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Gene id 2099
Gene Summary     SNPs    Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed    

Gene Summary
Gene Symbol ESR1   Gene   UCSC   Ensembl
Aliases ER, ESR, ESRA, ESTRR, Era, NR3A1
Gene name estrogen receptor 1
Alternate names estrogen receptor, E2 receptor alpha, ER-alpha, estradiol receptor, estrogen nuclear receptor alpha, estrogen receptor alpha E1-E2-1-2, estrogen receptor alpha E1-N2-E2-1-2, nuclear receptor subfamily 3 group A member 1, oestrogen receptor alpha,
Gene location 6q25.1-q25.2 (151654147: 152129618)     Exons: 23     NC_000006.12
Gene summary(Entrez) This gene encodes an estrogen receptor, a ligand-activated transcription factor composed of several domains important for hormone binding, DNA binding, and activation of transcription. The protein localizes to the nucleus where it may form a homodimer or
OMIM 133430

SNPs
rs9340978

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

NC_000006.12   g.152012810G>A
NC_000006.11   g.152333945G>A
NG_008493.2   g.361120G>A|SEQ=[G/A]|GENE=ESR1

rs9340958

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

NC_000006.12   g.152009538C>T
NC_000006.11   g.152330673C>T
NG_008493.2   g.357848C>T|SEQ=[C/T]|GENE=ESR1

rs2077647

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

NC_000006.12   g.151807942T>A
NC_000006.12   g.151807942T>C
NC_000006.11   g.152129077T>A
NC_000006.11   g.152129077T>C
NG_008493.2   g.156252T>A
NG_008493.2   g.156252T>C
NM_000125.4   c.30T>A
NM_000125.4   c.30T>C
NM_000125.3   c.30T>A
NM_000125.3   c.30T>C
NM_0011227  

rs9397080

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

NC_000006.12   g.152059380C>T
NC_000006.11   g.152380515C>T
NG_008493.2   g.407690C>T|SEQ=[C/T]|GENE=ESR1

rs3798577

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

NC_000006.12   g.152099995T>C
NC_000006.11   g.152421130T>C
NG_008493.2   g.448305T>C
NM_000125.4   c.*1029T>C
NM_000125.3   c.*1029T>C
NM_001122742.1   c.*1029T>C
NM_001122740.1   c.*1029T>C
NM_001291230.1   c.*1029T>C
NM_001122741.1   c.*1029T>C
NM_001291241.1   c.*10

rs1643821

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

NC_000006.12   g.151862416G>A
NC_000006.11   g.152183551G>A
NG_008493.2   g.210726G>A|SEQ=[G/A]|GENE=ESR1

rs11155819

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

NC_000006.12   g.151878224T>C
NC_000006.11   g.152199359T>C
NG_008493.2   g.226534T>C|SEQ=[T/C]|GENE=ESR1

rs1884052

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

NC_000006.12   g.151970231G>C
NC_000006.12   g.151970231G>T
NC_000006.11   g.152291366G>C
NC_000006.11   g.152291366G>T
NG_008493.2   g.318541G>C
NG_008493.2   g.318541G>T|SEQ=[G/C/T]|GENE=ESR1

rs3020328

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

NC_000006.12   g.151984370C>A
NC_000006.12   g.151984370C>T
NC_000006.11   g.152305505C>A
NC_000006.11   g.152305505C>T
NG_008493.2   g.332680C>A
NG_008493.2   g.332680C>T|SEQ=[C/A/T]|GENE=ESR1

rs6905370

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

NC_000006.12   g.152005062G>A
NC_000006.11   g.152326197G>A
NG_008493.2   g.353372G>A|SEQ=[G/A]|GENE=ESR1

rs13203975

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

NC_000006.12   g.152011969G>A
NC_000006.11   g.152333104G>A
NG_008493.2   g.360279G>A|SEQ=[G/A]|GENE=ESR1

rs926779

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

NC_000006.12   g.152034785G>A
NC_000006.11   g.152355920G>A
NG_008493.2   g.383095G>A|SEQ=[G/A]|GENE=ESR1

rs3020364

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

NC_000006.12   g.152045983A>G
NC_000006.12   g.152045983A>T
NC_000006.11   g.152367118A>G
NC_000006.11   g.152367118A>T
NG_008493.2   g.394293A>G
NG_008493.2   g.394293A>T|SEQ=[A/G/T]|GENE=ESR1

rs3020371

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

NC_000006.12   g.152062685C>A
NC_000006.12   g.152062685C>T
NC_000006.11   g.152383820C>A
NC_000006.11   g.152383820C>T
NG_008493.2   g.410995C>A
NG_008493.2   g.410995C>T|SEQ=[C/A/T]|GENE=ESR1

rs3020375

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

NC_000006.12   g.152068833A>C
NC_000006.12   g.152068833A>T
NC_000006.11   g.152389968A>C
NC_000006.11   g.152389968A>T
NG_008493.2   g.417143A>C
NG_008493.2   g.417143A>T|SEQ=[A/C/T]|GENE=ESR1

rs2228480

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

NC_000006.12   g.152098960G>A
NC_000006.11   g.152420095G>A
NG_008493.2   g.447270G>A
NM_000125.4   c.1782G>A
NM_000125.3   c.1782G>A
NM_001122742.1   c.1782G>A
NM_001122740.1   c.1782G>A
NM_001291230.1   c.1788G>A
NM_001122741.1   c.1782G>A
NM_001291241.1   c.1779G>A
X  

rs6932902

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

NC_000006.12   g.152055389G>A
NC_000006.11   g.152376524G>A
NG_008493.2   g.403699G>A|SEQ=[G/A]|GENE=ESR1

rs1801132

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

NC_000006.12   g.151944387G>A
NC_000006.12   g.151944387G>C
NC_000006.12   g.151944387G>T
NC_000006.11   g.152265522G>A
NC_000006.11   g.152265522G>C
NC_000006.11   g.152265522G>T
NG_008493.2   g.292697C>G
NG_008493.2   g.292697C>A
NG_008493.2   g.292697C>T
NM_000125.  

rs2207396

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

NC_000006.12   g.152061247G>A
NC_000006.11   g.152382382G>A
NG_008493.2   g.409557G>A|SEQ=[G/A]|GENE=ESR1

rs2234693

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

NC_000006.12   g.151842200T>C
NC_000006.12   g.151842200T>G
NC_000006.11   g.152163335T>C
NC_000006.11   g.152163335T>G
NG_008493.2   g.190510T>C
NG_008493.2   g.190510T>G|SEQ=[T/C/G]|GENE=ESR1

rs9340799

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

NC_000006.12   g.151842246A>G
NC_000006.11   g.152163381A>G
NG_008493.2   g.190556A>G|SEQ=[A/G]|GENE=ESR1

Protein Summary
Protein general information P03372  

Name: Estrogen receptor (ER) (ER alpha) (Estradiol receptor) (Nuclear receptor subfamily 3 group A member 1)

Length: 595  Mass: 66216

Tissue specificity: Widely expressed. Isoform 3 is not expressed in the pituitary gland. {ECO

