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Gene id 2516
Gene Summary     SNPs    Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed    

Gene Summary
Gene Symbol NR5A1   Gene   UCSC   Ensembl
Aliases AD4BP, ELP, FTZ1, FTZF1, POF7, SF-1, SF1, SPGF8, SRXX4, SRXY3, hSF-1
Gene name nuclear receptor subfamily 5 group A member 1
Alternate names steroidogenic factor 1, STF-1, adrenal 4 binding protein, fushi tarazu factor homolog 1, nuclear receptor AdBP4, steroid hormone receptor Ad4BP, steroidogenic factor 1 nuclear receptor, steroidogenic factor-1,
Gene location 9q33.3 (124507419: 124481235)     Exons: 7     NC_000009.12
Gene summary(Entrez) The protein encoded by this gene is a transcriptional activator involved in sex determination. The encoded protein binds DNA as a monomer. Defects in this gene are a cause of XY sex reversal with or without adrenal failure as well as adrenocortical insuff
OMIM 184757

SNPs
rs886039769

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

NC_000009.12   g.124500686G>A
NC_000009.11   g.127262965G>A
NG_008176.1   g.11735C>T
NM_004959.5   c.274C>T
NM_004959.4   c.274C>T
NP_004950.2   p.Arg92Trp|SEQ=[G/A]|GENE=NR5A1

rs387906690

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

NC_000009.12   g.124500568G>A
NC_000009.11   g.127262847G>A
NG_008176.1   g.11853C>T
NM_004959.5   c.392C>T
NM_004959.4   c.392C>T
NP_004950.2   p.Pro131Leu|SEQ=[G/A]|GENE=NR5A1

rs201095702

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

NC_000009.12   g.124500326C>T
NC_000009.11   g.127262605C>T
NG_008176.1   g.12095G>A
NM_004959.5   c.634G>A
NM_004959.4   c.634G>A
NP_004950.2   p.Gly212Ser|SEQ=[C/T]|GENE=NR5A1

rs200163795

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

NC_000009.12   g.124500592C>G
NC_000009.12   g.124500592C>T
NC_000009.11   g.127262871C>G
NC_000009.11   g.127262871C>T
NG_008176.1   g.11829G>C
NG_008176.1   g.11829G>A
NM_004959.5   c.368G>C
NM_004959.5   c.368G>A
NM_004959.4   c.368G>C
NM_004959.4   c.368G>A
NP_00495  

rs1110061

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

NC_000009.12   g.124500523C>A
NC_000009.12   g.124500523C>G
NC_000009.11   g.127262802C>A
NC_000009.11   g.127262802C>G
NG_008176.1   g.11898G>T
NG_008176.1   g.11898G>C
NM_004959.5   c.437G>T
NM_004959.5   c.437G>C
NM_004959.4   c.437G>T
NM_004959.4   c.437G>C
NP_00495  

rs750682280

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

NC_000009.12   g.124500658C>T
NC_000009.11   g.127262937C>T
NG_008176.1   g.11763G>A
NM_004959.5   c.302G>A
NM_004959.4   c.302G>A
NP_004950.2   p.Arg101Gln|SEQ=[C/T]|GENE=NR5A1

rs200749741

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

NC_000009.12   g.124500574G>A
NC_000009.11   g.127262853G>A
NG_008176.1   g.11847C>T
NM_004959.5   c.386C>T
NM_004959.4   c.386C>T
NP_004950.2   p.Pro129Leu|SEQ=[G/A]|GENE=NR5A1

rs143355429

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

NC_000009.12   g.124500173C>T
NC_000009.11   g.127262452C>T
NG_008176.1   g.12248G>A
NM_004959.5   c.787G>A
NM_004959.4   c.787G>A
NP_004950.2   p.Gly263Ser|SEQ=[C/T]|GENE=NR5A1

rs759071081

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

NC_000009.12   g.124491167G>A
NC_000009.11   g.127253446G>A
NG_008176.1   g.21254C>T
NM_004959.5   c.1052C>T
NM_004959.4   c.1052C>T
NP_004950.2   p.Ala351Val|SEQ=[G/A]|GENE=NR5A1

