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Gene id 367
Gene Summary     SNPs    Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed    

Gene Summary
Gene Symbol AR   Gene   UCSC   Ensembl
Aliases AIS, AR8, DHTR, HUMARA, HYSP1, KD, NR3C4, SBMA, SMAX1, TFM
Gene name androgen receptor
Alternate names androgen receptor, dihydrotestosterone receptor, nuclear receptor subfamily 3 group C member 4,
Gene location Xq12 (67544622: 67730618)     Exons: 11     NC_000023.11
Gene summary(Entrez) The androgen receptor gene is more than 90 kb long and codes for a protein that has 3 major functional domains: the N-terminal domain, DNA-binding domain, and androgen-binding domain. The protein functions as a steroid-hormone activated transcription fact
OMIM 313700

SNPs
rs201934623

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.67546320C>T
NC_000023.10   g.66766162C>T
NG_009014.2   g.7289C>T
NM_000044.6   c.1174C>T
NM_000044.5   c.1174C>T
NM_000044.4   c.1174C>T
NM_000044.3   c.1174C>T
NM_001011645.3   c.-610C>T
NM_001348061.1   c.1174C>T
NM_001348064.1   c.1174C>T
NM_00134806  

Protein Summary
Protein general information P10275  

Name: Androgen receptor (Dihydrotestosterone receptor) (Nuclear receptor subfamily 3 group C member 4)

Length: 920  Mass: 99,188

Sequence MEVQLGLGRVYPRPPSKTYRGAFQNLFQSVREVIQNPGPRHPEAASAAPPGASLLLLQQQQQQQQQQQQQQQQQQ
QQQQQETSPRQQQQQQGEDGSPQAHRRGPTGYLVLDEEQQPSQPQSALECHPERGCVPEPGAAVAASKGLPQQLP
APPDEDDSAAPSTLSLLGPTFPGLSSCSADLKDILSEASTMQLLQQQQQEAVSEGSSSGRAREASGAPTSSKDNY
LGGTSTISDNAKELCKAVSVSMGLGVEALEHLSPGEQLRGDCMYAPLLGVPPAVRPTPCAPLAECKGSLLDDSAG
KSTEDTAEYSPFKGGYTKGLEGESLGCSGSAAAGSSGTLELPSTLSLYKSGALDEAAAYQSRDYYNFPLALAGPP
PPPPPPHPHARIKLENPLDYGSAWAAAAAQCRYGDLASLHGAGAAGPGSGSPSAAASSSWHTLFTAEEGQLYGPC
GGGGGGGGGGGGGGGGGGGGGGGEAGAVAPYGYTRPPQGLAGQESDFTAPDVWYPGGMVSRVPYPSPTCVKSEMG
PWMDSYSGPYGDMRLETARDHVLPIDYYFPPQKTCLICGDEASGCHYGALTCGSCKVFFKRAAEGKQKYLCASRN
DCTIDKFRRKNCPSCRLRKCYEAGMTLGARKLKKLGNLKLQEEGEASSTTSPTEETTQKLTVSHIEGYECQPIFL
NVLEAIEPGVVCAGHDNNQPDSFAALLSSLNELGERQLVHVVKWAKALPGFRNLHVDDQMAVIQYSWMGLMVFAM
GWRSFTNVNSRMLYFAPDLVFNEYRMHKSRMYSQCVRMRHLSQEFGWLQITPQEFLCMKALLLFSIIPVDGLKNQ
KFFDELRMNYIKELDRIIACKRKNPTSCSRRFYQLTKLLDSVQPIARELHQFTFDLLIKSHMVSVDFPEMMAEII
SVQVPKILSGKVKPIYFHTQ
Structural information
Protein Domains
 NR (669-900)
Interpro:  IPR001103  IPR035500  IPR000536  IPR001628  IPR013088  
Prosite:   PS51843 PS00031 PS51030

PDB:  		 1E3G 1GS4 1T5Z 1T63 1T65 1XJ7 1XOW 1XQ3 1Z95 2AM9 2AMA 2AMB 2AO6 2AX6 2AX7 2AX8 2AX9 2AXA 2HVC 2OZ7 2PIO 2PIP 2PIQ 2PIR 2PIT 2PIU 2PIV 2PIW 2PIX 2PKL 2PNU 2Q7I 2Q7J 2Q7K 2Q7L 2YHD 2YLO 2YLP 2YLQ 2Z4J 3B5R 3B65 3B66 3B67 3B68 3BTR 3L3X 3L3Z 3RLJ 3RLL 3V49
PDBsum:   1E3G 1GS4 1T5Z 1T63 1T65 1XJ7 1XOW 1XQ3 1Z95 2AM9 2AMA 2AMB 2AO6 2AX6 2AX7 2AX8 2AX9 2AXA 2HVC 2OZ7 2PIO 2PIP 2PIQ 2PIR 2PIT 2PIU 2PIV 2PIW 2PIX 2PKL 2PNU 2Q7I 2Q7J 2Q7K 2Q7L 2YHD 2YLO 2YLP 2YLQ 2Z4J 3B5R 3B65 3B66 3B67 3B68 3BTR 3L3X 3L3Z 3RLJ 3RLL 3V49

DIP:  
125
MINT:  
STRING:   ENSP00000363822
Other Databases GeneCards:  AR  Malacards:  AR

