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

Gene Summary

Gene Symbol ESR1   Gene   UCSC   Ensembl
Aliases ER, ESR, ESRA, ESTRR, Era, NR3A1
Gene name estrogen receptor 1
Alternate names estrogen receptor, 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,
Gene location 6q25.1-q25.2 (151654147: 152103273)     Exons: 22     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 a heterodimer with estrogen receptor 2. Estrogen and its receptors are essential for sexual development and reproductive function, but also play a role in other tissues such as bone. Estrogen receptors are also involved in pathological processes including breast cancer, endometrial cancer, and osteoporosis. Alternative promoter usage and alternative splicing result in dozens of transcript variants, but the full-length nature of many of these variants has not been determined. [provided by RefSeq, Mar 2014]
OMIM 133430

SNPs

rs17847065

Strand:    Allele origin:   Allele change: A/C/T   Mutation type: snp

CM000668.2   g.151808349C>A
CM000668.2   g.151808349C>T
NC_000006.11   g.152129484C>A
NC_000006.11   g.152129484C>T
NC_000006.12   g.151808349C>A
NC_000006.12   g.151808349C>T
NG_008493.2   g.156659C>A
NG_008493.2   g.156659C>T
NM_000125.3   c.437C>A
NM_000125.3   c.437C>T
NM_001122740.1   c.437C>A
NM_001122740.1   c.437C>T
NM_001122741.1   c.437C>A
NM_001122741.1   c.437C>T
NM_001122742.1   c.437C>A
NM_001122742.1   c.437C>T
NM_001291230.1   c.437C>A
NM_001291230.1   c.437C>T
NM_001291241.1   c.437C>A
NM_001291241.1   c.437C>T
NM_001328100.1   c.-990C>A
NM_001328100.1   c.-990C>T
NP_000116.2   p.Pro146Gln
NP_000116.2   p.Pro146Leu
NP_001116212.1   p.Pro146Gln
NP_001116212.1   p.Pro146Leu
NP_001116213.1   p.Pro146Gln
NP_001116213.1   p.Pro146Leu
NP_001116214.1   p.Pro146Gln
NP_001116214.1   p.Pro146Leu
NP_001278159.1   p.Pro146Gln
NP_001278159.1   p.Pro146Leu
NP_001278170.1   p.Pro146Gln
NP_001278170.1   p.Pro146Leu
XP_005266913.1   p.Pro146Gln
XP_005266913.1   p.Pro146Leu
XP_005266914.1   p.Pro146Gln
XP_005266914.1   p.Pro146Leu
XP_006715437.1   p.Pro146Gln
XP_006715437.1   p.Pro146Leu
XP_011533845.1   p.Pro146Gln
XP_011533845.1   p.Pro146Leu
XP_011533846.1   p.Pro146Gln
XP_011533846.1   p.Pro146Leu
XP_011533847.1   p.Pro146Gln
XP_011533847.1   p.Pro146Leu
XP_011533849.1   p.Pro146Gln
XP_011533849.1   p.Pro146Leu
XP_016865865.1   p.Pro146Gln
XP_016865865.1   p.Pro146Leu
XP_016865866.1   p.Pro146Gln
XP_016865866.1   p.Pro146Leu
XP_016865867.1   p.Pro146Gln
XP_016865867.1   p.Pro146Leu
XP_016865868.1   p.Pro146Gln
XP_016865868.1   p.Pro146Leu
XP_016865869.1   p.Pro146Gln
XP_016865869.1   p.Pro146Leu
XP_016865870.1   p.Pro146Gln
XP_016865870.1   p.Pro146Leu
XR_001743222.1   n.807C>A
XR_001743222.1   n.807C>T
XR_001743223.1   n.807C>A
XR_001743223.1   n.807C>T
rs17847076