Sequence MTMTLHTKASGMALLHQIQGNELEPLNRPQLKIPLERPLGEVYLDSSKPAVYNYPEGAAYEFNAAAAANAQVYGQ
TGLPYGPGSEAAAFGSNGLGGFPPLNSVSPSPLMLLHPPPQLSPFLQPHGQQVPYYLENEPSGYTVREAGPPAFY
RPNSDNRRQGGRERLASTNDKGSMAMESAKETRYCAVCNDYASGYHYGVWSCEGCKAFFKRSIQGHNDYMCPATN
QCTIDKNRRKSCQACRLRKCYEVGMMKGGIRKDRRGGRMLKHKRQRDDGEGRGEVGSAGDMRAANLWPSPLMIKR
SKKNSLALSLTADQMVSALLDAEPPILYSEYDPTRPFSEASMMGLLTNLADRELVHMINWAKRVPGFVDLTLHDQ
VHLLECAWLEILMIGLVWRSMEHPGKLLFAPNLLLDRNQGKCVEGMVEIFDMLLATSSRFRMMNLQGEEFVCLKS
IILLNSGVYTFLSSTLKSLEEKDHIHRVLDKITDTLIHLMAKAGLTLQQQHQRLAQLLLILSHIRHMSNKGMEHL
YSMKCKNVVPLYDLLLEMLDAHRLHAPTSRGGASVEETDQSHLATAGSTSSHSLQKYYITGEAEGFPATV
Structural information
Protein Domains
 (311..54-)
(/note="NR-LBD)
(/evidence="ECO:0000255|PROSITE-ProRule:PRU01189"-)
Interpro:  IPR035500  IPR000536  IPR001723  IPR024178  IPR001292  
IPR024736  IPR001628  IPR013088  
Prosite:   PS51843 PS00031 PS51030

PDB:  		 1A52 1AKF 1ERE 1ERR 1G50 1GWQ 1GWR 1HCP 1HCQ 1L2I 1PCG 1QKT 1QKU 1R5K 1SJ0 1UOM 1X7E 1X7R 1XP1 1XP6 1XP9 1XPC 1XQC 1YIM 1YIN 1ZKY 2AYR 2B1V 2B1Z 2B23 2BJ4 2FAI 2G44 2G5O 2I0J 2IOG 2IOK 2JF9 2JFA 2LLO 2LLQ 2OCF 2OUZ 2P15 2POG 2Q6J 2Q70 2QA6 2QA8 2QAB 2QE4 2QGT 2QGW 2QH6 2QR9 2QSE 2QXM 2QXS 2QZO 2R6W 2R6Y 2YAT 2YJA 3CB
PDBsum:   1A52 1AKF 1ERE 1ERR 1G50 1GWQ 1GWR 1HCP 1HCQ 1L2I 1PCG 1QKT 1QKU 1R5K 1SJ0 1UOM 1X7E 1X7R 1XP1 1XP6 1XP9 1XPC 1XQC 1YIM 1YIN 1ZKY 2AYR 2B1V 2B1Z 2B23 2BJ4 2FAI 2G44 2G5O 2I0J 2IOG 2IOK 2JF9 2JFA 2LLO 2LLQ 2OCF 2OUZ 2P15 2POG 2Q6J 2Q70 2QA6 2QA8 2QAB 2QE4 2QGT 2QGW 2QH6 2QR9 2QSE 2QXM 2QXS 2QZO 2R6W 2R6Y 2YAT 2YJA 3CB

DIP:  
5965
MINT:  
STRING:   ENSP00000405330
Other Databases GeneCards:  ESR1  Malacards:  ESR1