Protein Summary
Protein general information Q13285  

Name: Steroidogenic factor 1 (SF 1) (STF 1) (hSF 1) (Adrenal 4 binding protein) (Fushi tarazu factor homolog 1) (Nuclear receptor subfamily 5 group A member 1) (Steroid hormone receptor Ad4BP)

Length: 461  Mass: 51,636

Tissue specificity: Strongly expressed in kidney, skeletal muscle, heart and placenta. Highly expressed in intestinal cell types affected by Crohn disease, including epithelial cells. Expressed in CD68 macrophage and CD43 T-cells but not in CD20 B-cells.

Sequence MDYSYDEDLDELCPVCGDKVSGYHYGLLTCESCKGFFKRTVQNNKHYTCTESQSCKIDKTQRKRCPFCRFQKCLT
VGMRLEAVRADRMRGGRNKFGPMYKRDRALKQQKKAQIRANGFKLETGPPMGVPPPPPPAPDYVLPPSLHGPEPK
GLAAGPPAGPLGDFGAPALPMAVPGAHGPLAGYLYPAFPGRAIKSEYPEPYASPPQPGLPYGYPEPFSGGPNVPE
LILQLLQLEPDEDQVRARILGCLQEPTKSRPDQPAAFGLLCRMADQTFISIVDWARRCMVFKELEVADQMTLLQN
CWSELLVFDHIYRQVQHGKEGSILLVTGQEVELTTVATQAGSLLHSLVLRAQELVLQLLALQLDRQEFVCLKFII
LFSLDLKFLNNHILVKDAQEKANAALLDYTLCHYPHCGDKFQQLLLCLVEVRALSMQAKEYLYHKHLGNEMPRNN
LLIEMLQAKQT
Structural information
Protein Domains
 NR (222-459)
Interpro:  IPR035500  IPR016355  IPR000536  IPR001723  IPR001628  
IPR013088  
Prosite:   PS51843 PS00031 PS51030

PDB:  		 1YOW 1ZDT 4QJR 4QK4
PDBsum:   1YOW 1ZDT 4QJR 4QK4
MINT:  
STRING:   ENSP00000362690
Other Databases GeneCards:  NR5A1  Malacards:  NR5A1