Strand:    Allele origin:   Allele change: A/T   Mutation type: snp

CM000668.2   g.151842646A>T
NC_000006.11   g.152163781A>T
NC_000006.12   g.151842646A>T
NG_008493.2   g.190956A>T
NM_000125.3   c.502A>T
NM_001122740.1   c.502A>T
NM_001122741.1   c.502A>T
NM_001122742.1   c.502A>T
NM_001291230.1   c.502A>T
NM_001291241.1   c.502A>T
NM_001328100.1   c.-18A>T
NP_000116.2   p.Thr168Ser
NP_001116212.1   p.Thr168Ser
NP_001116213.1   p.Thr168Ser
NP_001116214.1   p.Thr168Ser
NP_001278159.1   p.Thr168Ser
NP_001278170.1   p.Thr168Ser
XP_005266913.1   p.Thr168Ser
XP_005266914.1   p.Thr168Ser
XP_006715437.1   p.Thr168Ser
XP_011533845.1   p.Thr168Ser
XP_011533846.1   p.Thr168Ser
XP_011533847.1   p.Thr168Ser
XP_011533849.1   p.Thr168Ser
XP_016865865.1   p.Thr168Ser
XP_016865866.1   p.Thr168Ser
XP_016865867.1   p.Thr168Ser
XP_016865868.1   p.Thr168Ser
XP_016865869.1   p.Thr168Ser
XP_016865870.1   p.Thr168Ser
XR_001743222.1   n.872A>T
XR_001743223.1   n.872A>T
rs1801132

Strand:    Allele origin:   Allele change: C/G   Mutation type: snp

CM000668.2   g.151944387G>C
NC_000006.11   g.152265522G>C
NC_000006.12   g.151944387G>C
NG_008493.2   g.292697C=
NG_008493.2   g.292697C>G
NM_000125.3   c.975C=
NM_000125.3   c.975C>G
NM_001122740.1   c.975C=
NM_001122740.1   c.975C>G
NM_001122741.1   c.975C=
NM_001122741.1   c.975C>G
NM_001122742.1   c.975C=
NM_001122742.1   c.975C>G
NM_001291230.1   c.981C=
NM_001291230.1   c.981C>G
NM_001291241.1   c.972C=
NM_001291241.1   c.972C>G
NM_001328100.1   c.456C=
NM_001328100.1   c.456C>G
NP_000116.2   p.Pro325=
NP_001116212.1   p.Pro325=
NP_001116213.1   p.Pro325=
NP_001116214.1   p.Pro325=
NP_001278159.1   p.Pro327=
NP_001278170.1   p.Pro324=
NP_001315029.1   p.Pro152=
XP_005266913.1   p.Pro327=
XP_005266914.1   p.Pro324=
XP_006715437.1   p.Pro325=
XP_006715438.1   p.Pro152=
XP_011533845.1   p.Pro325=
XP_011533846.1   p.Pro325=
XP_011533847.1   p.Pro325=
XP_011533849.1   p.Pro325=
XP_011533851.1   p.Pro82=
XP_016865865.1   p.Pro325=
XP_016865866.1   p.Pro325=
XP_016865867.1   p.Pro325=
XP_016865868.1   p.Pro325=
XP_016865869.1   p.Pro325=
XP_016865870.1   p.Pro325=
XP_016865871.1   p.Pro106=
XP_016865872.1   p.Pro62=
XR_001743222.1   n.1345G>C
XR_001743223.1   n.1345G>C
rs1884053

Strand:    Allele origin:   Allele change: C/T   Mutation type: snp

CM000668.2   g.151970331C>T
NC_000006.11   g.152291466C>T
NC_000006.12   g.151970331C>T
NG_008493.2   g.318641C>T
NM_000125.3   c.1096+25823C>T
NM_001122740.1   c.1096+25823C>T
NM_001122741.1   c.1096+25823C>T
NM_001122742.1   c.1096+25823C>T
NM_001291230.1   c.1102+25823C>T
NM_001291241.1   c.1093+25823C>T
NM_001328100.1   c.577+25823C>T
XR_001743222.1   n.1466+25823C>T
XR_001743223.1   n.1466+25823C>T
rs1884054

Strand:    Allele origin:   Allele change: A/C   Mutation type: snp

CM000668.2   g.151970431C>A
NC_000006.11   g.152291566C>A
NC_000006.12   g.151970431C>A
NG_008493.2   g.318741C>A
NM_000125.3   c.1096+25923C>A
NM_001122740.1   c.1096+25923C>A
NM_001122741.1   c.1096+25923C>A
NM_001122742.1   c.1096+25923C>A
NM_001291230.1   c.1102+25923C>A
NM_001291241.1   c.1093+25923C>A
NM_001328100.1   c.577+25923C>A
XR_001743222.1   n.1466+25923C>A
XR_001743223.1   n.1466+25923C>A
rs2207396