Gene ontology

Expand All | Collapse All
GO accessionTerm nameEvidence codeGo category
GO:0000122 negative regulation of tr
anscription from RNA poly
merase II promoter
 IMP 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:0001046 core promoter sequence-sp
ecific DNA binding
 IDA molecular function
GO:0001077 transcriptional activator
activity, RNA polymerase
II core promoter proxima
l region sequence-specifi
c binding
 IDA molecular function
GO:0001223 transcription coactivator
binding
 IEA molecular function
GO:0001547 antral ovarian follicle g
rowth
 IEA biological process
GO:0002076 osteoblast development
 IEA biological process
GO:0003682 chromatin binding
 IDA molecular function
GO:0003700 transcription factor acti
vity, sequence-specific D
NA binding
 NAS molecular function
GO:0003707 steroid hormone receptor
activity
 TAS molecular function
GO:0005496 steroid binding
 ISS 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: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:0005634 nucleus
 IDA cellular component
GO:0005654 nucleoplasm
 TAS cellular component
GO:0005654 nucleoplasm
 TAS cellular component
GO:0005737 cytoplasm
 IDA cellular component
GO:0005739 mitochondrion
 IEA cellular component
GO:0005794 Golgi apparatus
 IEA cellular component
GO:0005886 plasma membrane
 IDA cellular component
GO:0006338 chromatin remodeling
 NAS biological process
GO:0006351 transcription, DNA-templa
ted
 TAS biological process
GO:0006355 regulation of transcripti
on, DNA-templated
 NAS biological process
GO:0006366 transcription from RNA po
lymerase II promoter
 IDA biological process
GO:0006367 transcription initiation
from RNA polymerase II pr
omoter
 TAS biological process
GO:0007165 signal transduction
 TAS biological process
GO:0007165 signal transduction
 TAS biological process
GO:0007200 phospholipase C-activatin
g G-protein coupled recep
tor signaling pathway
 ISS biological process
GO:0007204 positive regulation of cy
tosolic calcium ion conce
ntration
 ISS biological process
GO:0008013 beta-catenin binding
 IPI molecular function
GO:0008134 transcription factor bind
ing
 IPI molecular function
GO:0008209 androgen metabolic proces
s
 IEA biological process
GO:0008270 zinc ion binding
 IEA molecular function
GO:0010629 negative regulation of ge
ne expression
 IDA biological process
GO:0010863 positive regulation of ph
ospholipase C activity
 ISS biological process
GO:0016020 membrane
 NAS cellular component
GO:0016021 integral component of mem
brane
 IEA cellular component
GO:0019899 enzyme binding
 IPI molecular function
GO:0019899 enzyme binding
 IPI molecular function
GO:0030235 nitric-oxide synthase reg
ulator activity
 NAS molecular function
GO:0030284 estrogen receptor activit
y
 NAS molecular function
GO:0030315 T-tubule
 IEA cellular component
GO:0030518 intracellular steroid hor
mone receptor signaling p
athway
 ISS biological process
GO:0030520 intracellular estrogen re
ceptor signaling pathway
 NAS biological process
GO:0031798 type 1 metabotropic gluta
mate receptor binding
 IEA molecular function
GO:0032355 response to estradiol
 IDA biological process
GO:0032403 protein complex binding
 IEA molecular function
GO:0034056 estrogen response element
binding
 IDA molecular function
GO:0034056 estrogen response element
binding
 IDA molecular function
GO:0034056 estrogen response element
binding
 IDA molecular function
GO:0035327 transcriptionally active
chromatin
 IDA cellular component
GO:0036312 phosphatidylinositol 3-ki
nase regulatory subunit b
inding
 IEA molecular function
GO:0038052 RNA polymerase II transcr
iption factor activity, e
strogen-activated sequenc
e-specific DNA binding
 IDA molecular function
GO:0038052 RNA polymerase II transcr
iption factor activity, e
strogen-activated sequenc
e-specific DNA binding
 IGI molecular function
GO:0042562 hormone binding
 IEA molecular function
GO:0042802 identical protein binding
 IPI molecular function
GO:0042802 identical protein binding
 IPI molecular function
GO:0042802 identical protein binding
 IPI molecular function
GO:0042802 identical protein binding
 IPI molecular function
GO:0043124 negative regulation of I-
kappaB kinase/NF-kappaB s
ignaling
 IDA biological process
GO:0043124 negative regulation of I-
kappaB kinase/NF-kappaB s
ignaling
 IDA biological process
GO:0043195 terminal bouton
 IEA cellular component
GO:0043204 perikaryon
 IEA cellular component
GO:0043234 protein complex
 IEA cellular component
GO:0043433 negative regulation of se
quence-specific DNA bindi
ng transcription factor a
ctivity
 IDA biological process
GO:0043523 regulation of neuron apop
totic process
 IEA biological process
GO:0043627 response to estrogen
 IDA biological process
GO:0045429 positive regulation of ni
tric oxide biosynthetic p
rocess
 IDA biological process
GO:0045742 positive regulation of ep
idermal growth factor rec
eptor signaling pathway
 IEA 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
 IDA biological process
GO:0046325 negative regulation of gl
ucose import
 IEA biological process
GO:0046697 decidualization
 IEA biological process
GO:0048146 positive regulation of fi
broblast proliferation
 IEA biological process
GO:0048471 perinuclear region of cyt
oplasm
 IEA cellular component
GO:0048662 negative regulation of sm
ooth muscle cell prolifer
ation
 IEA biological process
GO:0050679 positive regulation of ep
ithelial cell proliferati
on
 IEA biological process
GO:0051000 positive regulation of ni
tric-oxide synthase activ
ity
 IDA biological process
GO:0051091 positive regulation of se
quence-specific DNA bindi
ng transcription factor a
ctivity
 IDA biological process
GO:0051091 positive regulation of se
quence-specific DNA bindi
ng transcription factor a
ctivity
 IDA biological process
GO:0051117 ATPase binding
 IDA molecular function
GO:0060009 Sertoli cell development
 IEA biological process
GO:0060011 Sertoli cell proliferatio
n
 IEA biological process
GO:0060065 uterus development
 IEA biological process
GO:0060068 vagina development
 IEA biological process
GO:0060523 prostate epithelial cord
elongation
 IEA biological process
GO:0060527 prostate epithelial cord
arborization involved in
prostate glandular acinus
morphogenesis
 IEA biological process
GO:0060687 regulation of branching i
nvolved in prostate gland
morphogenesis
 IEA biological process
GO:0060745 mammary gland branching i
nvolved in pregnancy
 IEA biological process
GO:0060749 mammary gland alveolus de
velopment
 IEA biological process
GO:0060750 epithelial cell prolifera
tion involved in mammary
gland duct elongation
 IEA biological process
GO:0070374 positive regulation of ER
K1 and ERK2 cascade
 IEA biological process
GO:0071168 protein localization to c
hromatin
 IMP biological process
GO:0071392 cellular response to estr
adiol stimulus
 ISS biological process
GO:0071392 cellular response to estr
adiol stimulus
 IDA biological process
GO:0090209 negative regulation of tr
iglyceride metabolic proc
ess
 IEA biological process
GO:1901215 negative regulation of ne
uron death
 IEA biological process
GO:1903799 negative regulation of pr
oduction of miRNAs involv
ed in gene silencing by m
iRNA
 IMP biological process
GO:1990375 baculum development
 IEA biological process
GO:0000122 negative regulation of tr
anscription from RNA poly
merase II promoter
 IMP 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:0001046 core promoter sequence-sp
ecific DNA binding
 IEA molecular function
GO:0001046 core promoter sequence-sp
ecific DNA binding
 IDA molecular function
GO:0001077 transcriptional activator
activity, RNA polymerase
II core promoter proxima
l region sequence-specifi
c binding
 IDA molecular function
GO:0001223 transcription coactivator
binding
 IEA molecular function
GO:0001547 antral ovarian follicle g
rowth