Gene ontology

Expand All | Collapse All
GO accessionTerm nameEvidence codeGo category
GO:0000976 transcription regulatory
region sequence-specific
DNA binding
 IBA molecular function
GO:0000980 RNA polymerase II distal
enhancer sequence-specifi
c DNA binding
 ISS molecular function
GO:0001553 luteinization
 IEA biological process
GO:0003677 DNA binding
 IDA molecular function
GO:0003682 chromatin binding
 ISS molecular function
GO:0003682 chromatin binding
 IBA molecular function
GO:0003705 transcription factor acti
vity, RNA polymerase II d
istal enhancer sequence-s
pecific binding
 IDA molecular function
GO:0003707 steroid hormone receptor
activity
 IEA molecular function
GO:0003713 transcription coactivator
activity
 TAS molecular function
GO:0004879 RNA polymerase II transcr
iption factor activity, l
igand-activated sequence-
specific DNA binding
 TAS 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:0005543 phospholipid binding
 IDA 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:0006367 transcription initiation
from RNA polymerase II pr
omoter
 TAS biological process
GO:0007267 cell-cell signaling
 TAS biological process
GO:0007538 primary sex determination
 TAS biological process
GO:0008270 zinc ion binding
 IEA molecular function
GO:0008584 male gonad development
 IEA biological process
GO:0009755 hormone-mediated signalin
g pathway
 IBA biological process
GO:0009888 tissue development
 IBA biological process
GO:0010259 multicellular organism ag
ing
 IEA biological process
GO:0019899 enzyme binding
 IPI molecular function
GO:0019899 enzyme binding
 IPI molecular function
GO:0030154 cell differentiation
 IEA biological process
GO:0030325 adrenal gland development
 IEA biological process
GO:0030522 intracellular receptor si
gnaling pathway
 IEA biological process
GO:0042445 hormone metabolic process
 IEA biological process
GO:0043401 steroid hormone mediated
signaling pathway
 IEA biological process
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
 ISS biological process
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
 IMP biological process
GO:0050810 regulation of steroid bio
synthetic process
 TAS biological process
GO:0051457 maintenance of protein lo
cation in nucleus
 IEA biological process
GO:0090575 RNA polymerase II transcr
iption factor complex
 ISS cellular component
GO:0090575 RNA polymerase II transcr
iption factor complex
 IBA cellular component
GO:2000020 positive regulation of ma
le gonad development
 IDA biological process
GO:2000195 negative regulation of fe
male gonad development
 IEA biological process
GO:0000976 transcription regulatory
region sequence-specific
DNA binding
 IBA molecular function
GO:0000980 RNA polymerase II distal
enhancer sequence-specifi
c DNA binding
 IEA molecular function
GO:0000980 RNA polymerase II distal
enhancer sequence-specifi
c DNA binding
 ISS molecular function
GO:0001553 luteinization
 IEA biological process
GO:0003677 DNA binding
 IEA molecular function
GO:0003677 DNA binding
 IEA molecular function
GO:0003677 DNA binding
 IEA molecular function
GO:0003677 DNA binding
 IDA molecular function
GO:0003682 chromatin binding
 IEA molecular function
GO:0003682 chromatin binding
 ISS molecular function
GO:0003682 chromatin binding
 IBA molecular function
GO:0003690 double-stranded DNA bindi
ng
 IEA 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
 IEA molecular function
GO:0003705 transcription factor acti
vity, RNA polymerase II d
istal enhancer sequence-s
pecific binding
 IDA molecular function
GO:0003707 steroid hormone receptor
activity
 IEA molecular function
GO:0003713 transcription coactivator
activity
 TAS molecular function
GO:0004879 RNA polymerase II transcr
iption factor activity, l
igand-activated sequence-
specific DNA binding
 TAS 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:0005543 phospholipid binding
 IDA molecular function
GO:0005634 nucleus
 IEA cellular component
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:0006351 transcription, DNA-templa
ted
 IEA 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:0006355 regulation of transcripti
on, DNA-templated
 IEA biological process
GO:0006357 regulation of transcripti
on from RNA polymerase II
promoter