Gene ontology

Expand All | Collapse All
GO accessionTerm nameEvidence codeGo category
GO:0000790 nuclear chromatin
 IDA cellular component
GO:0000790 nuclear chromatin
 IDA cellular component
GO:0000978 RNA polymerase II core pr
omoter proximal region se
quence-specific DNA bindi
ng
 IDA molecular function
GO:0001077 transcriptional activator
activity, RNA polymerase
II core promoter proxima
l region sequence-specifi
c binding
 IDA molecular function
GO:0001085 RNA polymerase II transcr
iption factor binding
 IPI molecular function
GO:0003677 DNA binding
 NAS molecular function
GO:0003682 chromatin binding
 IDA molecular function
GO:0003700 transcription factor acti
vity, sequence-specific D
NA binding
 IDA molecular function
GO:0003700 transcription factor acti
vity, sequence-specific D
NA binding
 IDA molecular function
GO:0004879 RNA polymerase II transcr
iption factor activity, l
igand-activated sequence-
specific DNA binding
 IDA molecular function
GO:0004882 androgen receptor activit
y
 NAS molecular function
GO:0004882 androgen receptor activit
y
 IDA molecular function
GO:0004882 androgen receptor activit
y
 TAS molecular function
GO:0004882 androgen receptor activit
y
 IMP molecular function
GO:0004882 androgen receptor activit
y
 IDA molecular function
GO:0004882 androgen receptor activit
y
 IDA molecular function
GO:0004882 androgen receptor activit
y
 IDA molecular function
GO:0005102 receptor binding
 IPI molecular function
GO:0005497 androgen binding
 NAS molecular function
GO:0005497 androgen binding
 IDA molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005634 nucleus
 IDA cellular component
GO:0005634 nucleus
 IDA cellular component
GO:0005634 nucleus
 IDA cellular component
GO:0005654 nucleoplasm
 TAS cellular component
GO:0005654 nucleoplasm
 TAS cellular component
GO:0005654 nucleoplasm
 TAS cellular component
GO:0005654 nucleoplasm
 TAS cellular component
GO:0005654 nucleoplasm
 TAS cellular component
GO:0005654 nucleoplasm
 TAS cellular component
GO:0005654 nucleoplasm
 TAS cellular component
GO:0005654 nucleoplasm
 TAS cellular component
GO:0005654 nucleoplasm
 TAS cellular component
GO:0005654 nucleoplasm
 TAS cellular component
GO:0005737 cytoplasm
 IDA cellular component
GO:0005737 cytoplasm
 IDA cellular component
GO:0005737 cytoplasm
 IDA cellular component
GO:0005829 cytosol
 TAS cellular component
GO:0005829 cytosol
 TAS cellular component
GO:0006351 transcription, DNA-templa
ted
 IDA biological process
GO:0006351 transcription, DNA-templa
ted
 IDA biological process
GO:0006351 transcription, DNA-templa
ted
 IMP biological process
GO:0006367 transcription initiation
from RNA polymerase II pr
omoter
 TAS biological process
GO:0006810 transport
 TAS biological process
GO:0007165 signal transduction
 TAS biological process
GO:0007267 cell-cell signaling
 TAS biological process
GO:0007548 sex differentiation
 NAS biological process
GO:0008013 beta-catenin binding
 IDA molecular function
GO:0008013 beta-catenin binding
 IPI molecular function
GO:0008013 beta-catenin binding
 TAS molecular function
GO:0008134 transcription factor bind
ing
 IPI molecular function
GO:0008270 zinc ion binding
 IEA molecular function
GO:0008283 cell proliferation
 NAS biological process
GO:0008284 positive regulation of ce
ll proliferation
 IDA biological process
GO:0008285 negative regulation of ce
ll proliferation
 IMP biological process
GO:0010628 positive regulation of ge
ne expression
 IMP biological process
GO:0016049 cell growth
 NAS biological process
GO:0019899 enzyme binding
 IPI molecular function
GO:0019899 enzyme binding
 IPI molecular function
GO:0030521 androgen receptor signali
ng pathway
 IDA biological process
GO:0030521 androgen receptor signali
ng pathway
 IDA biological process
GO:0030522 intracellular receptor si
gnaling pathway
 IDA biological process
GO:0030850 prostate gland developmen
t
 NAS biological process
GO:0042327 positive regulation of ph
osphorylation
 IMP biological process
GO:0043234 protein complex
 IDA cellular component
GO:0044212 transcription regulatory
region DNA binding
 IDA molecular function
GO:0044212 transcription regulatory
region DNA binding
 IDA molecular function
GO:0044212 transcription regulatory
region DNA binding
 IDA molecular function
GO:0045597 positive regulation of ce
ll differentiation
 IMP biological process
GO:0045720 negative regulation of in
tegrin biosynthetic proce
ss
 IDA biological process
GO:0045726 positive regulation of in
tegrin biosynthetic proce
ss
 IDA biological process
GO:0045893 positive regulation of tr
anscription, DNA-template
d
 IDA biological process
GO:0045893 positive regulation of tr
anscription, DNA-template
d
 IDA biological process
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
 IDA biological process
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
 IDA biological process
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
 IDA biological process
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
 IMP biological process
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
 IDA biological process
GO:0045945 positive regulation of tr
anscription from RNA poly
merase III promoter
 IDA biological process
GO:0046983 protein dimerization acti
vity
 NAS molecular function
GO:0051092 positive regulation of NF
-kappaB transcription fac
tor activity
 IMP biological process
GO:0051117 ATPase binding
 IDA molecular function
GO:0051259 protein oligomerization
 IDA biological process
GO:0090003 regulation of establishme
nt of protein localizatio
n to plasma membrane
 IDA biological process
GO:2001237 negative regulation of ex
trinsic apoptotic signali
ng pathway
 IDA biological process
GO:0004882 androgen receptor activit
y
 IDA molecular function
GO:0030521 androgen receptor signali
ng pathway
 IDA biological process
GO:0000790 nuclear chromatin
 IDA cellular component
GO:0000790 nuclear chromatin
 IDA cellular component
GO:0000978 RNA polymerase II core pr
omoter proximal region se
quence-specific DNA bindi
ng
 IDA molecular function
GO:0001077 transcriptional activator
activity, RNA polymerase
II core promoter proxima
l region sequence-specifi
c binding
 IDA molecular function
GO:0001085 RNA polymerase II transcr
iption factor binding
 IPI molecular function
GO:0003677 DNA binding
 IEA molecular function
GO:0003677 DNA binding
 IEA molecular function
GO:0003677 DNA binding
 NAS molecular function
GO:0003677 DNA binding
 TAS molecular function
GO:0003682 chromatin binding
 IDA molecular function
GO:0003700 transcription factor acti
vity, sequence-specific D
NA binding
 IEA molecular function
GO:0003700 transcription factor acti
vity, sequence-specific D
NA binding
 IDA molecular function
GO:0003700 transcription factor acti
vity, sequence-specific D
NA binding
 IDA molecular function
GO:0004879 RNA polymerase II transcr
iption factor activity, l
igand-activated sequence-
specific DNA binding
 IDA molecular function
GO:0004882 androgen receptor activit
y
 IEA molecular function
GO:0004882 androgen receptor activit
y
 NAS molecular function
GO:0004882 androgen receptor activit
y
 IDA molecular function
GO:0004882 androgen receptor activit
y
 TAS molecular function
GO:0004882 androgen receptor activit
y
 IMP molecular function
GO:0004882 androgen receptor activit
y
 IDA molecular function
GO:0004882 androgen receptor activit
y
 IDA molecular function
GO:0004882 androgen receptor activit
y
 IDA molecular function
GO:0004882 androgen receptor activit
y
 TAS molecular function
GO:0005102 receptor binding
 IPI molecular function
GO:0005496 steroid binding
 IEA molecular function
GO:0005496 steroid binding
 IEA molecular function
GO:0005497 androgen binding
 NAS molecular function
GO:0005497 androgen binding
 IDA molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005634 nucleus
 IEA cellular component
GO:0005634 nucleus
 IEA cellular component
GO:0005634 nucleus
 IEA cellular component
GO:0005634 nucleus
 IDA cellular component
GO:0005634 nucleus
 IDA cellular component
GO:0005634 nucleus
 IDA cellular component
GO:0005654 nucleoplasm
 TAS cellular component
GO:0005654 nucleoplasm
 TAS cellular component
GO:0005654 nucleoplasm
 TAS cellular component
GO:0005654 nucleoplasm
 TAS cellular component
GO:0005654 nucleoplasm
 TAS cellular component
GO:0005654 nucleoplasm
 TAS cellular component
GO:0005654 nucleoplasm
 TAS cellular component
GO:0005654 nucleoplasm
 TAS cellular component
GO:0005654 nucleoplasm
 TAS cellular component
GO:0005654 nucleoplasm
 TAS cellular component
GO:0005737 cytoplasm
 IEA cellular component
GO:0005737 cytoplasm
 IEA cellular component
GO:0005737 cytoplasm
 IDA cellular component
GO:0005737 cytoplasm
 IDA cellular component
GO:0005737 cytoplasm
 IDA cellular component
GO:0005829 cytosol
 TAS cellular component
GO:0005829 cytosol
 TAS cellular component
GO:0006351 transcription, DNA-templa
ted
 IEA biological process
GO:0006351 transcription, DNA-templa
ted
 IDA biological process
GO:0006351 transcription, DNA-templa
ted
 IDA biological process
GO:0006351 transcription, DNA-templa
ted
 IMP biological process
GO:0006355 regulation of transcripti
on, DNA-templated
 IEA biological process
GO:0006355 regulation of transcripti
on, DNA-templated
 IEA biological process
GO:0006367 transcription initiation
from RNA polymerase II pr
omoter
 TAS biological process
GO:0006810 transport
 TAS biological process
GO:0007165 signal transduction
 TAS biological process
GO:0007267 cell-cell signaling
 TAS biological process
GO:0007548 sex differentiation
 NAS biological process
GO:0008013 beta-catenin binding
 IDA molecular function
GO:0008013 beta-catenin binding
 IPI molecular function
GO:0008013 beta-catenin binding
 TAS molecular function
GO:0008134 transcription factor bind
ing
 IPI molecular function
GO:0008270 zinc ion binding
 IEA molecular function
GO:0008283 cell proliferation
 NAS biological process
GO:0008284 positive regulation of ce
ll proliferation
 IDA biological process
GO:0008285 negative regulation of ce
ll proliferation
 IMP biological process
GO:0008289 lipid binding
 IEA molecular function
GO:0010628 positive regulation of ge
ne expression
 IMP biological process
GO:0016049 cell growth
 NAS biological process
GO:0019899 enzyme binding
 IPI molecular function
GO:0019899 enzyme binding
 IPI molecular function
GO:0030521 androgen receptor signali
ng pathway
 IEA biological process
GO:0030521 androgen receptor signali
ng pathway
 IDA biological process
GO:0030521 androgen receptor signali
ng pathway
 IDA biological process
GO:0030522 intracellular receptor si
gnaling pathway
 IDA biological process
GO:0030850 prostate gland developmen
t
 NAS biological process
GO:0042327 positive regulation of ph
osphorylation
 IMP biological process
GO:0043234 protein complex
 IDA cellular component
GO:0043401 steroid hormone mediated
signaling pathway
 IEA biological process
GO:0043565 sequence-specific DNA bin
ding
 IEA molecular function
GO:0044212 transcription regulatory
region DNA binding
 IDA molecular function
GO:0044212 transcription regulatory
region DNA binding
 IDA molecular function
GO:0044212 transcription regulatory
region DNA binding
 IDA molecular function
GO:0045597 positive regulation of ce
ll differentiation
 IMP biological process
GO:0045720 negative regulation of in
tegrin biosynthetic proce
ss
 IDA biological process
GO:0045726 positive regulation of in
tegrin biosynthetic proce
ss
 IDA biological process
GO:0045893 positive regulation of tr
anscription, DNA-template
d
 IDA biological process
GO:0045893 positive regulation of tr
anscription, DNA-template
d
 IDA biological process
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
 IDA biological process
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
 IDA biological process
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
 IDA biological process
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
 IMP biological process
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
 IDA biological process
GO:0045945 positive regulation of tr
anscription from RNA poly
merase III promoter
 IDA biological process
GO:0046872 metal ion binding
 IEA molecular function
GO:0046983 protein dimerization acti
vity
 NAS molecular function
GO:0051092 positive regulation of NF
-kappaB transcription fac
tor activity
 IMP biological process
GO:0051117 ATPase binding
 IDA molecular function
GO:0051259 protein oligomerization
 IDA biological process
GO:0090003 regulation of establishme
nt of protein localizatio
n to plasma membrane
 IDA biological process
GO:2001237 negative regulation of ex
trinsic apoptotic signali
ng pathway
 IDA biological process
GO:0004882 androgen receptor activit
y
 IDA molecular function
GO:0030521 androgen receptor signali
ng pathway
 IDA biological process
GO:0000790 nuclear chromatin
 IDA cellular component
GO:0000790 nuclear chromatin
 IDA cellular component
GO:0000978 RNA polymerase II core pr
omoter proximal region se
quence-specific DNA bindi
ng
 IDA molecular function
GO:0001077 transcriptional activator
activity, RNA polymerase
II core promoter proxima
l region sequence-specifi
c binding
 IDA molecular function
GO:0001085 RNA polymerase II transcr
iption factor binding
 IPI molecular function
GO:0003677 DNA binding
 NAS molecular function
GO:0003677 DNA binding
 TAS molecular function
GO:0003682 chromatin binding
 IDA molecular function
GO:0003700 transcription factor acti
vity, sequence-specific D
NA binding
 IDA molecular function
GO:0003700 transcription factor acti
vity, sequence-specific D
NA binding
 IDA molecular function
GO:0004879 RNA polymerase II transcr
iption factor activity, l
igand-activated sequence-
specific DNA binding
 IDA molecular function
GO:0004882 androgen receptor activit
y
 NAS molecular function
GO:0004882 androgen receptor activit
y
 IDA molecular function
GO:0004882 androgen receptor activit
y
 TAS molecular function
GO:0004882 androgen receptor activit
y
 IMP molecular function
GO:0004882 androgen receptor activit
y
 IDA molecular function
GO:0004882 androgen receptor activit
y
 IDA molecular function
GO:0004882 androgen receptor activit
y
 IDA molecular function
GO:0004882 androgen receptor activit
y
 TAS molecular function
GO:0005102 receptor binding
 IPI molecular function
GO:0005497 androgen binding
 NAS molecular function
GO:0005497 androgen binding
 IDA molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005634 nucleus
 IDA cellular component
GO:0005634 nucleus
 IDA cellular component
GO:0005634 nucleus
 IDA cellular component
GO:0005654 nucleoplasm
 TAS cellular component
GO:0005654 nucleoplasm
 TAS cellular component
GO:0005654 nucleoplasm
 TAS cellular component
GO:0005654 nucleoplasm
 TAS cellular component
GO:0005654 nucleoplasm
 TAS cellular component
GO:0005654 nucleoplasm
 TAS cellular component
GO:0005654 nucleoplasm
 TAS cellular component
GO:0005654 nucleoplasm
 TAS cellular component
GO:0005654 nucleoplasm
 TAS cellular component
GO:0005654 nucleoplasm
 TAS cellular component
GO:0005737 cytoplasm
 IDA cellular component
GO:0005737 cytoplasm
 IDA cellular component
GO:0005737 cytoplasm
 IDA cellular component
GO:0005829 cytosol
 TAS cellular component
GO:0005829 cytosol
 TAS cellular component
GO:0006351 transcription, DNA-templa
ted
 IDA biological process
GO:0006351 transcription, DNA-templa
ted
 IDA biological process
GO:0006351 transcription, DNA-templa
ted
 IMP biological process
GO:0006367 transcription initiation
from RNA polymerase II pr
omoter
 TAS biological process
GO:0006810 transport
 TAS biological process
GO:0007165 signal transduction
 TAS biological process
GO:0007267 cell-cell signaling
 TAS biological process
GO:0007548 sex differentiation
 NAS biological process
GO:0008013 beta-catenin binding
 IDA molecular function
GO:0008013 beta-catenin binding
 IPI molecular function
GO:0008013 beta-catenin binding
 TAS molecular function
GO:0008134 transcription factor bind
ing
 IPI molecular function
GO:0008283 cell proliferation
 NAS biological process
GO:0008284 positive regulation of ce
ll proliferation
 IDA biological process
GO:0008285 negative regulation of ce
ll proliferation
 IMP biological process
GO:0010628 positive regulation of ge
ne expression
 IMP biological process
GO:0016049 cell growth
 NAS biological process
GO:0019899 enzyme binding
 IPI molecular function
GO:0019899 enzyme binding
 IPI molecular function
GO:0030521 androgen receptor signali
ng pathway
 IDA biological process
GO:0030521 androgen receptor signali
ng pathway
 IDA biological process
GO:0030522 intracellular receptor si
gnaling pathway
 IDA biological process
GO:0030850 prostate gland developmen
t
 NAS biological process
GO:0042327 positive regulation of ph
osphorylation
 IMP biological process
GO:0043234 protein complex
 IDA cellular component
GO:0044212 transcription regulatory
region DNA binding
 IDA molecular function
GO:0044212 transcription regulatory
region DNA binding
 IDA molecular function
GO:0044212 transcription regulatory
region DNA binding
 IDA molecular function
GO:0045597 positive regulation of ce
ll differentiation
 IMP biological process
GO:0045720 negative regulation of in
tegrin biosynthetic proce
ss
 IDA biological process
GO:0045726 positive regulation of in
tegrin biosynthetic proce
ss
 IDA biological process
GO:0045893 positive regulation of tr
anscription, DNA-template
d
 IDA biological process
GO:0045893 positive regulation of tr
anscription, DNA-template
d
 IDA biological process
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
 IDA biological process
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
 IDA biological process
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
 IDA biological process
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
 IMP biological process
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
 IDA biological process
GO:0045945 positive regulation of tr
anscription from RNA poly
merase III promoter
 IDA biological process
GO:0046983 protein dimerization acti
vity
 NAS molecular function
GO:0051092 positive regulation of NF
-kappaB transcription fac
tor activity
 IMP biological process
GO:0051117 ATPase binding
 IDA molecular function
GO:0051259 protein oligomerization
 IDA biological process
GO:0090003 regulation of establishme
nt of protein localizatio
n to plasma membrane
 IDA biological process
GO:2001237 negative regulation of ex
trinsic apoptotic signali
ng pathway
 IDA biological process
GO:0004882 androgen receptor activit
y
 IDA molecular function
GO:0030521 androgen receptor signali
ng pathway
 IDA biological process