 IEA biological process
GO:0002064 epithelial cell developme
nt
 IEA biological process
GO:0002076 osteoblast development
 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:0003682 chromatin binding
 IEA 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
 NAS molecular function
GO:0003707 steroid hormone receptor
activity
 IEA molecular function
GO:0003707 steroid hormone receptor
activity
 IEA molecular function
GO:0003707 steroid hormone receptor
activity
 TAS molecular function
GO:0004879 RNA polymerase II transcr
iption factor activity, l
igand-activated sequence-
specific DNA binding
 IEA molecular function
GO:0005496 steroid binding
 IEA molecular function
GO:0005496 steroid binding
 IEA molecular function
GO:0005496 steroid binding
 ISS molecular function
GO:0005496 steroid binding
 IEA 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: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
 IEA cellular component
GO:0005634 nucleus
 IDA 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:0005737 cytoplasm
 IEA cellular component
GO:0005737 cytoplasm
 IEA cellular component
GO:0005737 cytoplasm
 IEA cellular component
GO:0005737 cytoplasm
 IDA cellular component
GO:0005739 mitochondrion
 IEA cellular component
GO:0005794 Golgi apparatus
 IEA cellular component
GO:0005794 Golgi apparatus
 IEA cellular component
GO:0005886 plasma membrane
 IEA cellular component
GO:0005886 plasma membrane
 IEA cellular component
GO:0005886 plasma membrane
 IEA cellular component
GO:0005886 plasma membrane
 IDA cellular component
GO:0006338 chromatin remodeling
 NAS biological process
GO:0006351 transcription, DNA-templa
ted
 IEA biological process
GO:0006351 transcription, DNA-templa
ted
 TAS 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:0006355 regulation of transcripti
on, DNA-templated
 NAS biological process
GO:0006366 transcription from RNA po
lymerase II promoter
 IDA biological process
GO:0006367 transcription initiation
from RNA polymerase II pr
omoter
 TAS biological process
GO:0007165 signal transduction
 TAS biological process
GO:0007165 signal transduction
 TAS biological process
GO:0007200 phospholipase C-activatin
g G-protein coupled recep
tor signaling pathway
 ISS biological process
GO:0007204 positive regulation of cy
tosolic calcium ion conce
ntration
 ISS biological process
GO:0008013 beta-catenin binding
 IPI molecular function
GO:0008134 transcription factor bind
ing
 IEA molecular function
GO:0008134 transcription factor bind
ing
 IPI molecular function
GO:0008209 androgen metabolic proces
s
 IEA 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:0010629 negative regulation of ge
ne expression
 IDA biological process
GO:0010863 positive regulation of ph
ospholipase C activity
 ISS biological process
GO:0016020 membrane
 IEA cellular component
GO:0016020 membrane
 NAS cellular component
GO:0016021 integral component of mem
brane
 IEA cellular component
GO:0019899 enzyme binding
 IEA molecular function
GO:0019899 enzyme binding
 IPI molecular function
GO:0019899 enzyme binding
 IPI molecular function
GO:0030235 nitric-oxide synthase reg
ulator activity
 NAS molecular function
GO:0030284 estrogen receptor activit
y
 IEA molecular function
GO:0030284 estrogen receptor activit
y
 IEA molecular function
GO:0030284 estrogen receptor activit
y
 NAS molecular function
GO:0030315 T-tubule
 IEA cellular component
GO:0030518 intracellular steroid hor
mone receptor signaling p
athway
 IEA biological process
GO:0030518 intracellular steroid hor
mone receptor signaling p
athway
 ISS biological process
GO:0030520 intracellular estrogen re
ceptor signaling pathway
 NAS biological process
GO:0031798 type 1 metabotropic gluta
mate receptor binding
 IEA molecular function
GO:0032355 response to estradiol
 IEA biological process
GO:0032355 response to estradiol
 IDA biological process
GO:0032403 protein complex binding
 IEA molecular function
GO:0034056 estrogen response element
binding
 IDA molecular function
GO:0034056 estrogen response element
binding
 IDA molecular function
GO:0034056 estrogen response element
binding
 IDA molecular function
GO:0035327 transcriptionally active
chromatin
 IDA cellular component
GO:0036312 phosphatidylinositol 3-ki
nase regulatory subunit b
inding
 IEA molecular function
GO:0038052 RNA polymerase II transcr
iption factor activity, e
strogen-activated sequenc
e-specific DNA binding
 IDA molecular function
GO:0038052 RNA polymerase II transcr
iption factor activity, e
strogen-activated sequenc
e-specific DNA binding
 IGI molecular function
GO:0042562 hormone binding
 IEA molecular function
GO:0042802 identical protein binding
 IPI molecular function
GO:0042802 identical protein binding
 IPI molecular function
GO:0042802 identical protein binding
 IPI molecular function
GO:0042802 identical protein binding
 IPI molecular function
GO:0042981 regulation of apoptotic p
rocess
 IEA biological process
GO:0043005 neuron projection
 IEA cellular component
GO:0043124 negative regulation of I-
kappaB kinase/NF-kappaB s
ignaling
 IDA biological process
GO:0043124 negative regulation of I-
kappaB kinase/NF-kappaB s
ignaling
 IDA biological process
GO:0043195 terminal bouton
 IEA cellular component
GO:0043204 perikaryon
 IEA cellular component
GO:0043234 protein complex
 IEA cellular component
GO:0043401 steroid hormone mediated
signaling pathway
 IEA biological process
GO:0043433 negative regulation of se
quence-specific DNA bindi
ng transcription factor a
ctivity
 IDA biological process
GO:0043523 regulation of neuron apop
totic process
 IEA biological process
GO:0043565 sequence-specific DNA bin
ding
 IEA molecular function
GO:0043627 response to estrogen
 IDA biological process
GO:0045429 positive regulation of ni
tric oxide biosynthetic p
rocess
 IDA biological process
GO:0045742 positive regulation of ep
idermal growth factor rec
eptor signaling pathway
 IEA 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
 IEA 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
 IDA biological process
GO:0046325 negative regulation of gl
ucose import
 IEA biological process
GO:0046697 decidualization
 IEA biological process
GO:0046872 metal ion binding
 IEA molecular function
GO:0048146 positive regulation of fi
broblast proliferation
 IEA biological process
GO:0048471 perinuclear region of cyt
oplasm
 IEA cellular component
GO:0048662 negative regulation of sm
ooth muscle cell prolifer
ation
 IEA biological process
GO:0050679 positive regulation of ep
ithelial cell proliferati
on
 IEA biological process
GO:0051000 positive regulation of ni
tric-oxide synthase activ
ity
 IDA biological process
GO:0051091 positive regulation of se
quence-specific DNA bindi
ng transcription factor a
ctivity
 IDA biological process
GO:0051091 positive regulation of se
quence-specific DNA bindi
ng transcription factor a
ctivity
 IDA biological process
GO:0051117 ATPase binding
 IDA molecular function
GO:0060009 Sertoli cell development
 IEA biological process
GO:0060011 Sertoli cell proliferatio
n
 IEA biological process
GO:0060065 uterus development
 IEA biological process
GO:0060068 vagina development
 IEA biological process
GO:0060523 prostate epithelial cord
elongation
 IEA biological process
GO:0060527 prostate epithelial cord
arborization involved in
prostate glandular acinus
morphogenesis
 IEA biological process
GO:0060687 regulation of branching i
nvolved in prostate gland
morphogenesis
 IEA biological process
GO:0060745 mammary gland branching i
nvolved in pregnancy
 IEA biological process
GO:0060749 mammary gland alveolus de
velopment
 IEA biological process
GO:0060750 epithelial cell prolifera
tion involved in mammary
gland duct elongation
 IEA biological process
GO:0070374 positive regulation of ER
K1 and ERK2 cascade
 IEA biological process