 IEA biological process
GO:0006366 transcription from RNA po
lymerase II promoter
 IEA biological process
GO:0006367 transcription initiation
from RNA polymerase II pr
omoter
 TAS biological process
GO:0007267 cell-cell signaling
 TAS biological process
GO:0007538 primary sex determination
 TAS biological process
GO:0008270 zinc ion binding
 IEA molecular function
GO:0008289 lipid binding
 IEA molecular function
GO:0008584 male gonad development
 IEA biological process
GO:0008584 male gonad development
 TAS biological process
GO:0008585 female gonad development
 IEA biological process
GO:0009755 hormone-mediated signalin
g pathway
 IBA biological process
GO:0009888 tissue development
 IEA biological process
GO:0009888 tissue development
 IBA biological process
GO:0010259 multicellular organism ag
ing
 IEA biological process
GO:0019899 enzyme binding
 IPI molecular function
GO:0019899 enzyme binding
 IPI molecular function
GO:0022414 reproductive process
 IEA biological process
GO:0030154 cell differentiation
 IEA biological process
GO:0030325 adrenal gland development
 IEA biological process
GO:0030522 intracellular receptor si
gnaling pathway
 IEA biological process
GO:0042445 hormone metabolic process
 IEA biological process
GO:0043401 steroid hormone mediated
signaling pathway
 IEA biological process
GO:0043565 sequence-specific DNA bin
ding
 IEA molecular function
GO:0043565 sequence-specific DNA bin
ding
 IEA molecular function
GO:0045893 positive regulation of tr
anscription, DNA-template
d
 IEA biological process
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
 IEA biological process
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
 ISS biological process
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
 IMP biological process
GO:0046872 metal ion binding
 IEA molecular function
GO:0050810 regulation of steroid bio
synthetic process
 TAS biological process
GO:0051457 maintenance of protein lo
cation in nucleus
 IEA biological process
GO:0090575 RNA polymerase II transcr
iption factor complex
 IEA cellular component
GO:0090575 RNA polymerase II transcr
iption factor complex
 ISS cellular component
GO:0090575 RNA polymerase II transcr
iption factor complex
 IBA cellular component
GO:2000020 positive regulation of ma
le gonad development
 IEA biological process
GO:2000020 positive regulation of ma
le gonad development
 IDA biological process
GO:2000195 negative regulation of fe
male gonad development
 IEA biological process
GO:0000976 transcription regulatory
region sequence-specific
DNA binding
 IBA molecular function
GO:0000980 RNA polymerase II distal
enhancer sequence-specifi
c DNA binding
 ISS molecular function
GO:0003677 DNA binding
 IDA molecular function
GO:0003682 chromatin binding
 ISS molecular function
GO:0003682 chromatin binding
 IBA molecular function
GO:0003705 transcription factor acti
vity, RNA polymerase II d
istal enhancer sequence-s
pecific binding
 IDA molecular function
GO:0003713 transcription coactivator
activity
 TAS molecular function
GO:0004879 RNA polymerase II transcr
iption factor activity, l
igand-activated sequence-
specific DNA binding
 TAS 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:0005543 phospholipid binding
 IDA 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:0006367 transcription initiation
from RNA polymerase II pr
omoter
 TAS biological process
GO:0007267 cell-cell signaling
 TAS biological process
GO:0007538 primary sex determination
 TAS biological process
GO:0008584 male gonad development
 TAS biological process
GO:0009755 hormone-mediated signalin
g pathway
 IBA biological process
GO:0009888 tissue development
 IBA biological process
GO:0019899 enzyme binding
 IPI molecular function
GO:0019899 enzyme binding
 IPI molecular function
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
 ISS biological process
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
 IMP biological process
GO:0050810 regulation of steroid bio
synthetic process
 TAS biological process
GO:0090575 RNA polymerase II transcr
iption factor complex
 ISS cellular component
GO:0090575 RNA polymerase II transcr
iption factor complex
 IBA cellular component
GO:2000020 positive regulation of ma
le gonad development
 IDA biological process