Strand:    Allele origin:   Allele change: A/G   Mutation type: snp

CM000668.2   g.152061247G>A
NC_000006.11   g.152382382G>A
NC_000006.12   g.152061247G>A
NG_008493.2   g.409557G>A
NM_000125.3   c.1369+123G>A
NM_001122740.1   c.1369+123G>A
NM_001122741.1   c.1369+123G>A
NM_001122742.1   c.1369+123G>A
NM_001291230.1   c.1375+123G>A
NM_001291241.1   c.1366+123G>A
NM_001328100.1   c.850+123G>A
XR_001743222.1   n.1600+123G>A
XR_001743223.1   n.1600+123G>A
rs2228480

Strand:    Allele origin:   Allele change: A/G   Mutation type: snp

CM000668.2   g.152098960G>A
NC_000006.11   g.152420095G>A
NC_000006.12   g.152098960G>A
NG_008493.2   g.447270G>A
NM_000125.3   c.1782G>A
NM_001122740.1   c.1782G>A
NM_001122741.1   c.1782G>A
NM_001122742.1   c.1782G>A
NM_001291230.1   c.1788G>A
NM_001291241.1   c.1779G>A
NM_001328100.1   c.851-26306G>A
NP_000116.2   p.Thr594=
NP_001116212.1   p.Thr594=
NP_001116213.1   p.Thr594=
NP_001116214.1   p.Thr594=
NP_001278159.1   p.Thr596=
NP_001278170.1   p.Thr593=
XP_005266913.1   p.Thr596=
XP_005266914.1   p.Thr593=
XP_006715438.1   p.Thr421=
XP_011533845.1   p.Thr594=
XP_011533846.1   p.Thr594=
XP_011533847.1   p.Thr594=
XP_011533851.1   p.Thr351=
XP_016865865.1   p.Thr594=
XP_016865866.1   p.Thr594=
XP_016865867.1   p.Thr594=
XP_016865868.1   p.Thr594=
XP_016865869.1   p.Thr594=
XP_016865870.1   p.Thr594=
XP_016865871.1   p.Thr375=
XP_016865872.1   p.Thr331=
XR_001743222.1   n.2013G>A
XR_001743223.1   n.1829G>A
rs2347867

Strand:    Allele origin:   Allele change: A/G   Mutation type: snp

CM000668.2   g.151908715G>A
NC_000006.11   g.152229850G>A
NC_000006.12   g.151908715G>A
NG_008493.2   g.257025G>A
NM_000125.3   c.760+27944G>A
NM_001122740.1   c.760+27944G>A
NM_001122741.1   c.760+27944G>A
NM_001122742.1   c.760+27944G>A
NM_001291230.1   c.766+27944G>A
NM_001291241.1   c.757+27947G>A
NM_001328100.1   c.241+27944G>A
XR_001743222.1   n.1130+27944G>A
XR_001743223.1   n.1130+27944G>A
rs2234693

Strand: +   Allele origin: unknown  Allele change: C/T   Mutation type: snp

NC_000006.12   g.151842200T>C
NC_000006.11   g.152163335T>C
NG_008493.2   g.190510T>C
NM_000125.3   c.453-397T>C
NM_001122741.1   c.453-397T>C
NM_001122742.1   c.453-397T>C
NM_001122740.1   c.453-397T>C
NM_001291230.1   c.453-397T>C
NM_001291241.1   c.453-397T>C
NM_0013281  
rs3853250

Strand:    Allele origin:   Allele change: A/C   Mutation type: snp

CM000668.2   g.151838765T>G
NC_000006.11   g.152159900T>G
NC_000006.12   g.151838765T>G
NG_008493.2   g.187075T>G
NM_000125.3   c.453-3832T>G
NM_001122740.1   c.453-3832T>G
NM_001122741.1   c.453-3832T>G
NM_001122742.1   c.453-3832T>G
NM_001291230.1   c.453-3832T>G
NM_001291241.1   c.453-3832T>G
NM_001328100.1   c.-67-3832T>G
XR_001743222.1   n.823-3832T>G
XR_001743223.1   n.823-3832T>G
rs3853251