GO:0071168 protein localization to c
hromatin
 IMP biological process
GO:0071391 cellular response to estr
ogen stimulus
 IEA biological process
GO:0071392 cellular response to estr
adiol stimulus
 ISS biological process
GO:0071392 cellular response to estr
adiol stimulus
 IDA biological process
GO:0090209 negative regulation of tr
iglyceride metabolic proc
ess
 IEA biological process
GO:1901215 negative regulation of ne
uron death
 IEA biological process
GO:1903799 negative regulation of pr
oduction of miRNAs involv
ed in gene silencing by m
iRNA
 IMP biological process
GO:1990375 baculum development
 IEA biological process
GO:0000122 negative regulation of tr
anscription from RNA poly
merase II promoter
 IMP 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:0001046 core promoter sequence-sp
ecific DNA binding
 IDA molecular function
GO:0001077 transcriptional activator
activity, RNA polymerase
II core promoter proxima
l region sequence-specifi
c binding
 IDA molecular function
GO:0003682 chromatin binding
 IDA molecular function
GO:0003700 transcription factor acti
vity, sequence-specific D
NA binding
 NAS molecular function
GO:0003707 steroid hormone receptor
activity
 TAS molecular function
GO:0005496 steroid binding
 ISS 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: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:0005634 nucleus
 IDA cellular component
GO:0005654 nucleoplasm
 TAS cellular component
GO:0005654 nucleoplasm
 TAS cellular component
GO:0005737 cytoplasm
 IDA cellular component
GO:0005886 plasma membrane
 IDA cellular component
GO:0006338 chromatin remodeling
 NAS biological process
GO:0006351 transcription, DNA-templa
ted
 TAS biological process
GO:0006355 regulation of transcripti
on, DNA-templated
 NAS biological process
GO:0006366 transcription from RNA po
lymerase II promoter
 IDA biological process
GO:0006367 transcription initiation
from RNA polymerase II pr
omoter
 TAS biological process
GO:0007165 signal transduction
 TAS biological process
GO:0007165 signal transduction
 TAS biological process
GO:0007200 phospholipase C-activatin
g G-protein coupled recep
tor signaling pathway
 ISS biological process
GO:0007204 positive regulation of cy
tosolic calcium ion conce
ntration
 ISS biological process
GO:0008013 beta-catenin binding
 IPI molecular function
GO:0008134 transcription factor bind
ing
 IPI molecular function
GO:0010629 negative regulation of ge
ne expression
 IDA biological process
GO:0010863 positive regulation of ph
ospholipase C activity
 ISS biological process
GO:0016020 membrane
 NAS cellular component
GO:0019899 enzyme binding
 IPI molecular function
GO:0019899 enzyme binding
 IPI molecular function
GO:0030235 nitric-oxide synthase reg
ulator activity
 NAS molecular function
GO:0030284 estrogen receptor activit
y
 NAS molecular function
GO:0030518 intracellular steroid hor
mone receptor signaling p
athway
 ISS biological process
GO:0030520 intracellular estrogen re
ceptor signaling pathway
 NAS biological process
GO:0032355 response to estradiol
 IDA biological process
GO:0034056 estrogen response element
binding
 IDA molecular function
GO:0034056 estrogen response element
binding
 IDA molecular function
GO:0034056 estrogen response element
binding
 IDA molecular function
GO:0035327 transcriptionally active
chromatin
 IDA cellular component
GO:0038052 RNA polymerase II transcr
iption factor activity, e
strogen-activated sequenc
e-specific DNA binding
 IDA molecular function
GO:0038052 RNA polymerase II transcr
iption factor activity, e
strogen-activated sequenc
e-specific DNA binding
 IGI molecular function
GO:0042802 identical protein binding
 IPI molecular function
GO:0042802 identical protein binding
 IPI molecular function
GO:0042802 identical protein binding
 IPI molecular function
GO:0042802 identical protein binding
 IPI molecular function
GO:0043124 negative regulation of I-
kappaB kinase/NF-kappaB s
ignaling
 IDA biological process
GO:0043124 negative regulation of I-
kappaB kinase/NF-kappaB s
ignaling
 IDA biological process
GO:0043433 negative regulation of se
quence-specific DNA bindi
ng transcription factor a
ctivity
 IDA biological process
GO:0043627 response to estrogen
 IDA biological process
GO:0045429 positive regulation of ni
tric oxide biosynthetic p
rocess
 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
 IDA biological process
GO:0051000 positive regulation of ni
tric-oxide synthase activ
ity
 IDA biological process
GO:0051091 positive regulation of se
quence-specific DNA bindi
ng transcription factor a
ctivity
 IDA biological process
GO:0051091 positive regulation of se
quence-specific DNA bindi
ng transcription factor a
ctivity
 IDA biological process
GO:0051117 ATPase binding
 IDA molecular function
GO:0071168 protein localization to c
hromatin
 IMP biological process
GO:0071392 cellular response to estr
adiol stimulus
 ISS biological process
GO:0071392 cellular response to estr
adiol stimulus
 IDA biological process
GO:1903799 negative regulation of pr
oduction of miRNAs involv
ed in gene silencing by m
iRNA
 IMP biological process
GO:0000790 nuclear chromatin
 IDA cellular component
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0045944 positive regulation of tr
anscription by RNA polyme
rase II
 IDA biological process
GO:0001228 DNA-binding transcription
activator activity, RNA
polymerase II-specific
 IDA molecular function
GO:0000978 RNA polymerase II cis-reg
ulatory region sequence-s
pecific DNA binding
 IDA molecular function
GO:0045944 positive regulation of tr
anscription by RNA polyme
rase II
 IDA biological process
GO:0000790 nuclear chromatin
 ISA cellular component
GO:0000981 DNA-binding transcription
factor activity, RNA pol
ymerase II-specific
 ISM molecular function
GO:0000981 DNA-binding transcription
factor activity, RNA pol
ymerase II-specific
 ISA molecular function
GO:0003682 chromatin binding
 IDA molecular function
GO:0035327 transcriptionally active
chromatin
 IDA cellular component
GO:0045893 positive regulation of tr
anscription, DNA-template
d
 IDA biological process
GO:0005634 nucleus
 IDA cellular component
GO:0005737 cytoplasm
 IDA cellular component
GO:0005634 nucleus
 IDA cellular component
GO:0043627 response to estrogen
 IDA biological process
GO:0043433 negative regulation of DN
A-binding transcription f
actor activity
 IDA biological process
GO:0043124 negative regulation of I-
kappaB kinase/NF-kappaB s
ignaling
 IDA biological process
GO:0043124 negative regulation of I-
kappaB kinase/NF-kappaB s
ignaling
 IDA biological process
GO:0051091 positive regulation of DN
A-binding transcription f
actor activity
 IDA biological process
GO:0051091 positive regulation of DN
A-binding transcription f
actor activity
 IDA biological process
GO:0071392 cellular response to estr
adiol stimulus
 ISS biological process
GO:0030518 intracellular steroid hor
mone receptor signaling p
athway
 ISS biological process
GO:0010863 positive regulation of ph
ospholipase C activity
 ISS biological process
GO:0007200 phospholipase C-activatin
g G protein-coupled recep
tor signaling pathway
 ISS biological process
GO:0005515 protein binding
 IPI molecular function
GO:0008134 transcription factor bind
ing
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0001223 transcription coactivator
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:0019901 protein kinase binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0019899 enzyme binding
 IPI molecular function
GO:0007204 positive regulation of cy
tosolic calcium ion conce
ntration
 ISS biological process
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:0005496 steroid binding
 ISS molecular function
GO:0003700 DNA-binding transcription
factor activity
 IEA molecular function
GO:0003707 steroid hormone receptor
activity