KEGG pathways

Expand All | Collapse All

Pathway idPathway name
hsa04114Oocyte meiosis
hsa05200Pathways in cancer
hsa05215Prostate cancer

Diseases

Expand All | Collapse All
Associated diseases References
Cancer (prostate) KEGG: H00024
Cancer (prostate) MIK: 7770997
Cancer GAD: 18415690
Cancer (Adenocarcinoma) GAD: 18491956
Cancer (benign prostatic hyperplasia) GAD: 14742287
Cancer (bladder) GAD: 19692168
Cancer (colon) GAD: 18992263
Cancer (colorectal) GAD: 16365013
Cancer (endometrial) GAD: 16187285
Cancer (epithelial ovarian) GAD: 19064572
Cancer (esophageal) GAD: 12925954
Cancer (head and neck) GAD: 17321486
Cancer (Hepatocellular) GAD: 12085360
Cancer (leiomyoma) GAD: 15704521
Cancer (lymphoma) GAD: 18636124
Cancer (ovarian) GAD: 11221880
Cancer (prostate) GAD: 11935317
Cancer (Renal cell) GAD: 15358199
Cancer (testicular) GAD: 12385020
Cancer (ureteral) GAD: 17922225
Cancer (breast) GAD: 12712467
Angina pectoris GAD: 16569551
Atherosclerosis GAD: 15890890
Brain ischemia GAD: 18323476
Cardiovascular disease GAD: 14974917
Coronary heart disease GAD: 14974917
Cardiomyopathy GAD: 14974917
Hypertension GAD: 20083725
Noonan syndrome KEGG: H00523
Hyperandrogenism GAD: 17984247
Retinopathy GAD: 12090088
Acne Vulgaris GAD: 18624843
Arthritis GAD: 17431729
Rheumatoid arthritis GAD: 19555469
Alopecia areata GAD: 18385763
Insulin resistance GAD: 19159685
Metabolic syndrome GAD: 19207614
Obesity GAD: 20734064
Diabetes GAD: 14641003
Insulin resistance GAD: 18535544
Dyslipidemias GAD: 19159685
Osteoarthritis GAD: 16098017
Osteoporosis GAD: 12593895
Bone diseases GAD: 19453261
Myotonic dystrophy GAD: 12042281
Migraine disorder GAD: 15654614
Neuromuscular diseases INFBASE: 10956560
Spinal and bulbar muscular atrophy KEGG: H00062
Spinal muscular atrophy KEGG: H00455
Kennedy's disease GAD: 14999487
Alzheimer's disease GAD: 17116317
Epilepsy GAD: 12042281
Attention deficit disorder conduct disorder oppositional defiant disorder GAD: 11140838
Autism GAD: 19058789
Psychological disorders GAD: 17365134
Schizophrenia GAD: 7649358
Schizophrenia GAD: 11121205
Depression GAD: 17365134
Abortion GAD: 20716560
Azoospermia GAD: 18645675
Oligozoospermia GAD: 15934454
Oligozoospermia GAD: 18477206
Spermatogenesis defects GAD: 9360540
Isolated penile hypospadias GAD: 8683794
Pregnancy loss GAD: 18692840
Ovarian hyperandrogenism GAD: 12843184
Premature ovarian failure (POF) GAD: 19684044
Premature ovarian failure (POF) GAD: 19684044
Spermatogenesis defects GAD: 9842998
Micropenis GAD: 15201804
Female infertility INFBASE: 26081505
Female infertility INFBASE: 15813602
Defective spermatogenesis INFBASE: 759869
Primary amenorrhea INFBASE: 21284344
Antral follicle morphology INFBASE: 20843821
Primary amenorrhea INFBASE: 17431892
Poor ovarian response (POR) INFBASE: 25131556
Late-onset hypogonadism (LOH) INFBASE: 22419720
Prader-Willi syndrome INFBASE: 25925349
Polycystic ovary syndrome (PCOS) INFBASE: 23599814
Hypergonadotropic hypogonadism INFBASE: 19752597
Morris syndrome INFBASE: 21284344
Mild androgen insensitivity syndrome (MAIS) INFBASE: 21962961
Endometrial receptivity INFBASE: 11804942
Partial androgen insensitivity syndrome (PAIS) INFBASE: 17488792
Uterine leiomyomas INFBASE: 20063560
Turners syndrome INFBASE: 10680293
Reifenstein syndrome INFBASE: 7929841
46,XY disorder of sex development MIK: 20150575
Androgen insensitivity syndrome (AIS) MIK: 22469007
Oligoasthenoteratozoospermia MIK: 17334597
Oligoasthenoteratozoospermia MIK: 19752597
Ambiguous genitalia MIK: 10999816
Poor semen quality MIK: 12534937
Male factor infertility MIK: 20150575
Androgen insensitivity syndrome (AIS) MIK: 9160185
Machado-Joseph disease MIK: 12042281
Hypospadias MIK: 7970939
Arrested spermatogenesis MIK: 17027356
Hypospadias MIK: 15472213
Hypospadias MIK: 15835798
Male sexual development MIK: 7770997
Male factor infertility MIK: 26216079
Male factor infertility MIK: 16809273
Infertility MIK: 15888966
Oligoasthenozoospermia MIK: 24522616
Teratozoospermia MIK: 15117901
Male pseudohermaphroditism MIK: 20056211
Maturation arrest MIK: 12478141
Primary severe spermatogenetic failure MIK: 20378930
Cryptorchidism MIK: 22906643
Oligozoospermia MIK: 15934454
Testicular dysgenesis syndrome (TDS) MIK: 23589523
Penile hypospadias MIK: 16957138
Perineal hypospadias MIK: 8097257
Non obstructive azoospermia MIK: 24919724
Cryptorchidism MIK: 14646391
Mixed gonadal dysgenesis MIK: 3026952
Polycystic ovary syndrome (PCOS) MIK: 10999852
Undermasculinized genitalia MIK: 10749991
Undervirilized male syndrome MIK: 7962294
Testicular failure MIK: 24124902
Testicular failure MIK: 24124902
Testicular feminization MIK: 1430233
Undescended testis MIK: 16566985
Oligozoospermia MIK: 12220434
Sertoli cell only syndrome (SCOS) MIK: 16929754
Nonsyndromic cryptorchidism MIK: 22906643
Partial androgen insensitivity syndrome (PAIS) MIK: 10502786
Spermatogenesis defects MIK: 15497705
Hypospermatogenesis MIK: 12478141
Spermatogenesis defects MIK: 10946887
Spermatogenesis defects MIK: 11675466
Spermatogenesis defects MIK: 15117901
Testicular dysgenesis syndrome (TDS) MIK: 23589523
Testis development MIK: 19276236
Spermatogenesis defects MIK: 17027356
Spermatogenesis defects MIK: 24124902
X-linked adrenoleukodystrophy MIK: 24722136
Spermatogenesis defects MIK: 15497705
Oligozoospermia MIK: 10050656
Male factor infertility MIK: 10999852
Male factor infertility MIK: 10749991
Varicocele MIK: 25850410
Varicocele MIK: 23201383
Sertoli cell only syndrome (SCOS) MIK: 19361789
Reifenstein syndrome MIK: 1430233
Azoospermia or oligozoospermia MIK: 26221130
Hyperandrogenism INFBASE: 19172534
Gynecomastia INFBASE: 1598912
Androgen insensitivity syndrome (AIS) INFBASE: 24098470
Infertility MIK: 24691874
Bilateral cryptorchidism MIK: 8097257
Cryptorchidism MIK: 24691874
21-hydroxylase deficiency (CAH) INFBASE: 15644580
Complete androgen insensitivity syndrome (CAIS) MIK: 25633053
Inguinal cryptorchism INFBASE: 22608796
Complete testicular feminization MIK: 8450040
Congenital adrenal hyperplasia GAD: 20233785
Cryptorchidism MIK: 11044458
Klinefelter syndrome MIK: 19017913
Dysgenetic gonads INFBASE: 10428170
Endometriosis GAD: 16244490
Erectile dysfunction MIK: 26216079
Female infertility INFBASE: 16450583
Genital abnormalities MIK: 11443190
Gonadal dysgenesis GAD: 20150575
Hypogonadotropic hypogonadism GAD: 12727953
Cryptorchidism MIK: 23637914
Azoospermia MIK: 10604712
Dentatorubral-pallidoluysian atrophy MIK: 12042281
Azoospermia MIK: 11545293
Incomplete testicular feminization MIK: 1316540
Klinefelter syndrome MIK: 17579198
Cryptorchidism MIK: 21962961
Asthenozoospermia MIK: 21486420
Gynecomastia MIK: 25433660
Gynecomastia MIK: 25532578
Hypertrophy GAD: 14974917
Anoxia GAD: 20374306
Urolithiasis GAD: 11564035
46,XY disorder of sex development MIK: 20150575
Aberrant CpGs in Low Motility Sperm MIK: 21674046
Ambiguous genitalia MIK: 10999816
Well-developed Müllerian structures, but normal appearing testes MIK: 8834252
Androgen insensitivity syndrome (AIS) MIK: 28670533
Gynecomastia MIK: 25433660
Defective spermatogenesis  MIK: 759869
Undervirilized male syndrome MIK: 7962294
Male infertility MIK: 22469007
Azoospermia MIK: 22469007
Arrested spermatogenesis MIK: 17027356
Associated with spermatogenesis and epigenetic regulation MIK: 21674046
Oligozoospermia MIK: 11330644
Oligoasthenoteratozoospermia MIK: 17334597
Asthenospermia MIK: 30156032
Bifid scrotum and Hypospadias MIK: 28215832
Complete androgen insensitivity syndrome (CAIS) MIK: 1480178
Partial androgen insensitivity syndrome (PAIS) MIK: 9039340
Ambiguous genitalia MIK: 7970939
Hypospadias MIK: 7970939
Reifenstein syndrome MIK: 7970939
Causes spermatogenic arrest in meiosis MIK: 14745012
Cryptorchidism MIK: 11044458
Hypospadias MIK: 15472213
Klienfelter syndrome MIK: 19017913
Penile hypospadias MIK: 16957138
Epithelial hypotrophy and obstructive azoospermia MIK: 21084446
Erectile dysfunction MIK: 26216079
Familial male pseudohermaphroditism MIK: 7379320
Genital abnormalities MIK: 11443190
Gynecomastia MIK: 25532578
Hypoandrogenism MIK: 16117826
Hypogonadism MIK: 23193666
Hypospadias MIK: 15835798
Hypospadias without micropenis MIK: 23637914
Male infertility MIK: 11591412
Oligoasthenozoospermia MIK: 24522616
Machado-Joseph disease MIK: 12042281
Myotonic dystrophy type 1 MIK: 12042281
Dentatorubral-pallidoluysian atrophy MIK: 12042281
Spermatogenic defects MIK: 9360540
Incomplete testicular feminization MIK: 1316540
Klienfelters syndrome MIK: 17579198
Late-onset hypogonadism (LOH) MIK: 22419720
Leydig cells is essential to maintain normal spermatogenesis, testosterone production, and required for normal male fertility MIK: 17955388
Maintain normal spermatogenesis and testosterone production, and ensure normal male fertility MIK: 15107499
Male infertility MIK: 9788719
Neuromuscular diseases MIK: 10956560
Semen quality MIK: 23201383
Varicocoele MIK: 23201383
Sertoli-cell-only syndrome MIK: 19361789
Male pseudohermaphroditism MIK: 20056211
Male sexual development MIK: 7770997
Prostatic cancer MIK: 7770997
Male subfertility MIK: 11792931
Spermatogenetic defects MIK: 11675466
Mild androgen insensitivity syndrome (MAIS) MIK: 28659371
Mixed gonadal dysgenesis MIK: 3026952
Non-obstructive azoospermia MIK: 24919724
Nonsyndromic cryptorchidism MIK: 22906643
Oligoasthenoteratozoospermia MIK: 19752597
Hypergonadotropic hypogonadism MIK: 19752597
Oligozoospermia MIK: 3093523
Azoospermia MIK: 15229204
Asthenospermia MIK: 21486420
Sperm concentration and motility MIK: 23001776
Cryptorchidism MIK: 14646391
Polycystic ovary syndrome (PCOS) MIK: 10999852
Perineal hypospadias MIK: 8097257
Bilateral cryptorchidism MIK: 8097257
Micropenis MIK: 8097257
Poor semen quality MIK: 12534937
Post testicular sperm maturation MIK: 30770815
Male infertility MIK: 30770815
Epididymal dysfunction MIK: 30770815
Prader-Willi syndrome individuals MIK: 25925349
Primary spermatogenetic failure MIK: 21393548
Reifenstein syndrome MIK: 1598912
Schizophrenia MIK: 7649358
Role in coordinating epididymal function MIK: 24006278
Role in spermatogenesis MIK: 26132308
Sertoli cell only syndrome (SCOS) MIK: 16929754
Semen quality MIK: 18477206
Maturation arrest MIK: 12478141
Hypospermatogenesis MIK: 12478141
Spermatogenetic defects MIK: 24691874
Cryptorchidism MIK: 24691874
Male infertility MIK: 29658246
Teratozoospermia MIK: 15117901
Testicular failure MIK: 24124902
Testicular dysgenesis syndrome MIK: 23589523
Testis development MIK: 19276236
Undermasculinized genitalia MIK: 10749991
Undescended testis MIK: 16566985
Varicocele-related infertility MIK: 25850410
X-linked adrenoleukodystrophy MIK: 24722136
X-linked Reifenstein syndrome MIK: 8128958