KEGG pathways

Expand All | Collapse All

Pathway idPathway name
hsa04927Cortisol synthesis and secretion
hsa04934Cushing syndrome

Diseases

Expand All | Collapse All
Associated diseases References
Adrenal insufficiency GAD: 19439508
Diabetes GAD: 16564598
Diabetes GAD: 16564598
Hypospadias GAD: 19439508
Adrenal Insufficiency GAD: 19439508
Micropenis GAD: 16127213
Premature ovarian insufficiency (POI) INFBASE: 24067197
Mullerian structure defects INFBASE: 17656604
Premature ovarian insufficiency (POI) INFBASE: 23153500
Poor sexual development INFBASE: 21366396
Premature ovarian insufficiency (POI) INFBASE: 24405868
Premature ovarian insufficiency (POI) INFBASE: 22100173
Primary amenorrhea INFBASE: 23096908
Primary amenorrhea INFBASE: 23096908
Primary amenorrhea INFBASE: 19246354
Primary amenorrhea INFBASE: 15579739
Secondary amennorhea INFBASE: 22100173
Posterior hypospadias INFBASE: 21163476
Endometrial polyp INFBASE: 25354862
Endometriosis INFBASE: 26530052
Phallic hypoplasia/clitoromegaly INFBASE: 17694559
Oligomenorrhea INFBASE: 11297612
Isolated clitoromegaly INFBASE: 20302644
Primary amenorrhea INFBASE: 21366396
Primary amenorrhea INFBASE: 21242195
Primary amenorrhea INFBASE: 20302644
Primary ovarian insufficiency INFBASE: 23543655
Complete gonadal dysgenesis (CGD) INFBASE: 24056159
Disorders of sexual development (DSD) INFBASE: 24056159
Ovarian endometriosis INFBASE: 23450049
Hypogonadotropic hypogonadism INFBASE: 23096908
Female infertility INFBASE: 23096908
Gonadal dysgenesis INFBASE: 22907560
Clitoral hypertrophy INFBASE: 22474171
Hypogonadotropic hypogonadism INFBASE: 22080441
Disorders of sexual development (DSD) INFBASE: 22028768
Anorchia INFBASE: 21853106
Female infertility INFBASE: 21366396
Gonadal dysgenesis INFBASE: 21242195
Partial androgen insensitivity syndrome (PAIS) INFBASE: 17488792
Fusion of the labioscrotal folds, a single perineal opening representing a urogenital sinus, and palpable inguinal gonads INFBASE: 17694559
Premature ovarian failure (POF) INFBASE: 22951804
Premature ovarian failure (POF) INFBASE: 23918653
Preserved fertility INFBASE: 22907560
Uterine or ovarian hypoplasia INFBASE: 23096908
Uterine or ovarian hypoplasia INFBASE: 23096908
XX male syndrome INFBASE: 21340153
XY sex reversal with clitoromegaly INFBASE: 19269353
Premature ovarian failure (POF) KEGG: H00627
Spermatogenesis defects KEGG: H01282
Male factor infertility MIK: 25989977
Hypospadias MIK: 21788424
Hypospadias MIK: 21340153
Maturation arrest MIK: 16834661
Hypospadias MIK: 23729601
Sertoli cell deficiency MIK: 21163476
Sertoli cell deficiency MIK: 21163476
Sertoli cell dysfunction MIK: 22474171
Sertoli cell function MIK: 21163476
Penoscrotal hypospadias MIK: 19439508
Penoscrotal hypospadias MIK: 19439508
Azoospermia MIK: 24067197
Hypogonadotropic hypogonadism MIK: 23585175
Azoospermia MIK: 23299922
Cryptorchidism MIK: 21788424
Idiopathic micropenis MIK: 21535007
Male factor infertility MIK: 23299922
Pseudohermaphroditism MIK: 15379426
Non obstructive azoospermia MIK: 16834661
Male factor infertility MIK: 21535007
Cryptozoospermia MIK: 20887963
Azoospermia MIK: 20887963
Hypospermatogenesis MIK: 16834661
Male factor infertility MIK: 24067197
Sertoli cell only syndrome (SCOS) MIK: 16834661