 IEA molecular function
GO:0008270 zinc ion binding
 IEA molecular function
GO:0042025 host cell nucleus
 IEA cellular component
GO:0043401 steroid hormone mediated
signaling pathway
 IEA biological process
GO:0043565 sequence-specific DNA bin
ding
 IEA molecular function
GO:0003677 DNA binding
 IEA molecular function
GO:0005496 steroid binding
 IEA molecular function
GO:0005634 nucleus
 IEA cellular component
GO:0006355 regulation of transcripti
on, DNA-templated
 IEA biological process
GO:0030284 estrogen receptor activit
y
 IEA molecular function
GO:0046872 metal ion binding
 IEA molecular function
GO:0005794 Golgi apparatus
 IEA cellular component
GO:0008289 lipid binding
 IEA molecular function
GO:0003677 DNA binding
 IEA molecular function
GO:0016020 membrane
 IEA cellular component
GO:0005634 nucleus
 IEA cellular component
GO:0005737 cytoplasm
 IEA cellular component
GO:0005496 steroid binding
 IEA molecular function
GO:0005886 plasma membrane
 IEA cellular component
GO:0016021 integral component of mem
brane
 IEA cellular component
GO:0007165 signal transduction
 TAS biological process
GO:0007165 signal transduction
 TAS biological process
GO:0051117 ATPase binding
 IDA molecular function
GO:0045944 positive regulation of tr
anscription by RNA polyme
rase II
 IDA biological process
GO:0004879 nuclear receptor activity
 IGI molecular function
GO:0016579 protein deubiquitination
 TAS biological process
GO:0030111 regulation of Wnt signali
ng pathway
 TAS biological process
GO:0051897 positive regulation of pr
otein kinase B signaling
 TAS biological process
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: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: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: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: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:0005829 cytosol
 TAS cellular component
GO:0005829 cytosol
 TAS cellular component
GO:0006357 regulation of transcripti
on by RNA polymerase II
 TAS biological process
GO:0006367 transcription initiation
from RNA polymerase II pr
omoter
 TAS biological process
GO:0033146 regulation of intracellul
ar estrogen receptor sign
aling pathway
 TAS biological process
GO:0042802 identical protein binding
 IPI molecular function
GO:0042802 identical protein binding
 IPI molecular function
GO:0042802 identical protein binding
 IPI molecular function
GO:0042802 identical protein binding
 IPI molecular function
GO:0042802 identical 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: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:0071392 cellular response to estr
adiol stimulus
 IEA biological process
GO:0060750 epithelial cell prolifera
tion involved in mammary
gland duct elongation
 IEA biological process
GO:0060687 regulation of branching i
nvolved in prostate gland
morphogenesis
 IEA biological process
GO:0060523 prostate epithelial cord
elongation
 IEA biological process
GO:0050727 regulation of inflammator
y response
 IEA biological process
GO:0048863 stem cell differentiation
 IEA biological process
GO:0043565 sequence-specific DNA bin
ding
 IEA molecular function
GO:0004879 nuclear receptor activity
 IEA molecular function
GO:0003682 chromatin binding
 IEA molecular function
GO:0001547 antral ovarian follicle g
rowth
 IEA biological process
GO:0071391 cellular response to estr
ogen stimulus
 IEA biological process
GO:0060749 mammary gland alveolus de
velopment
 IEA biological process
GO:0060745 mammary gland branching i
nvolved in pregnancy
 IEA biological process
GO:0060527 prostate epithelial cord
arborization involved in
prostate glandular acinus
morphogenesis
 IEA biological process
GO:0060068 vagina development
 IEA biological process
GO:0060065 uterus development
 IEA biological process
GO:0048146 positive regulation of fi
broblast proliferation
 IEA biological process
GO:0045944 positive regulation of tr
anscription by RNA polyme
rase II
 IEA biological process
GO:0042981 regulation of apoptotic p
rocess
 IEA biological process
GO:0034121 regulation of toll-like r
eceptor signaling pathway
 IEA biological process
GO:0008584 male gonad development
 IEA biological process
GO:0008209 androgen metabolic proces
s
 IEA biological process
GO:0008134 transcription factor bind
ing
 IEA molecular function
GO:0006355 regulation of transcripti
on, DNA-templated
 IEA biological process
GO:0005737 cytoplasm
 IEA cellular component
GO:0005634 nucleus
 IEA cellular component
GO:0002064 epithelial cell developme
nt
 IEA biological process
GO:0004879 nuclear receptor activity
 IDA molecular function
GO:0034056 estrogen response element
binding
 IDA molecular function
GO:0045944 positive regulation of tr
anscription by RNA polyme
rase II
 IDA biological process
GO:0000790 nuclear chromatin
 IDA cellular component
GO:0071392 cellular response to estr
adiol stimulus
 IDA biological process
GO:0003700 DNA-binding transcription
factor activity
 NAS molecular function
GO:0008013 beta-catenin 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:0030284 estrogen receptor activit
y
 IDA molecular function
GO:0032355 response to estradiol
 IDA biological process
GO:0000790 nuclear chromatin
 IDA cellular component
GO:1903799 negative regulation of pr
oduction of miRNAs involv
ed in gene silencing by m
iRNA
 IMP biological process
GO:0000122 negative regulation of tr
anscription by RNA polyme
rase II
 IMP biological process
GO:0071168 protein localization to c
hromatin
 IMP biological process
GO:0005794 Golgi apparatus
 IEA cellular component
GO:0005737 cytoplasm
 IEA cellular component
GO:0005634 nucleus
 IEA cellular component
GO:0005886 plasma membrane
 IEA cellular component
GO:0001093 TFIIB-class transcription
factor binding
 IPI molecular function
GO:0032991 protein-containing comple
x
 IMP cellular component
GO:0005634 nucleus
 IDA cellular component
GO:0017025 TBP-class protein binding
 IPI molecular function
GO:0045893 positive regulation of tr
anscription, DNA-template
d
 IDA biological process
GO:0045899 positive regulation of RN
A polymerase II transcrip
tion preinitiation comple
x assembly
 IDA biological process
GO:0097550 transcription preinitiati
on complex
 IDA cellular component
GO:0030520 intracellular estrogen re
ceptor signaling pathway
 IDA biological process
GO:0030331 estrogen receptor binding
 IPI molecular function
GO:0034056 estrogen response element
binding
 IDA molecular function
GO:0030284 estrogen receptor activit
y
 IDA molecular function
GO:0045944 positive regulation of tr
anscription by RNA polyme
rase II
 IDA biological process
GO:0034056 estrogen response element
binding
 IDA molecular function
GO:0034056 estrogen response element
binding
 IDA molecular function
GO:0005886 plasma membrane
 IDA cellular component
GO:0005634 nucleus
 IDA cellular component
GO:0000978 RNA polymerase II cis-reg
ulatory region sequence-s
pecific DNA binding
 IDA molecular function
GO:0010629 negative regulation of ge
ne expression
 IDA biological process
GO:0005634 nucleus
 IDA cellular component
GO:0032991 protein-containing comple
x
 IDA cellular component
GO:0003682 chromatin binding
 IDA molecular function
GO:0019899 enzyme binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0030284 estrogen receptor activit
y
 NAS molecular function
GO:0016020 membrane
 NAS cellular component
GO:0006338 chromatin remodeling
 NAS biological process
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:0030284 estrogen receptor activit
y
 TAS molecular function
GO:0030235 nitric-oxide synthase reg
ulator activity
 NAS molecular function
GO:0030520 intracellular estrogen re
ceptor signaling pathway
 NAS biological process
GO:0006355 regulation of transcripti
on, DNA-templated
 NAS biological process
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