PubMed references

Expand All | Collapse All
PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
22906643 Nonsyndrom
ic cryptor
chidism
229 (Boys with
congenital (79)
or acquired (6
6) nonsyndromic
cryptorchidism
and hernia/hyd
rocele (control
s, 84))
 Male infertility MYH1
MYH2
MYH7
RXFP2
AR
ESR1
ESR2
 Show abstract
26221130 Male infer
tility, Az
oospermia,
Oligozoos
permia
 Iran
 144 (72 inferti
le (36 azoosper
mic, 36 oligozo
ospermic), 72 f
ertile men)
 Male infertility
Show abstract
26216079 Erectile d
ysfunction
 AR CAG repeat length Taiwane
se
 478
 Male infertility
Show abstract
25925349 Prader-Wil
li syndrom
e individu
als
 AR gene CAG repeats
88 (27 non-synd
romic obese, 33
lean controls,
28 individuals
with Prader-Wi
lli syndrome (P
WS))
 Male infertility
Show abstract
25677139 Azoospermi
a
 g. 1283_1284insAGTTTGCTG, insertion of three proteins (serine-leucine-leucine) between codon 56 and codon 57, p.Gln58Leu substitution
1
 Male infertility
Show abstract
25633053 CAIS
 c.1752C>G, p.Phe584Leu
4 complete andr
ogen insensitiv
ity syndrome (C
AIS) members of
one family
 Male infertility, Female infertility
Show abstract
25514102 Klinefelte
r syndrome
 47, XXY (KS)
146 (73 KS male
s, 73 age-match
ed controls)
 Male infertility
Show abstract
25401426 Gynecomast
ia, AIS
 p.Pro695Ser
1
 Male infertility
Show abstract
24919724 Non-obstru
ctive azoo
spermia
74 (52 men with
NOA and 22 men
with obstructi
ve azoospermia
(OA))
 Male infertility
Show abstract
24722136 X-linked a
drenoleuko
dystrophy
 c.521A>G in exon 1 (p.Tyr174Cys) Caucasi
an
 29
 Male infertility
Show abstract
24691874 Speramtoge
netic defe
cts, Idiop
athic infe
rtility, c
ryptorchid
ism
 AR-CAG polymorphism
200 (90 idiopat
hic olizoosperm
ic males (IOM)
and 20 idiopath
ic azoospermic
males, 19 Crypt
orchidism and 1
0 Y chromosome
long arm microd
eletions, 61age
-matched fertil
e healthy men)
 Male infertility FSH
LH
INHB
 Show abstract
24124902 Testicular
failure