Testis dysgenesis MIK: 17488792
Micropenis MIK: 21163476
Neonatal male testosterone and AMH levels MIK: 19269353
Preserved fertility MIK: 22907560
Oligozoospermia MIK: 23299922
Oligozoospermia MIK: 20887963
XY sex reversal with clitoromegaly MIK: 19269353
Sex determination MIK: 8205615
Sex determination MIK: 8205615
Sex reversal MIK: 12907682
Sex reversal MIK: 12907682
Adrenocortical insufficiency OMIM: 184757
Premature ovarian failure (POF) OMIM: 184757
Spermatogenesis defects OMIM: 184757
Hypogonadotropic hypogonadism INFBASE: 17200175
Adrenal failure INFBASE: 16684822
Hypogonadotropic hypogonadism INFBASE: 16684822
Hirsutism INFBASE: 15579739
Congenital adrenal hypoplasia INFBASE: 15379426
Female infertility INFBASE: 15379426
Hyperandrogenism INFBASE: 11297612
Adrenocortical insufficiency INFBASE: 11038323
Atrophic vasa deferentia and epididymides MIK: 17656604
Dysgenetic testes MIK: 17656604
Azoospermia MIK: 24750329
46, XY males without adrenal insufficiency MIK: 19439508
Azoospermia MIK: 24750329
46, XY disorder of sex development without adrenal insufficiency MIK: 27135758
46, XY males without adrenal insufficiency MIK: 19439508
Cryptorchidism MIK: 25989977
46, XY sex reversal OMIM: 184757
46, XX sex reversal OMIM: 184757
46,XY disorders of sex differentiation MIK: 21788424
Big scrotal folds MIK: 21163476
46,XY sex-reversal phenotype without dysgenesis MIK: 20350242
46, XY disorder of sex development without adrenal insufficiency INFBASE: 27135758
46,XX ovarian insufficiency INFBASE: 20861607
Hypospadias MIK: 23729601
Intra-abdominal testes INFBASE: 15379426
46, XY partial gonadal dysgenesis MIK: 19246354
46,XX primary ovarian insufficiency INFBASE: 19246354
46, XY disorder of sex development MIK: 19246354
46, XY disorder of sex development MIK: 26681172
46, XY is gonadal dysgenesis MIK: 25502990
Ambiguous genitalia INFBASE: 24405868
46, XY patients with disorders of sex development MIK: 22474171
46, XY disorder of sex development MIK: 23918653
46, XY and ovarian insufficiency MIK: 22774212
46, XY is gonadal dysgenesis MIK: 25502990
Ambiguous genitalia MIK: 24405868
46, XX ovarian insufficiency MIK: 20861607
46, XY disorder of sex development MIK: 20861607
Pfeiffer syndrome KEGG: H01756
46 XY DSD without adrenal insufficiency MIK: 27135758
46,XY disorders of sex development MIK: 24591553
46,XX ovarian insufficiency MIK: 20861607
Premature ovarian failure MIK: 23918653
Sertoli cell deficiency MIK: 21163476
Ambiguous genitalia MIK: 24405868
Primary ovarian insufficiency MIK: 24405868
46,XY is gonadal dysgenesis MIK: 25502990
Aberrant CpGs in Low Motility Sperm MIK: 21674046
Azoospermia MIK: 24750329
Oligozoospermia MIK: 29265478
Cryptorchidism MIK: 28606200
Male factor infertility MIK: 25989977
46,XY gonadal dysgenesis MIK: 25989977
Hypospadias MIK: 23729601
Male sex reversal MIK: 32271476
Testicular disorder of sex development (TDSD) MIK: 32271476
Penoscrotal hypospadias MIK: 19439508
46,XY males without adrenal insufficiency MIK: 19439508
Preserved fertility MIK: 22907560
Sex determination MIK: 8205615
Sex reversal MIK: 12907682
Spermatogenic impairment MIK: 32242295
XY gonadal disorder of sex development MIK: 21654157
XY sex reversal with clitoromegaly MIK: 19269353