KEGG pathways

Expand All | Collapse All

Pathway idPathway name
hsa05200Pathways in cancer
hsa05205Proteoglycans in cancer
hsa05224Breast cancer
hsa04919Thyroid hormone signaling pathway
hsa04915Estrogen signaling pathway
hsa01522Endocrine resistance
hsa04917Prolactin signaling pathway
hsa04961Endocrine and other factor-regulated calcium reabsorption
hsa04915Estrogen signaling pathway
hsa04917Prolactin signaling pathway
hsa04919Thyroid hormone signaling pathway
hsa04961Endocrine and other factor-regulated calcium reabsorption
hsa05200Pathways in cancer
hsa05205Proteoglycans in cancer
hsa05224Breast cancer
hsa01522Endocrine resistance

Diseases

Expand All | Collapse All
Associated diseases References
Cancer (testicular germ cell) MIK: 22245602
Cancer GAD: 18942332
Cancer (bladder) GAD: 19692168
Cancer (colon) GAD: 18992263
Cancer (colorectal) GAD: 16202920
Cancer (endometrial) GAD: 12962933
Cancer (epithelial ovarian) GAD: 19064572
Cancer (esophageal) GAD: 20453000
Cancer (glaucoma) GAD: 18195227
Cancer (Hepatocellular) GAD: 16762623
Cancer (leiomyoma) GAD: 11239543
Cancer (leukemia) GAD: 20015871
Cancer (lung) GAD: 18676680
Cancer (lymphoma) GAD: 18636124
Cancer (ovarian) GAD: 16176503
Cancer (prostate) GAD: 15330195
Cancer (Renal cell) GAD: 12207901
Cancer (testicular) GAD: 19776291
Cancer (thyroid) GAD: 19519176
Cancer (uterine leiomyoma) GAD: 16595228
Cancer (uterine) GAD: 12552233
Cancer (breast) GAD: 12712467
Aortic aneurysm GAD: 15698546
Aortic valve sclerosis GAD: 12859695
Apoplexy GAD: 20153472
Atherosclerosis GAD: 12568733
Atrial fibrillation GAD: 19860128
Myocardial Infarction GAD: 133430
Atherosclerosis OMIM: 133430
Cardiovascular disease GAD: 16332659
Carotid artery diseases GAD: 19233358
Cerebral infarction GAD: 12509901
Hypertension GAD: 15167446
Peripheral vascular disease GAD: 19194457
Venous thrombosis GAD: 16461324
Cleft defects GAD: 20634891
Graves disease GAD: 11887032
Dry eye syndrome GAD: 17378156
Macular degeneration GAD: 17325140
Retinopathy GAD: 18568888
Beta-thalassemia GAD: 16273733
Arthritis GAD: 12154211
Asthma GAD: 19247692
Rheumatoid arthritis GAD: 10343533
Multiple sclerosis GAD: 12098649
Scleroderma GAD: 19032828
Systemic lupus erythematosus (SLE) GAD: 19399944
Metabolic syndrome GAD: 19032032
Obesity GAD: 17016614
Cholelithiasis GAD: 12206920
Diabetes GAD: 18367190
Bone diseases GAD: 15781005
Scoliosis GAD: 19080622
Osteoarthritis GAD: 16098017
Knee osteoarthritis GAD: 19934104
Osteonecrosis GAD: 18285546
Osteoporosis GAD: 16417078
Spondylosis GAD: 16362385
Degenerative arthropathy GAD: 20237151
Temporomandibular Joint Disorders GAD: 19411060
Migraine disorder GAD: 19093296
Stroke GAD: 18309176
Alzheimer's disease GAD: 19586561
Parkinson disease GAD: 12174171
Anorexia nervosa GAD: 11803451
Attention deficit disorder conduct disorder GAD: 11140838
Autism GAD: 19598235
Bipolar disorder GAD: 11121195
Major depressive disorder GAD: 12605096
Mood disorders GAD: 18449864
Psychological disorders GAD: 19086053
Schizophrenia GAD: 18424448
Several psychiatric disorders GAD: 19086053
Dementia GAD: 12852830
Kidney diseases GAD: 19578796
Chronic kidney failure GAD: 19578796
Chronic renal failure GAD: 21085059
Abortion GAD: 20716560
Endometriosis GAD: 16260521
Hypomenorrhea GAD: 18390216
Semen quality GAD: 19959825
Preeclampsia GAD: 15120696
Recurrent pregnancy loss (RPL) GAD: 11383910
Premature ovarian failure (POF) GAD: 19861327
Premature ovarian failure (POF) GAD: 20797716
Premenstrual dysphoric disorder GAD: 17599809
Ovulatory disorders GAD: 11231990
Adenomyosis INFBASE: 15475371
Menstrual disorders INFBASE: 17505942
Endometrial hyperplasia INFBASE: 23690166
Rectosigmoid endometriosis INFBASE: 25217304
Endometriosis INFBASE: 16169423
Luteal phase defect INFBASE: 9160186
Precocious puberty INFBASE: 23559367
Fertility defects INFBASE: 20819792
Miscarriage INFBASE: 19152063
Ovarian dysfunction INFBASE: 21269613
Polycystic ovary syndrome (PCOS) INFBASE: 21150157
Ovarian endometriomata INFBASE: 10421802
Ovarian endometriosis INFBASE: 23006437
Premature ovarian failure (POF) INFBASE: 25585503
Unexplained infertility INFBASE: 21842124
Uterine receptivity INFBASE: 17118173
Impaired human spermatogenesis INFBASE: 21505981
Azoospermia MIK: 21430602
Oligoasthenoteratozoospermia MIK: 23822672
Male factor infertility MIK: 17283037
Hypospadias MIK: 21934279
Sperm concentration and motility MIK: 21429951
Male factor infertility MIK: 7720943
Nonsyndromic cryptorchidism MIK: 20887985
Spermatogenesis defects MIK: 21429951
Maturation arrest MIK: 18835831
Varicocele MIK: 21344398
Spermatogenesis defects MIK: 21351528
Sertoli cell only syndrome (SCOS) MIK: 19886769
Spermatogenesis defects MIK: 18980759
Maturation arrest MIK: 18835831
Oligozoospermia MIK: 16213843
Chorioamnionitis GAD: 20452482
Controlled ovarian hyperstimulation INFBASE: 17540666
Cryptorchidism MIK: 15899960
Defective uterine receptivity INFBASE: 17118173
Diminished ovarian reserve (DOR) INFBASE: 23522078
Endometriosis GAD: 11139535
Endometriosis-associated infertility INFBASE: 24427778
Female infertility INFBASE: 20979911
Human spermatogenic defect GAD: 18980759
Azoospermia MIK: 12477541
Impaired endometrial receptivity INFBASE: 20193421
Hypospermatogenesis MIK: 19886769
Chronic obstructive pulmonary disease (COPD) GAD: 19625176
Vitiligo GAD: 21085187
Varicose ulcer GAD: 16153823
Chronic periodontitis GAD: 18846948
Trigeminal neuralgia GAD: 16430179
Hypertrophy GAD: 16492615
Itai-itai disease GAD: 10650924
Spinal ossification GAD: 12195069
Urolithiasis GAD: 11564035
Breast cancer KEGG:H00031
Estrogen resistance syndrome KEGG:H02061
Breast cancer KEGG:H00031
Estrogen resistance syndrome KEGG:H02061
Prostate cancer PMID:17908481
Prostate cancer PMID:17922863
Prostate cancer PMID:18006911
Alzheimer's disease PMID:10558867
Osteoporosis PMID:10773580
Osteoporosis PMID:17953702
Vitiligo PMID:15381239
Breast cancer PMID:19011961
Breast cancer PMID:19320640
Breast cancer PMID:15604249
Breast cancer PMID:19636371
Breast cancer PMID:17553133
Melanoma PMID:19153340
Arteriosclerosis PMID:17903303
Leydig cell tumor PMID:17656605
Endometriosis PMID:16500359
Lymphangioleiomyomatosis PMID:18285421
Coronary artery disease PMID:16159931
Breast carcinoma PMID:18234277
Breast carcinoma PMID:15355923
lung non-small cell carcinoma PMID:19506903
systemic scleroderma PMID:19032828
macular degeneration PMID:17325140
Pulmonary hypertension PMID:20081107
sporadic breast cancer PMID:17932744
Osteoarthritis PMID:20417295
in situ carcinoma PMID:17924141
type 2 diabetes mellitus PMID:18854778
type 2 diabetes mellitus PMID:17097034
Aberrant CpGs in Low Motility Sperm MIK: 21674046
Sertoli cell-only syndrome MIK: 19886769
Hypospermatogenesis MIK: 19886769
Azoospermia MIK: 21430602
Cancer MIK: 21430602
Oligozoospermia MIK: 12031042
Cryptorchidism MIK: 15899960
Male infertility MIK: 17099213
Essential for maintanence of male infertility MIK: 20833731
Female infertility MIK: 7720943
Cryptorchidism MIK: 21934279
Hypospadias MIK: 20215396
Idiopathic azoospermia MIK: 12477541
Immature spermatozoa with excess residual cytoplasm MIK: 16846491
Spermatogenic defects MIK: 8895349
Male genital and reproductive abnormalities MIK: 17283037
Male infertility MIK: 9459087
Obstructive azoospermia MIK: 18835831
Maturation arrest MIK: 18835831
Sertoli cell-only syndrome(SCOS) MIK: 18835831
Varicocele MIK: 21344398
Oligoasthenoteratozoospermia MIK: 23822672
Premature ovarian failure (POF) MIK: 25428437
Semen quality MIK: 19959825
Sperm concentration MIK: 21429951
Sperm motility MIK: 21429951
Teratozoospermia MIK: 17327269
Testicular germ cell cancer MIK: 22245602