Male infertility
Show abstract
24098470 Sertoli-ce
lls-onlysy
ndrome (SC
OS) and an
drogen ins
ensitivity
 syndrome 
(AIS)
77 (23 men with
obstructive az
oospermia, 33 m
en with SCOS az
oospermia and 2
1 volunteers wi
th normal semin
ograms)
 Male infertility
Show abstract
23884765 Azoospermi
a, severe
oligozoosp
ermia
 CAG and GGN repeat polymorphisms Chinese
 285 (96 fertile
men, 189 non-o
bstructive infe
rtile men (125
patients with a
zoospermia and
64 with severe
oligozoospermia
, ) )
 Male infertility
Show abstract
23725463 Spermatoge
netic defe
cts, Male
infertilit
y
100 (40 inferti
le men with spe
rmatogenesis fa
ilure without Y
-chromosome mic
rodeletions, 60
normozoospermi
c ones)
 Male infertility
Show abstract
23589523 Testicular
 dysgenesi
s syndrome
 c.2214T>G;p.Ile738Met
3 males affecte
d by a mild dis
order of sex de
termination com
patible with te
sticular dysgen
esissyndrome (T
DS), including
subfertility, c
ryptorchidism,
hypospadias, an
d testicular ca
ncer
 Male infertility
Show abstract
23193666 Hypogonadi
sm
 CAG copy number
1000 (127 norma
l old and middl
e-aged males an
d 19 cases of l
ate-onset hypog
onadism (LOH))
 Male infertility
Show abstract
23013557 Semen qual
ity, Male
infertilit
y
 AR allele-Ala307Ala/Ser680Ser, AR allele-Thr307Thr/Asn680Asn, AR allele-Ala307Ala/Ser680Ser, FSHRThr307/Asn680, FSHRAla307/Ser680
450 (200 oligoz
oospermic, 250
normozoospermic
men)
 Male infertility FSHR
AR
 Show abstract
21714804 Infertile
men
 AR-CAG repeats Egyptia
n
 185 (30 fertile
controls, 35 o
ligoasthenotera
tozoospermic, 1
20 nonobstructi
ve azoospermic)
 Male infertility
Show abstract
21962961 MAIS, azoo
spermia, c
ryptorchid
ism
 Present study: A240S, Reported in literature: G214R, N233K, A240S, L270F, P340L, E353Q, P390S, A474V, P504T, G506N, V511V
2 (1cryptorchid
ism and azoospe
rmia, )
 Male infertility
Show abstract
21393548 Primary sp
ermatogene
tic failur
e
 CAG/GGN polymorphisms Chilean
 238 (117 secret
ory azo/oligozo
ospermic men (9
3 idiopathic an
d 24 excryptorc
hidic), and in
121 controls wi
th normal sperm
atogenesis (42
obstructive and
79 normozoospe
rmic men))
 Male infertility
Show abstract
22469007 AIS
 F754S substitution (renumbered F755S in the 2012 McGill University AR gene database)
1 AIS
 Male infertility
Show abstract
20971460 CAIS
 D767V
3male, 1 female
 Male infertility
Show abstract
21486420 Oligozoosp
ermic, ast
henospermi
c, Male in
fertility
 CAG repeat polymorphism Egyptia
n
 65 (45 infertil
e men, 20 aged-
matched fertile
males as contr
ol)
 Male infertility
Show abstract
21154321 AIS
 AR gene (1910delA) lead to Asn637Ile and Lys638stop Chinese
 3
 Male infertility
Show abstract
21127309 Azoospermi
a
 1510C?A transversion in exon 1 of the AR gene leading to p.Pro504Thr substitution Iranian
 1 azoospermia
 Male infertility
Show abstract
22188741 Cryptorchi
dism
 CAG repeats Hispani
c white
boys
 127 boys with p
ersistent crypt
orchidism
 Male infertility
Show abstract
20671138 AIS
 2650G>A (G708E)
1 AIS
 Male infertility
Show abstract
20579136 Male subfe
rtility
 AR CAG repeats
3915 (1831 fert
ile, 2084 infer
tile)
 Male infertility
Show abstract
20458976 Azoospermi
a, Oligozo
ospermia
 CAG repeats Ukraine
 352 (228 infert
ile males with
azoospermia (n
= 68) and oligo
zoospermia (n =
160) as well a
s in control gr
oup (124 proven
fathers))
 Male infertility
Show abstract
20378930 Primary se
vere sperm
atogenetic
failure
 CAG and GGN repeat polymorphisms Chilean
 238 (117 secret
ory azoospermic
/oligozoospermi
c men (93 idiop
athic and 24 ex
cryptorchidic),
without Y-chro
mosome microdel
etions, and 121
controls with
normal spermato
genesis (42 obs
tructive and 79
normozoospermi
c men))
 Male infertility
Show abstract
20198568 Male infer
tility
 Brazili
an
 95 (70 patients
with idiopathi
c infertility,
25 healthy cont
rols)
 Male infertility
Show abstract
20150575 46,XY diso
rder of se
x developm
ent
 E2K; Q76X; InsA,R79fsX81; InsGCCG,A15fsX82; Q84X; Del 10bp,S82fsX169; DelC,P219fsX224; InsT, K239X; DelCT,Q346fsX499; G453S, Y571C; Del 17bp,H543fsX544; G568E; A573P; C579W; F583L; IVS2–2 AC K590E; IVS2–3 CG; Y593X; C619R; D695Y; D695N; S703C Spanish
 133 46,XY DSD
 Male infertility
Show abstract
20065623 Male infer
tility
 CAG and GGN repeats length polymorphism Nigeria
n, Germ
an
 146 (60 inferti
le men (20 non-
obstructive azo
ospermic, 40 ol
igozoospermic s
ubjects), 38 no
rmozoospermic w
ith proven fert
ility, 48 volun
teers with norm
al spermatogene
sis)
 Male infertility
Show abstract
20056211 Male pseud
ohermaphro
ditism
 p.P913R, p.D732 N, p.N848 K, fs879X, and p.R608 K Chinese
 4
 Male infertility
Show abstract
19953479 CAIS
  681 GAG to GAT of exon 4 (E681D)
4 (3 male pseud
ohermaphroditis
m)
 Male infertility
Show abstract
19947564 Male infer
tility
 (CAG)n polymorphism
5467 (3,153 idi
opathic inferti
le men, 2,314 c
ontrols)
 Male infertility
Show abstract
19937586 Teratozoos
permia
 exon 1 deletion the AR gene Brazili
an
 111 infertile,
oligozoospermic
(N = 31), asth
enozoospermic (
N = 23), terato
zoospermic (N =
33), and azoos
permic (N = 24)
men
 Male infertility
Show abstract
19752597 Oligoasthe
noteratozo
ospermia,
hypergonad
otropic hy
pogonadism
1 Oligoasthenot
eratozoospermia
, hypergonadotr
opic hypogonadi
sm
 Male infertility
Show abstract
19551717 Spermatoge
netic defe
cts, Male
infertilit
y, AIS

Male infertility
Show abstract
19168451 Azoospermi
a, Oligozo
ospermia
 CAG repeat polymorphism Egyptia
n
 181 (129 infert
ile Egyptian me
n, 52 ethnicall
y matched ferti
le controls)
 Male infertility
Show abstract
19017913 Cryptorchi
dism, Klie
nfelter sy
ndrome
 AR (H382Y, T558S), INSL3 (R102C, T86M), RXFP2(T222P) Italian
 900 (600 male i
nfants (396 had
unilateral cry
ptorchidism, 20
4 bilateral cry
ptorchidism ) w
ith cryptorchid
ism, 300 noncry
ptorchid male c
hildren)
 Male infertility INSL3R
RXFP2
AR
 Show abstract
18676362 Spermatoge
netic defe
cts, Male
infertilit
y
 CAG repeat length Mexican
 122 (82 inferti
le, 40 controls
)
 Male infertility
Show abstract
18577874 CAIS
 P723S, P904S, F916X and H917R

Male infertility, Female infertility
Show abstract
17919607 Azoospermi
a
51 (27 men with
obstructive az
oospermia, 24 m
en with nonobst
ructive azoospe
rmia)
 Male infertility
Show abstract
17889867 Spermatoge
nic failur
e
 CAG repeat length variation Chinese
 226 (153 infert
ile men, 73 pro
ven fertile con
trols)
 Male infertility
Show abstract
17684052 Male infer
tility
5749 (3027 case
s, 2722 control
s )
 Male infertility
Show abstract
17651405 Male infer
tility
 AR CAG/GGN microsatellites Estonia
n
 324 (112 infert
ile, 212 contro
l)
 Male infertility
Show abstract
17579198 Klienfelte
rs syndrom
e
 XXY Klinefelter patients, SRY-positive 46,XX males
336 (101 47,XXY
Klinefelter pa
tients, 78 heal
thy men, and 15
7 healthy women
)
 Male infertility
Show abstract
17566258 Azoospermi
c, Oligozo
ospermic
 CAG repeats length polymorphisms
272 (19 azoospe
rmic, 117 oligo
zoospermic men,
136 normal fer
tile men)
 Male infertility
Show abstract
17334597 Azoospermi
a, oligoas
thenoterat
ozoospermi
a
 CAG repeat polymorphism Slovene
 327(190 Slovene
infertile men
compared to 137
men with prove
n fertility)
 Male infertility
Show abstract
17334586 Male infer
tility