PubMed references

Expand All | Collapse All
PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
24067197 Infertilit
y
 Segregating NR5A1 mutation Iranian
 1 family
 Male infertility, Female infertility
Show abstract
23729601 Infertilit
y
 NR5A1 mutations Chinese
 52 patients
 Male infertility
Show abstract
23585175 Infertilit
y
 NR5A1 mutations
50 patients
 Male infertility, Female infertility
Show abstract
23299922 Infertilit
y
 Three heterozygous missense mutations in SF1 Caucasi
an
 725 (488 azoosp
ermic/oligosper
mic, 237 contro
ls)
 Male infertility
Show abstract
23096908 Infertilit
y
 c.437G>C (p.Gly146Ala), c.351C>G (p.Gly117Gly), 1655 C>T, 2973T>C in exon7
150 (50 patient
s, 100 controls
)
 Male infertility, Female infertility
Show abstract
22907560 Infertilit
y
 c.938G?A->p.Arg313His

Male infertility
Show abstract
22474171 Infertilit
y
 p.L376F, p.G328V German
Caucasi
an
 2 patients
 Male infertility, Female infertility
Show abstract
22080441 Infertilit
y
 c.9TOA, p.Tyr3X, deletion exons 2 and 3 (NCBI36/hg18 Chr9:g.(126306276-126307705)_(126303229-126302828)del)
2 patients
Male infertility, Female infertility
Show abstract
22028768 Infertilit
y
 p.Trp279Arg, p.Arg39Pro, c.390delG, c.140_141insCACG, p.Arg313Cys
77 (11 partial
gonadal dysgene
sis, 33 ambiguo
us external gen
italia without
uterus, 28 hypo
spadias had a n
ormal penis len
gth and palpab
le inguinal or
intrascrotal go
nads bilaterall
y,5 hypospadias
had a normal p
enis length an
d palpable ingu
inal or intrasc
 Male infertility, Female infertility
Show abstract
21853106 Infertilit
y
26 patients
 Male infertility
Show abstract
21788424 Infertilit
y
 French
with Me
diterra
nean or
igin (F
rance,
Italian
, Spani
sh, Por
tuguese
, or No
rth Afr
ican)
 47 patients
 Male infertility
Show abstract
21535007 Infertilit
y
 p.K63Q
26 patients, 25
controls
 Male infertility
Show abstract
21340153 Infertilit
y
1 patient
 Male infertility
Show abstract
21163476 Infertilit
y
 c.842G>C (p.Arg281Pro)
1 patient
 Male infertility
Show abstract
20887963 Infertilit
y
 p.Gly123Ala (c.368G>C),p.Pro129Leu (c.386C>T), p.Gly146Ala, p.Asp238Asn (c.712G>A), p.Gly123Ala (c.368G>C), p.Pro131Leu (c.392C>T), p.Arg191Cys (c.571C>T), p.Gly212Ser (c.634G>A) Parisia
n popul
ation m
ixed an
cestory
 2433 (315 unexp
lained infertil
ity, 1064 DNA s
amples from 52
world wide popu
lations, 140 Fr
ench men, 89 me
n of West Afric
an origin, 96 m
en of North Afr
ican origin, 37
0 fertile men,
331 European de
scent, 140 Nort
h African, 63 W
est African, 15
6 Indians, 30 E
 Male infertility
Show abstract
17200175 Infertilit
y
 V15M, M78I, G91S, L437Q British
Caucas
ian, It
alian C
aucasia
n, Fiji
an, Bri
tish Ca
ucasian
,
30 patients ( 1
2 complete gona
dal dysgenesis,
6 partial/mild
gonadal dysgen
esis, clitorome
galy,uterus, 2
partial/mild GD
, female extern
al genitalia, n
o uterus, 7 par
tial/mild GD, c
litoromegaly/la
bial rugosity/a
mbiguous genita
lia, no uterus,
3 mild GD, hyp
 Male infertility, Female infertility
Show abstract
16834661 Infertilit
y
22 patients, 8
controls
 Male infertility
Show abstract
16684822 Infertilit
y
 G35E, R92Q
117 patients (8
8 infancy/child
hood onset of s
teroid biosynth
etic defects, m
etabolic disord
ers and autoimm
une disorders ,
adult onset gr
oup who present
ed with primary
adrenal failur
e of unknown et
iology after pu
berty)
 Male infertility, Female infertility
Show abstract
16500365 Infertilit
y
 Gly146Ala Japanes
e
 208 (72 cryptor
chid patients
( 56 unilateral
CO (U-CO) (48
inguinal and ei
ght abdominal)
and 16 patients
with bilateral
CO (B-CO) (15
inguinal and on
e abdominal)),
136 control mal
es)
 Male infertility
Show abstract
Hypospadia
s
 Chinese
 52 boys with hy
pospadias
 Male infertility SRD5A2
SF-1
AR
 Show abstract
25502990 46,XY is g
onadal dys
genesis
 c.910G>A, p.E304K