PubMed references

Expand All | Collapse All
PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
23913373 Spermatoge
nic defect
s
 ER? gene gene and PvuII and XbaI polymorphisms and the ER? gene and RsaI and AluI polymorphisms Chinese
 456 (204 men wi
th oligozoosper
mia (sperm coun
t <20 x 10(6)/m
L) or azoosperm
ia and 252 fert
ile control men
)
 Male infertility ESR1
ESR2
 Show abstract
23822672 Oligoasthe
noteratozo
ospermia
 ER-? gene PvuII and XbaI polymorphisms
141 (60 fertile
men, 81oligoas
thenoteratozoos
permic (OAT) me
n )
 Male infertility ER-?
 Show abstract
22245602 Testicular
 germ cell
 cancer
 ESR2 (rs1256063), LHCGR (rs4597581, rs4953617, rs7371084), ESR1 (rs9397080)
581 (367 patien
ts and 214 cont
rols)
 Male infertility ESR1
ESR2
LHCGR
 Show abstract
21934279 Hypospadia
c or crypt
orchid pat
ients
 SNP12 in ER ? gene Northwe
stern C
hina
 143 (103 patien
ts and 40 contr
ols)
 Male infertility
Show abstract
21823190 Male infer
tility
  ER? (PvuII and XbaI) and ER? (AluI and RsaI) gene polymorphisms Brazili
an
 403 (187 idiopa
thic, infertile
(78 nonobstruct
ive azoospermia
, 109 severe ol
igozoospermia),
216 fertile me
n)
 Male infertility ESR1
ESR2
 Show abstract
21430602 Azoospermi
a
 rs2207396, rs9340958, rs9340978
127 adult child
hood cancer sur
vivors
 Male infertility ESR1
ESR2
 Show abstract
20887985 Nonsyndrom
ic cryptor
chidism
 Spanish
, Itali
an
 1113 (569 Spani
sh (180 nonsyn
dromic cryptorc
hism, 389 were
controls), (193
cryptorchid pa
tients, 351 con
trols))
 Male infertility
Show abstract
20599614 Male infer
tility
 ER-? Pvull TT, ER-? XbaI AA, ER-? RsaI AG, and ER-? Alul AG genotypes Iranian
 328 (164 infert
ile men and 164
age-matched he
althy controls)
 Male infertility ESR1
ESR2
 Show abstract
20215396 Hypospadia
s
 SRD5A2 (rs523349), ESR1 (rs6932902), ESR2 (rs2987983), ATF3 (rs11119982) Caucasi
an
 1216 (620 Cauca
sian hypospadia
s cases and 596
controls)
 Male infertility SRD5A2
 ESR1
ESR2
ATF3
Show abstract
18452179 Cryptorchi
dism
  SNP12 (rs6932902) in ESR1 Caucasi
an, Afr
ican Am
erican,
and As
ian Ame
rican
 312 (152 nonsyn
dromic cryptorc
hidism cases, 1
60 healthy cont
rols)
 Male infertility
Show abstract
17099213 Cryptorchi
dism, Male
infertili
ty
  AGATA haplotype and SNP12 Caucasi
an popu
lations
 902 (335 patien
ts, 567 control
s)
 Male infertility
Show abstract
16846491 Spermatoge
nic defect
s
20 (10 asthenoz
oospermia patie
nts, 10 fertile
donors)
 Male infertility ESR1
ESR2
 Show abstract
17283037 Male genit
al and rep
roductive 
abnormalit
ies
 ESR1 ('AGATA' haplotype ) Japanes
e
 328 (70 patient
s with micropen
is (MP), 43 pat
ients with hypo
spadias (HS), 8
0 patients with
spermatogenic
failure (SF) an
d 135 control m
ales)
 Male infertility
Show abstract
16396937 Male infer
tility
 (TA)n repeat polymorphism
347 (infertile
and normospermi
c men)
 Male infertility
Show abstract
16213843 Azoospermi
a, Oligozo
ospermia
 ESR1 g.938T>C, FSHR Ser680Asn, ESR2 *39A>G, CYP19A1 *19C>T, and NRIP1 Gly75Gly polymorphism Spanish
 199 (104 men wi
th azoospermia
or severe oligo
zoospermia, 95
healthy control
s)
 Male infertility ESR1
FSHR
ESR2
CYP19A1
NRIP1
 Show abstract
15899960 Cryptorchi
dism
 rs9340799, rs1643821, rs11155819, rs48700062, rs1801132, rs1884052, rs3020328, rs6905370, rs13203975, rs926779, rs3020364, rs6932902, rs3020371, rs3020375, rs2228480,
110 (63 cryptor
chid male, 47 c
ontrol males)
 Male infertility
Show abstract
7720943 Female inf
ertility
29 infertile pa
tients
 Male infertility
Show abstract
21351528 Male infer
tility, Sp
ermatogeni
c arrest
130 (120 infert
ile men, 10 hea
lthy controls)
 Male infertility
Show abstract
12031042 Azoospermi
a, Oligozo
ospermia
 CAG repeat length Greek
 173 (109 infert
ile patients (2
9 with idiopath
ic moderate oli
gospermia, 42 w
ith azoospermia
or idiopathic
severe oligospe
rmia, 38 with a
zoospermia or o
ligospermia), 6
4 controls)
 Male infertility
Show abstract
19959825 Semen qual
ity, Male
infertilit
y
 ER alpha (397T/C, 397C/C, 351A/A, 351A/G and 351 G/G), ER beta (1082G-->A and 1730A-->G)
114 (85 men had
normal sperm c
ount, 29 were o
ligozoospermic)
 Male infertility ER alpha
ER beta
 Show abstract
16213843 Azoospermi
a, oligosp
ermia
 ESR1 g.938T>C, FSHR Ser680Asn, ESR2 *39A>G, CYP19A1 *19C>T, and NRIP1 Gly75Gly Spanish
 199 (104 men wi
th azoospermia
or severe oligo
zoospermia, 95
race-matched he
althy controls)
 Male infertility ESR1
FSHR
ESR2
CYP19A1
and NRIP1
 Show abstract
16213843 Male idiop
athic infe
rtility
 ESR1 g.938T>C, FSHR Ser680Asn, ESR2 *39A>G, CYP19A1*19C>T, and NRIP1 Gly75Gly polymorphism Spanish
 199 (104 with a
zoospermia or s
evere oligozoos
permia, 95 unse
lected race-mat
ched healthy co
ntrols)
 Male infertility ESR1
FSHR
ESR2
 CYP19A1
and NRIP1
 Show abstract
25128001 Male infer
tility
 rs2234693, rs9340799, rs1256049 and rs4986938 Asian,
Caucasi
an
Male infertility
Show abstract
24647635 Male infer
tility
 ESR1 PvuII and ESR2 RsaI polymorphisms Caucasi
an
Male infertility ESR1
ESR2
 Show abstract
23913373 Spermatoge
nic defect
s
 ER? gene gene and PvuII and XbaI polymorphisms, ER? gene and RsaI and AluI polymorphisms Chinese
 456 (204 men wi
th oligozoosper
mia or azoosper
mia, 252 fertil
e control men)
 Male infertility Er?
ER?
 Show abstract
19886769 Azoopsermi
a, Sertoli
cell-only
syndrome,
hyposperm
atogenesis
10 men undergoi
ng testicular b
iopsy for infer
tility 
 Male infertility Eralpha
ERbeta
 Show abstract
21429951 Sperm conc
entration
and motili
ty
 rs1801132 and rs2228480 of the ER-? gene, rs1256049 and rs4986938 of the ER-? gene, rs605059 of the HSD17B1 gene, rs1799941 of the SHBG gene and rs1048943 and rs4646903 of the CYP1A1 gene
677 (210 fertil
e men, 467 infe
rtile men)
 Male infertility CYP19A1
HSD17B1
CYP1A1
CYP1B1
COMT
GSTM1
GSTT1
 Show abstract
21344398 Oligoasten
oteratozoo
spermic (O
AT), varic
ocele

Male infertility Er?
ER?
 Show abstract
18835831 Obstructiv
e azoosper
mia (OA),
maturation
arrest (M
A), and Se
rtoli cell
-only (SCO
)
28 (10 patients
with OA, 10 pa
tients with MA
(either early o
r late arrest),
and 8 patients
with SCO)
 Male infertility Eralpha
PR
 Show abstract
18980759 Oligozoosp
ermia, azo
ospermia,
impaired s
permatogen
esis
 (rs180113 of ER-alpha gene, rs1256049 of ER-beta gene, rs1048943 of CYP1A1 gene, rs8191246 of HSD17B2 gene, and rs1799941 along with rs6259 of SHBG gene Taiwane
se Han
 303 (183 oligoz
oospermatic (sp
erm count <20 x
10(6)/mL) or a
zoospermatic ma
les, 120 fertil
e control males
)
 Male infertility ER-alpha
ER-beta
CYP17
CYP19A1
HSD17B2
CYP1A1
CYP1B1
COMT
SHBG
 Show abstract
25428437 Premature
ovarian fa
ilure (POF
)
 ESR1 polymorphisms (intron 1 polymorphisms PvuII-rs2234693: T.C and XbaI-rs9340799: A.G) Europea
n, Asia
n
 1396 cases
 Male infertility
Show abstract
18424506 Male infer
tility
 ESR1 AGATA marker rs3020375 Spanisj
 2856 (229 famil
y units achievi
ng pregnancy th
rough assisted
reproductive te
chnologies (n =
129) or by nat
ural means (n =
100), 2465 pop
ulation control
s, 162 men wit
h idiopathic in
fertility)
 Male infertility ESR1
 Show abstract
12477541 Idiopathic
azoosperm
ia

Male infertility ERalpha
 Show abstract
9459087 Male infer
tility
20 (8 cases of
fertile couples
, 12 cases of i
nfertile cases
( 3 with normoz
oospermia, 2 wi
th oligozoosper
mia, 1 with ast
henozoospermia,
and 2 with ter
atozoospermia,
1 with normozoo
spermia, 1 with
asthenozoosper
mia, and 2 with
oligoasthenozo
ospermia ))
 Male infertility ER
PR
 Show abstract
20833731 Essential
for mainta
nence of m
ale infert
ility

Male infertility
Show abstract
18755802 Male infer
tility

Male infertility
Show abstract
8895349 Leads to r
educed mat
ing freque
ncy, low s
perm numbe
rs, altera
tion of sp
ermatogene
sis and de
fective sp
erm functi
on

Male infertility
Show abstract
17327269 Teratozoos
permia
13 (5 controls,
8 cases)
 Male infertility GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
 Show abstract
21674046 Aberrant C
pGs in Low
Motility
Sperm
18
 Male infertility GSE26881
 Show abstract