Male infertility
Show abstract
17207798 Azoospermi
a
86 (12 obstruct
ive men, 74 non
obstructive azo
ospermic men)
 Male infertility
Show abstract
17054461 Azoospermi
a
1827 (1517 azoo
spermia, 310 no
rmozoospermia)
 Male infertility
Show abstract
17027356 Arrested s
permatogen
esis
 CAG repeat polymorphism
28 aged men
 Male infertility
Show abstract
16957138 Cryptorchi
dism, peni
le hypospa
dias
 CAG/GGN trinucleotide repeats Iranian
 168 (76 cryptor
chid and 92 hyp
ospadiac males)
 Male infertility
Show abstract
16865224 Male infer
tility
 CAG polymorphism Caucasi
an
 109 (13 fertile
men, 64 infert
ile men, 21boys
conceived afte
r ICSI, 11 boys
conceived natu
rally )
 Male infertility
Show abstract
16813680 Cryptorchi
dism
 CAG repeat polymorphism
73 (42 cryptorc
hid boys, 31 no
n-cryptorchid c
ontrol)
 Male infertility
Show abstract
16809273 Infertilit
y
 GGN repeat length polymorphism Indian
 595 (277 azoosp
emric, 97 oligo
zoospermic, and
21 oligoterato
zoospermic case
s, along with 2
00 normozoosper
mic controls)
 Male infertility
Show abstract
16566985 Undescende
d testis
10 (5 boys with
descended test
is but with ing
uinal hernia, 5
boys with unde
scended testis)
 Male infertility
Show abstract
16117826 Hypoandrog
enism
 CAG repeats length polymorphisms Europea
n
 149 (91 healthy
normoandrogeni
zed subjects, 2
9 hypoandrogeni
zed patients (h
ypoplasia of pr
ostate and semi
nal vesicles, r
educed beard or
body hair, etc
.) and 29 infer
tile patients)
 Male infertility
Show abstract
15956082 Klinefelte
r syndrome
 CAGn repeat length polymorphism
35 KS boys
 Male infertility
Show abstract
15954500 Male infer
tility
 CAGn repeat length polymorphism Irish
 143 (66 inferti
le patients, 77
fertile contro
ls)
 Male infertility
Show abstract
15941919 CAIS
2 CAIS
 Male infertility
Show abstract
15934454 Idiopathic
azoosperm
ic and oli
gospermic 
 (CAG)n polymorphism Chinese
 83 (52 oligospe
rmia, 31 with a
zoospermia )
 Male infertility
Show abstract
15888966 Idiopathic
infertili
ty
 CAG repeat length Turkish
 79 (47 idiopath
ic infertile me
n, 32 fertile c
ontrols)
 Male infertility
Show abstract
15835798 Hypospadia
s
 AR: exon 4[1 locus:664(ATT-->ACT] and exon 7[3 locuses: 840(CGT-->CAT),855(CGC-->CAC),859(CTC-->CTA)] Chinese
 185 (92 patient
s with hypospad
ias (penile 33,
scrotal 49, pe
rineal 10; cryp
torchidism 15,
micropenis 34,
indirect hernia
3, augmentatio
n of breast 2,
other deformiti
es 8; posses fa
mily history 23
)), 93 controls
 Male infertility
Show abstract
15757859 Cryptorchi
dism
 CAG and GGC repeat lengths
220 (105 ex-cry
ptorchid men, 1
15 fertile non-
cryptorchid men
)
 Male infertility
Show abstract
15704647 Klinefelte
r'ssyndrom
e
 (47, XXY)
1 KS
 Male infertility
Show abstract
15497705 Spermatoge
netic arre
st
72 (57 infertil
e men with sper
matogenic arres
t, compared wit
h those taken f
rom 15 normal h
ealthy men)
 Male infertiltiy
Show abstract
15472213 Cryptorchi
dism, hypo
spadias
 GGN repeat length polymorphism
284 (51 hypospa
dias, 23 crypto
rchidism, 210 c
ontrols)
 Male infertiltiy
Show abstract
15337466 Male infer
tility
 CAG repeats length polymorphism Tunisia
n
 227 (129 infert
ile, 98 fertile
men )
 Male infertiltiy
Show abstract
15229204 Oligozoops
ermic, Azo
ospermic
 GGN polymorphism Swedish
 322 (99 inferti
le, 223 control
s)
 Male infertiltiy
Show abstract
15117901 Spermatoge
netic defe
cts
 CAG repeats length polymorphism
172 men attendi
ng the IVF unit
 Male infertiltiy
Show abstract
15044606 Idiopathic
male infe
rtility
 CAG and GGC repeat lengths polmorphism
278 (163 men wi
th idiopathic i
nfertility, 115
fertile normoz
oospermic men)
 Male infertiltiy
Show abstract
14646391 PAIS, cryt
orchidism
 AR variant (S597R)
(1 PAIS, 8 cryp
torchidism)
 Male infertiltiy
Show abstract
14511217 Male infer
tility
 CAG repeats length polymorphism
183 men with no
n-obstructive a
zoospermia (n =
70), obstructi
ve azoospermia 
(n = 33), sever
e oligospermia
(n = 80) and 59
fertile men
 Male infertiltiy
Show abstract
14511213 Male infer
tility
 CAG repeats length polymorphism
348 (217 infert
ile men, 131 no
rmozoospermic m
en)
 Male infertiltiy
Show abstract
12877254 Male infer
tility
 CAG repeats length polymorphism Hong Ko
ng Chin
ese
 130 (85 nonobst
ructive azoospe
rmic or severe
oligozoospermic
men, 45 ferti
le males)
 Male infertility
Show abstract
12843171 Male pseud
ohermaphro
ditism, CA
IS, PAIS
 S119X, T602P, L768V, I898F, and P904V Brazili
an
 32 subjects wit
h male pseudohe
rmaphroditism f
rom 20 families
(9 CAIS, 11 PA
IS)
 Male infertility
Show abstract
16302589 PAIS, Azoo
spermia
 2881 (G-->A) in exon 7
1 PAIS
 Male infertility
Show abstract
16400085 Male infer
tility
 Indian
 499 (399 infert
ile samples( 27
7 azoospermic,
100 oligozoospe
rmic, and 22 ol
igoteratozoospe
rmic samples),
100 helathy con
trols)
 Male infertility
Show abstract
1280204 Male infer
tility
 GGN and CAG repeats  Swedish
 317 ( 223 men u
nder medical ex
amination befor
e military serv
ice and in 94 m
en referred due
to infertility
and having spe
rm concentratio
ns <5 x 10(6)/m
l.)
 Male infertility
Show abstract
12801573 Spermatoge
netic fail
ure
 173A-->T (Q58L) substitution Finnish
 122 (62 men wit
h spermatogenet
ic failure, 60
controls)
 Male infertility
Show abstract
12713250 Male infer
tility
5 ambiguous gen
italia
 Male infertility
Show abstract
12648179 Male infer
tility
 CAG repeat length Finnish
 341 (192 Finnis
h males with mo
derate or sever
e spermatogenic
failure, 149
control males)
 Male infertility
Show abstract
12634316 Azoospermi
a
 CAG repeat length
198 (102 patien
ts with azoospe
rmia, 96 fertil
e controls)
 Male infertility
Show abstract
12534937 Poor semen
quality
 CAG repeat length Caucasi
an
 198 (105 men wi
th poor semen q
uality, 93 men
with normal sem
en quality )
 Male infertility
Show abstract
12478141 Sertoli-ce
ll-only sy
ndrome, ma
turation a
rrest and
hyposperma
togenesis
 CAG repeat length
125 (70 severel
y infertile pat
ients (37 Serto
li-cell-only sy
ndrome, 15 matu
ration arrest,
18 hypospermato
genesis), 55 fe
rtile men as co
ntrols)
 Male infertility
Show abstract
12399527 Azoospermi
a, Male in
fertility
 CAG repeat length
481 (280 men wi
th azoospermia,
201 men with
normal fertilit
y)
 Male infertility
Show abstract
12220434 Idiopathic
 oligozoos
permia
 CAG repeat length Israel
 111 (61 Israeli
men with sever
e oligo- (n = 1
5) or azoosperm
ia (n = 46), 50
fertile men)
 Male infertility
Show abstract
12042281 Idiopathic
 azoosperm
ia, Machad
o-Joseph d
isease, my
otonic dys
trophy typ
e 1, denta
torubral-p
allidoluys
ian atroph
y
 CAG trinucleotide repeat length
95 (48 azoosper
mia patients, 4
7 controls)
 Male infertility
Show abstract
12006704 AIS
 A870V
3 severe AIS
 Male infertility
Show abstract
11927080 AIS
 thymine deletion in exon 5 at nucleotide 2298 (codon CCT for proline 766)
2 AIS
 Male infertility
Show abstract
11792931 Male subfe
rtility
 CAG repeat length
145 (75 subfert
ile men ( varie
d from azoosper
mia to severe o
ligoasthenotera
tozoospermia),
70 men who pred
ominantly had b
ladder cancer.)
 Male infertility
Show abstract
11788673 AIS
 Arg(840)Cys Chinese
Male infertility
Show abstract
11675466 Male subfe
rtility, S
permatogen
etic defec
ts
 CAG repeat length
203 (91 subject
s with proven f
ertility, and 1
12 subfertile m
en with defecti
ve spermatogene
sis)
 Male infertility
Show abstract
11591424 Cryptorchi
dism
 Japanes
e
 68 (48 patients
with cryptorch
idism, 20 norma
l phenotypic me
n as controls)
 Male infertility
Show abstract
11591412 Idiopathic
male infe
rtility
 CAG repeat length France
 87 (37 infertil
e patients with
azoospermia or
oligospermia,
50 fertile cont
rols )
 Male infertility
Show abstract
11545293 Idiopathic
 azoosperm
ia
 CAG repeat length Japanes
e
 81 (30 men with
idiopathic azo
ospermia and in
51 fertile men
)
 Male infertility
Show abstract
11473958 Klinefelte
r syndrome
, spermato
genetic de
fects
 CAG repeat length
13 patients wit
h Klinefelter's
syndrome eithe
r with (n = 1)
or without (n =
12) spermatoge
nesis
 Male infertility
Show abstract
11443190 Genital ab
normalitie
s
 AR(Gln)n
175 males with
abnormal genita
lia
 Male infertility
Show abstract
11422119 Male infer
tility, Az
oospermia,
Oligozoos
permia
 N233K, N756S
10 azoo- or oli
gozoospermic me
n, presenting w
ith clinical si
gns of low andr
ogen activity-p
oor virilizatio
n and high seru
m LH despite el
evated testoste
rone levels, bu
t without genit
al malformation
s.
 Male infertility
Show abstract
11330644 Azoospermi
a, oligoz
oospermia
 CAG repeat length polymorphism
114 (16 nonobst
ructive azoospe
rmia, 27 severe
oligozoospermi
a, 26 oligozoos
permia, 45 cont
rols)
 Male infertility
Show abstract
11260228 AIS
 Q657stop, G743R, L830V, L701I, A765S, Q802R Mexican
 8 (4 sporadic a
nd 2 familial c
ases with AIS)
 Male infertility
Show abstract
11225909 AIS
 E153X