Male infertility
Show abstract
24750329 Azoospermi
a
 p.P97T, p.E237K Iranian
 202 (90 idiopat
hic azoospermic
infertile men,
112 fertile me
n)
 Male infertility
Show abstract
24405868 46,XY DSD,
ambiguous
genitalia
, primary 
ovarian in
sufficienc
y
p.Cys65Tyr
4 (3 46,XY sibl
ings, 1 female
with POI)
 Male infertility, Female infertility AR
SRD5A2
NR5A1
 Show abstract
27135758 46 XY DSD
without ad
renal insu
fficiency
 c.814A > C (p. T272P)
1 DSD
 Male infertility
Show abstract
22474171 46,XY pati
ents with
disorders
of sex dev
elopment
 p.L376F, p.G328V
2 46,XY DSD
 Male infertility, Female infertility
Show abstract
20861607 46,XY diso
rders of s
ex develop
ment (DSD)
, 46,XX ov
arian insu
fficiency
 W279X, intronic deletion (g3314-3317delTCTC (IVS 4 + 8), Y183X
7 (6 46,XY DSD
or hypospadias
, 1 46,XX ovari
an insufficienc
y)
 Male infertility, Female infertility
Show abstract
19439508 Penoscrota
l hypospad
ias, 46,XY
males wit
hout adren
al insuffi
ciency
 p.Q107X/WT, p.E11X/WT, intron 2 (c.103-3A/WT)
60 individuals
with hypospadia
s, 46,XY males
without adrenal
insufficiency
 Male infertility
Show abstract
19269353 XY sex rev
ersal with
clitorome
galy

Male infertility
Show abstract
8205615 Sex determ
ination

Male infertility, Female infertility
Show abstract
25989977 Cryptorchi
dism, Male
factor in
fertility,
46,XY gon
adal dysge
nesis
 TR?AMI allele
959 with crypto
rchidism
 Male infertility
Show abstract
24591553 46,XY diso
rders of s
ex develop
ment
 p.Glu121AlafsX25, p.Arg62Cys, p.Ala154Thr Egyptia
n
 50 Egyptian XY
DSD patients (w
ithout adrenal
insufficiency)
 Male infertility
Show abstract
12907682 Sex revers
al
 G35E

Male infertility, Female infertility
Show abstract
23918653 46,XY diso
rders of s
ex develop
ment, prem
ature ovar
ian failur
e
 NR5A1 CNV
68 (11 patients
with unexplain
ed 46,XY DSD, 2
1 proximal hypo
spadias, 36 46,
XX POF)
 Male infertility, Female infertility
Show abstract
29265478 Azoospermi
a, Oligozo
ospermia,
Male infer
tility
929 (502 infert
ile men of whic
h, 414 were non
-obstructive az
oospermic and 8
8 severe oligoz
oospermic, alon
g with 427 ethn
ically matched
fertile control
s)
 Male infertility
Show abstract
32271476 Male sex r
eversal, T
esticular
disorder o
f sex deve
lopment (T
DSD), Hypo
spadias
 c.274C>T, p.(Arg92Trp) Iranian
Male infertility
Show abstract
27169744 Gonadal dy
sgenesis
 p.Q206Tfs*20 and p.Arg313Cys
2 patients
 Male infertility NGS
 Show abstract
21674046 Aberrant C
pGs in Low
Motility
Sperm
18
 Male infertility GSE26881
 Show abstract
29961538 Male facto
r infertil
ity
318 (128 couple
s presenting wi
th OAT (MF) and
118 maternal a
ge-matched cont
rol (no MF) sub
jects undergoin
g infertility t
reatment, 72 su
rplus cryoprese
rved blastocyst
s)
 Male infertility RNA-seq
 Show abstract
28606200 Cryptorchi
dism
Monozgotic twin
s (1 control, I
cwith cryptorc
hidism)
 Male infertility MeDIP-Seq
 Show abstract
32242295 Spermatoge
nic impair
ment
 c.302 C>T, p.Arg101Gln rs750682280, c.368 C>G, p.Gly123Ala rs200163795, c.386 G>A, p.Pro129Leu rs200749741, c.787 C>T, p.Gly263Ser rs143355429, c.1052 G>A, p.Ala351Val rs759071081 Caucasi
an
 1100 subjects
 Male infertility
Show abstract
29332064 Hypospadia
s
 intragenic duplication within the repeated area (CTGCAGCTG)×2
1 case
 Male infertility
Show abstract
21654157 XY gonadal
disorder
of sex dev
elopment

Male infertility
Show abstract