Male infertility
Show abstract
11172827 Male infer
tility
 CAG repeat length
357 (215 with m
ale infertility
, 142 fertile
controls)
 Male infertility
Show abstract
11044458 Cryptorchi
dism
 Japanes
e
 148 (8 Japanese
males with cry
ptorchidism, 10
0 fertile Japan
ese males)
 Male infertility
Show abstract
10999852 PCOS
 CAG repeat length
203 (91 PCOS, 1
12 controls)
 Male infertility
Show abstract
10999816 Ambiguous
genitalia
 L712F
4 ambiguous gen
italia
 Male infertility
Show abstract
12802043 Male infer
tility
 GGN repeat Swedish
 317 (223 men un
der medical exa
mination before
military servi
ce, 94 men refe
rred due to inf
ertility)
 Male infertility
Show abstract
10946887 Idiopathic
infertili
ty, sperma
togenetic
defects
 Pro390Ser, Gln798Glu
233 (180 males
with variable i
mpairment of sp
ermatogenesis,
53 normal males
)
 Male infertility
Show abstract
10852459 AIS
 Gln824Lys
3 (gynecomastia
, AIS, hormonal
stigmata)
 Male infertility
Show abstract
10749991 Undermascu
linized ge
nitalia
 AR(Gln)(n) repeats
928 (850 contro
ls, 78 undermas
culinized group
)
 Male infertility
Show abstract
10694266 Impaired s
permatogen
esis
 CAG repeat polymorphism Caucasi
an of g
erman e
thnic o
rigin
 1 infertile
 Male infertility
Show abstract
10604712 Idiopathic
 azoosperm
ia
 CAG repeat length polymorphism
89 (41 patients
with idiopathi
c azoospermia,
48 normozoosper
mic fertile men
)
 Male infertility
Show abstract
10517257 Male infer
tility
 CAG repeat length polymorphism Belgian
Male infertility
Show abstract
10502786 PAIS
 Patient mutation:R840S, Other known mutations: R840C, R840G, R840H Brazili
an
 2 PAIS
 Male infertility
Show abstract
10470409 partial an
drogen res
istance, o
ligozoospe
rmia, gyne
comastia,
cryptorchi
dism
 (GTC-> CTC) in codon 911 in exon C
1 partial andro
gen resistance
and severe olig
ozoospermia
 Male infertility
Show abstract
10466666 Male infer
tility, id
iopathic a
zoospermia
, oligozoo
spermia
 CAG repeat polymorphism
67 (35 patients
, 32 controls)
 Male infertility
Show abstract
10359561 Oligosperm
ic
 adenine-->guanine transition that changed codon 886 in exon 8 from methionine to valine.
573 (173 infert
ile men, 400 co
ntrols)
 Male infertility
Show abstract
10333364 Idiopathic
infertili
ty
240 idiopathic
infertility
 Male infertility
Show abstract
10092153 Hypospadia
s, CAIS
35 boys with hy
popadias, 1 gir
l CAIS
 Male infertility, Female infertility AR
WT1
5alpha-reductase
 Show abstract
10050656 Oligozoosp
ermia
 CAG repeats length polymorphism Japanes
e
 95 (59 idiopath
ic Japanese inf
ertile males wi
th oligozoosper
mia, 36 fertile
males as contr
ols)
 Male infertility, Female infertility
Show abstract
9851768 Azoospermi
a
 Q798E
344 (234 subfer
tile males, 110
controls)
 Male infertility, Female infertility
Show abstract
9788719 Male infer
tility
 G-->A transitions in codons 210, 211 and 214 , G214R Indian,
Middle
-Easter
n subje
cts, Ch
inese
 253 (153 subjec
ts with varying
degrees of def
ective spermato
genesis of unkn
own aetiology,
100 healthy fer
tile controls)
 Male infertility, Female infertility
Show abstract
9733433 Male infer
tility
 Y microdeletions, AR polyglutamine tracts Chinese
 303 (202 subfer
tile males, 101
healthy fertil
e controls)
 Male infertility, Female infertility
Show abstract
9720578 cryptorchi
dism
21 patients wit
h isolated cryp
torchidism duri
ng orchiopexy
 Male infertility, Female infertility
Show abstract
9433918 Oligozoosp
ermia, azo
ospermia
6 infertile men
 Male infertility
Show abstract
9302173 AIS
2 AIS
 Male infertility
Show abstract
9160185 Androgen r
esistance 
syndromes
 (C to T substitution) at codon 246, (G to A substitution) at codon 889 Egyptia
n
 7 AIS
Show abstract
9039340 CAIS, PAIS
20 (2 CAIS, com
plete AIS; 18 P
AIS, partial AI
S patients)
 Male infertility, Female infertility
Show abstract
7649358 Reifenstei
nsyndrome,
Schizophr
enia
 A596T
2 Reifensteinsy
ndrome
 Male infertility
Show abstract
7649349 CAIS
 13 base pair deletion within exon 4 -> stop codon at position 783 instead of 919 French
 4 CAIS
 Male infertility
Show abstract
7770997 Male sexua
l developm
ent, Prost
atic cance
r
 ala596-->thr, ser703-->gly, valine715-->methionine
5 patients of 2
families with
perineoscrotal
hypospadia and
undescended tes
tes
 Male infertility
Show abstract
7926115 Male infer
tility, Az
oospermia,
Oligozoos
permia
16 idiopathic o
ligospermic or
azoospermic men
, controls
 Male infertility
Show abstract
7962294 Androgen r
esistance,
Underviri
lized male
syndrome
 leucine (CTC) to phenylalanine (TTC) at position 789
1 undervirilize
d male syndrome
 Male infertility
Show abstract
7929841 Reifenstei
n syndrome
 W739R, F762L, A746D, P764S, R838H, R838C, R853H
7 with complete
testicular fem
inization or Re
ifenstein syndr
ome
 Male infertility
Show abstract
7970939 CAIS, PAIS
, ambiguou
s genitali
a, hyposp
adias, Rei
fenstein
 Deletion of 2nd zinc finger, Arg606His, Asp686His, Asp686His, del(aa)674-714, Met733Val; Met736Thr, Phe755Leu, Met771Ile, Arg822Stop, aa 1-837 wt seq + 32 nonsense aa
11 patients
 Male infertility, Female infertility
Show abstract
8033918 Hypospadia
s
21 hypospadias
 Male infertility, Female infertility
Show abstract
8128958 X-linked R
eifenstein
 syndrome 
(partial a
ndrogenins
ensitivity
) 
 deletion of > 6 kb in intron 2 of the human AR gene, starting 18 bp upstream of exon 3
1 X-linked Reif
enstein syndrom
e (partial andr
ogen insensitiv
ity) 
 Male infertility, Female infertility
Show abstract
7909256 Partial an
drogen ins
ensitivity
(Reifenst
ein syndro
me)
 G-A point mutation at position 2818 of exon 7, which was responsible for an arginine-histidine substitution at position 840

Male infertility
Show abstract
8246999 Reifenstei
n syndrome
 alanine to a threonine at position 596
5 Reifenstein s
yndrome
 Male infertility
Show abstract
8325950 AIS
6 AIS
 Male infertility
Show abstract
8325932 Reifenstei
n syndrome
 glycine (GGG) to valine (GTG) at amino acid 743
1 Reifenstein s
yndrome
 Male infertility
Show abstract
8103398 CAIS

Male infertility, Female infertility
Show abstract
8099270 PAIS
 (adenine to guanine) causing an amino acid change from tyrosine to cysteine at amino acid 761
7 PAIS
 Male infertility, Female infertility
Show abstract
8097257 Perineal h
ypospadias
, bilatera
l cryptorc
hidism, mi
cropenis
 855 (arginine to histidine), 869 ( isoleucine to methionine) Kuwaiti
 2 brothers with
perineal hypos
padias
Male infertility
Show abstract
8446106 PAIS, CAIS
, androgen
resistanc
e
 Val865-Leu, Val865- Met
2 families with
androgen resis
tance
 Male infertility
Show abstract
8421085 Androgen r
esistance
31 with androge
n resistance sy
ndromes
 Male infertility
Show abstract
8019921 Partial an
drogen ins
ensitivity
(Reifenst
ein syndro
me)
 G-A point mutation at position 2818 of exon 7 responsible for an arginine-histidine substitution at position 840

Male infertility
Show abstract
1480178 CAIS
CAIS patients
 Male infertility
Show abstract
1430233 Testicular
 feminizat
ion, Reife
nstein syn
drome
22 unrelated su
bjects
 Male infertility
Show abstract
1458719 Androgen r
esistance
1 46,XY person
is an infertile
phenotypic fem
ale, rsistance
, 38 androgen-r
esistant famili
es
 Male infertility, Female infertility
Show abstract
8768864 AIS
 M780I mutation in exon 6, changing a methionine 780 to isoleucine
3 AIS
 Male infertility, Female infertility
Show abstract
9159192 CAIS
2 CAIS
 Male infertility
Show abstract
8723113 AIS
47 AIS
 Male infertility, Female infertility
Show abstract
8834252 Ambiguous
genitalia,
and well-
developed
Müllerian
structures
, but norm
al appeari
ng testes
2 46,XY karyoty
pe, ambiguous g
enitalia, and w
ell-developed M
üllerian struct
ures, but norma
l appearing tes
tes
 Male infertility, Female infertility
Show abstract
8867599 Oligozoosp
ermia
37 subfertile m
en with oligozo
ospermia
 Male infertility
Show abstract
1424203 PAIS
 valine866leucine, R607K
8 (3 PAIS, 5 co
ntrols
 Male infertility
Show abstract
1609793 CAIS
 Arg773Cys, Arg773His
2 families
 Male infertility
Show abstract
1508223 CAIS
 in-frame deletion of exon C encoding the second zinc finger of the receptor
2 CAIS
 Male infertility
Show abstract
1598912 Reifenstei
n syndrome
, azoosper
mia, gynec
omastia
 guanine-to-adenine transition at nucleotide 2314, which changes the alanine codon (GCC) to a threonine codon (ACC)
5 patients wit
h Reifenstein s
yndrome from 2
unrelated famil
ies
 Male infertility
Show abstract
1569163 CAIS
 methionine (ATG) 786 valine (GTG) Japanes
e
 2 CAIS
 Male infertility
Show abstract
1316540 Incomplete
testicula
r feminiza
tion
 Ser595Gly, Arg615Pro
4 testicular fe
minization
 Male infertility
Show abstract
1750490 Azoospermi
a
 Deletion of AR gene
1
 Male infertility
Show abstract
1856263 Androgen r
esistance
 (CGC----TGC) at nucleotide 2476 leading to R772C
1 patient with
androgen resist
ance
 Male infertility
Show abstract
2293020 Androgen r
esistance
 single nucleotide substitution at nucleotide 1924 in exon 3 resulting in K588Stop
1 patient with
androgen resist
ance
 Male infertility, Female infertility
Show abstract
6801070 Male infer
tility
99 (28 idiopath
ic azoospermia
or oligospermia
, 10 men with a
zoospermia, 5 n
ormal men, 28 s
ubjects with di
sorders of andr
ogen formation,
28 persons wit
h documented di
sorders of the
androgen recept
or (testicular
feminization an
d Reifenstein s
yndrome) )
 Male infertility
Show abstract
3106395 Male infer
tility
58 (40 infertil
e men, 18 norma
l men)
 Male infertility
Show abstract
15497705 Male infer
tility, Sp
ermatogeni
c defects
72 (57 infertil
e men with sper
matogenic arres
t, 15 normal he
althy men)
 Male infertility AR
HSP90alpha
 Show abstract
17148558 Klinefelte
r syndrome
 (KS)
14 boys with Kl
inefelter syndr
ome (KS)
 Male infertility
Show abstract
22419720 Late-onset
 hypogonad
ism (LOH)
 Europea
n
 60 (36 moderate
LOH, 27 severe
LOH)
 Male infertility
Show abstract
1430233 Testicular
 feminizat
ion, Reife
nstein syn
drome
22 (11 had comp
lete testicular
feminization,
4 had incomplet
e testicular fe
minization, 7 h
ad Reifenstein
syndrome )
 Male infertility
Show abstract
7379320 Familial m
ale pseudo
hermaphrod
itism
2 brothers with
male pseudoher
maphroditism
 Male infertility
Show abstract
24850600 Male infer
tility
118 men with in
fertility
 Male infertility AZFc-locus
AR
CFTR
 Show abstract
17566258 Azoospermi
a, Oligozo
ospermia
 CAG repeats in AR gene
272 (136 infert
ile men (19 azo
ospermic, 117 o
ligozoospermic
men), 136 norma
l fertile men)
 Male infertility
Show abstract
15337466 Male infer
tility
 Tunisia
n
 227 (129 infert
ile men, 98 fer
tile men)
 Male infertility
Show abstract
15001585 Partial an
drogen ins
ensitivity
 syndrome 
(PAIS)
 Ser(740)Cys
1 hypogonadotro
pic hypogonadis
m
 Male infertility
Show abstract
25433660 Androgen I
nsensitivi
ty Syndrom
e, Gynecom
astia
 c.2128G>A, [p.Glu710Lys]
1 AIS
 Male infertility
Show abstract
23637914 Hypospadia
s without
micropenis
, cryptorc
hidism
 p.Q58L (c.173A>T), p.P392S (c.1174C>T), p.A475V (c.1424C>T), p.D551H (c.1651G>C) and p.Q799E (c.2395C>G) Caucasi
an
 637 (292 childr
en presenting w
ith isolated hy
pospadias witho
ut micropenis o
r cryptorchidis
m, 345 controls
)
 Male infertility
Show abstract
22469007 Androgen i
nsensitivi
ty syndrom
es (AIS),
azoospermi
a, male in
fertility
 F754S
1 male infertil
ity
 Male infertility
Show abstract
12908100 Androgen i
nsensitivy
 syndrome 
(AIS)
 7 bp is replaced by an insertion of 11 nucleotides, g.2640_2646delAGGATGC/2652_2662insTTCGCCCCTGA, results in a frameshift that introduces a premature termination signal TGA, nine codons downstream, amino acid position 768-919
4 46,XY patient
s born in two g
enerations from
a kindred with
a history of A
IS
 Male infertility
Show abstract
12713250 Androgen i
nsensitivy
 syndrome 
(AIS)
 threonine to isoleucine at codon position 800
5 AIS
 Male infertility
Show abstract
11788616 Androgen i
nsensitivi
ty syndrom
es (AIS)
15 neonates wit
h AIS and AR mu
tation
 Male infertility
Show abstract
9639978 Androgen i
nsensitivi
ty syndrom
e

Male infertility
Show abstract
11549683 Azoospermi
a
 Austral
ian
 181 (75 inferti
le (54 azoosper
mia, 7 near azo
opsermia, 14 no
nazoospermia),
106 population
controls)
 Male infertility
Show abstract
15117901 Teratozoos
permia
 CAG repeat length
172 men attendi
ng the IVF unit
 Male infertility
Show abstract
19276236 Testis dev
elopment

Male infertility
Show abstract
3026952 Mixed gona
dal dysgen
esis
1 46,XY, extern
al genitalia ne
ar normal femal
e, mixed gonada
l dysgenesis, s
evere androgen
receptor defici
ency
 Male infertility
Show abstract
23001776 Oligozoosp
ermic, nor
mozoosperm
ic, sperm
concentrat
ion and mo
tility
 AR(CAG)(n), CYP19(TTTA)(n) polymorphisms
450 (200 oligoz
oospermic, 250
normozoospermic
men )
 Male infertility AR
CYP19
 Show abstract
25850410 Varicocele
-related i
nfertility

Male infertility
Show abstract
25532578 Gynecomast
ia
 c. 728 T > G ->V243G

Male infertility
Show abstract
24522616 Idiopathic
oligoasth
enozoosper
mia
 AR (CAG repeat length), NOS (Glu298Asp variant)

Male infertility
Show abstract
19361789 Male infer
tility, Se
rtoli-cell
-only
 212A-->G in the CAG repeat, Q-->R
21 adult infert
ile men
 Male infertility AR
 Show abstract
18477206 Semen qual
ity
 AR(CAG)n 
114 (85 with no
rmal sperm coun
t, 29 oligosper
mic)
 Male infertility AR
SHBG
 Show abstract
16705072 Ambiguous
genitalia
 A645D Swedish
 572 (293 men fr
om the general
population, 279
men with the f
ollowing disord
ers of the geni
tal tract for t
he mutation (89
men with prost
ate cancer, 87
testicular canc
er, 103 inferti
lity))
 Male infertility AR
 Show abstract
11809188 Male infer
tility
 AR (CAG repeat length)
1554 (119 infer
tile men, 110 m
en with proven
fertility), Pre
vious European
studies (674 in
fertile men, 66
0 controls)
 Male infertility AR
 Show abstract
16929754 SCO syndro
me
35 (21 Sertoli
Cell Only (SCO)
testis, 11 spe
rmatogenesis ar
rest testis, 4
normal testis)
 Male infertility AR
 Show abstract
10694266 Impaired s
permatogen
esis
 Xq11-12, contains in exon 1 a polymorphic CAG repeat Caucaso
id pati
ent sam
ple of
German 
ehtnic
origin
 1 patient with
impaired sperma
togenesis
Male infertility AR
 Show abstract
10956560 Male infer
tility, ne
uromuscula
r diseases
 AR CAG repeats
191 (92 men pre
senting for ICS
I, 99 ICSI-conc
eived daughters
)
 Male infertility, Female infertility AR
 Show abstract
6580856 Male infer
tility
82 (17 normal m
ale controls, 6
5 males with ge
nital abnormali
ties)
 Male infertility AR
 Show abstract
759869 Androgen i
nsensitivi
ty, Defect
ive sperma
togenesis 

Male infertility AR
 Show abstract
9360540 Impaired s
perm produ
ction, mal
e infertil
ity
 Polyglycine repeats, Gln repeat
225 (153 patien
ts with defecti
ve sperm produc
tion, 72 normal
controls of pr
oven fertility)
 Male infertility AR
 Show abstract
2287116 Male infer
tility
100 (56 patient
s with oligozoo
spermia and 5 w
ith azoospermia
for clinical s
tudy, and 17 wi
th varicocele,
22 with vas dis
orders and pros
tatic cancer)
 Male infertility AR
 Show abstract
3093523 Oligosperm
ia, male i
nfertility
 
24 men with sev
ere oligospermi
a
 Male infertility AR
 Show abstract
30770815 Post testi
cular sper
m maturati
on, Male i
nfertility
, epididym
al dysfunc
tion
 K381R, K500R

Male infertility
Show abstract
21084446 Epithelial
hypotroph
y and obst
ructive az
oospermia

Male infertility
Show abstract
29206494 Androgen i
nsensitiiv
ty syndrom
e, Male in
fertility
 c.3864T>C (p. Phe917Leu) Chinese
 1 patient with
CAIS
 Male infertility
Show abstract
17955388 Leydig cel
ls is esse
ntial to m
aintain no
rmal sperm
atogenesis
, testoste
rone produ
ction, and
required
for normal
male fert
ility

Male infertility
Show abstract
15107499 Maintain n
ormal sper
matogenesi
s and test
osterone p
roduction,
and ensur
e normal m
ale fertil
ity

Male infertility
Show abstract
14745012 Causes spe
rmatogenic
arrest in
meiosis

Male infertility
Show abstract
28659371 Mild andro
gen insens
itivity sy
ndrome (MA
IS), Male
infertilit
y
 c.1783C>T 
2 infertile men
 Male infertility
Show abstract
29658246 Spermatoge
nesis defe
cts, Male
infertilit
y

Male infertility
Show abstract
30411392 Male infer
tility
 p.S176R, p.A403V, p.S233F and p.H715N Northea
st Chin
a
 600 (400 male p
atients with id
iopathic infert
ility, 200 fert
ile controls)
 Male infertility
Show abstract
26962784 Azoospermi
a, Male in
fertility
 CAG repeat length Asian,
Caucasi
an, and
mixed
races
Male infertility
Show abstract
30156032 Azoospermi
a, Oligosp
ermia, Ast
henospermi
a, Male in
fertility
 Two trinucleotide polymorphisms (CAG and GGN repeats) in the first exon of AR gene
300 (220 infert
ile men (80 azo
ospermic, 60 ol
igospermic and
80 asthenosperm
ic), 80 healthy
fertile contro
ls)
 Male infertility
Show abstract
26132308 Role in sp
ermatogene
sis

Male infertility
Show abstract
24006278 Role in co
ordinating
epididyma
l function

Male infertility
Show abstract
22038041 Impaired s
permatogen
esis, Male
infertili
ty

Male infertility
Show abstract
31219235 Hypospadia
s
 c.C2612T(p.A871V), c.C2612T(p.A871V), c.G1823A(p.R608Q), c.G1823A(p.R608Q), c.G1789A(p.A597T), c.A173T(p.Q58L) Chinese
 132 cases
 Male infertility NGS
 Show abstract
28215832 Bifid scro
tum and Hy
pospadias
110 subjects wi
th bifid scrotu
m
 Male infertility Karyotype
Microarray
Targeted gene sequencing
 Show abstract
31356021 Male infer
tility
 21 (CAG), 27 or more CAG-trinucleotides
885 infertile m
en
 Male infertility Snapshot PCR
 Show abstract
29264534 PAIS with
infertilit
y associat
ed with az
oospermia,
hypospadi
as, and gy
necomastia
 g.66788676A>C, c.1616+22072A>C, stop codon at chrX:66863131-66863133 Dallas
Reifens
tein Fa
mily
 4 cases
 Male infertility
Show abstract
17327269 Teratozoos
permia
19 (6 controls
, 13 cases)
 Male infertility GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
 Show abstract
21674046 Aberrant C
pGs in Low
Motility
Sperm
18
 Male infertility GSE26881
 Show abstract
32242295 Spermatoge
nic impair
ment
 c.1174 C>T, p.Pro392Ser rs201934623 Caucasi
an
 1100 subjects
 Male infertility
Show abstract
30742848 Complete a
ndrogen in
sensitivit
y syndrome
 c.192_193insTAGCAG(Q65X) in exon 1
2 cases
 Male infertility
Show abstract