Strand:    Allele origin:   Allele change: C/T   Mutation type: snp

CM000668.2   g.151839621A>G
NC_000006.11   g.152160756A>G
NC_000006.12   g.151839621A>G
NG_008493.2   g.187931A>G
NM_000125.3   c.453-2976A>G
NM_001122740.1   c.453-2976A>G
NM_001122741.1   c.453-2976A>G
NM_001122742.1   c.453-2976A>G
NM_001291230.1   c.453-2976A>G
NM_001291241.1   c.453-2976A>G
NM_001328100.1   c.-67-2976A>G
XR_001743222.1   n.823-2976A>G
XR_001743223.1   n.823-2976A>G
rs6557171

Strand:    Allele origin:   Allele change: A/C/T   Mutation type: snp

CM000668.2   g.151913458T>A
CM000668.2   g.151913458T>C
NC_000006.11   g.152234593T>C
NC_000006.12   g.151913458T>A
NC_000006.12   g.151913458T>C
NG_008493.2   g.261768T>A
NG_008493.2   g.261768T>C
NM_000125.3   c.761-30715T>A
NM_000125.3   c.761-30715T>C
NM_001122740.1   c.761-30715T>A
NM_001122740.1   c.761-30715T>C
NM_001122741.1   c.761-30715T>A
NM_001122741.1   c.761-30715T>C
NM_001122742.1   c.761-30715T>A
NM_001122742.1   c.761-30715T>C
NM_001291230.1   c.767-30715T>A
NM_001291230.1   c.767-30715T>C
NM_001291241.1   c.758-30715T>A
NM_001291241.1   c.758-30715T>C
NM_001328100.1   c.242-30715T>A
NM_001328100.1   c.242-30715T>C
XR_001743222.1   n.1131-30715T>A
XR_001743222.1   n.1131-30715T>C
XR_001743223.1   n.1131-30715T>A
XR_001743223.1   n.1131-30715T>C
rs9322331

Strand:    Allele origin:   Allele change: C/T   Mutation type: snp

CM000668.2   g.151841182C>T
NC_000006.11   g.152162317C>G
NC_000006.11   g.152162317C>T
NC_000006.12   g.151841182C>T
NG_008493.2   g.189492C>G
NG_008493.2   g.189492C>T
NM_000125.3   c.453-1415C>G
NM_000125.3   c.453-1415C>T
NM_001122740.1   c.453-1415C>G
NM_001122740.1   c.453-1415C>T
NM_001122741.1   c.453-1415C>G
NM_001122741.1   c.453-1415C>T
NM_001122742.1   c.453-1415C>G
NM_001122742.1   c.453-1415C>T
NM_001291230.1   c.453-1415C>G
NM_001291230.1   c.453-1415C>T
NM_001291241.1   c.453-1415C>G
NM_001291241.1   c.453-1415C>T
NM_001328100.1   c.-67-1415C>G
NM_001328100.1   c.-67-1415C>T
XR_001743222.1   n.823-1415C>T
XR_001743223.1   n.823-1415C>T
rs9340773

Strand:    Allele origin:   Allele change: A/C/G   Mutation type: snp

CM000668.2   g.151808141G>A
CM000668.2   g.151808141G>C
NC_000006.11   g.152129276G>A
NC_000006.12   g.151808141G>A
NC_000006.12   g.151808141G>C
NG_008493.2   g.156451G>A
NG_008493.2   g.156451G>C
NM_000125.3   c.229G>A
NM_000125.3   c.229G>C
NM_001122740.1   c.229G>A
NM_001122740.1   c.229G>C
NM_001122741.1   c.229G>A
NM_001122741.1   c.229G>C
NM_001122742.1   c.229G>A
NM_001122742.1   c.229G>C
NM_001291230.1   c.229G>A
NM_001291230.1   c.229G>C
NM_001291241.1   c.229G>A
NM_001291241.1   c.229G>C
NM_001328100.1   c.-1198G>A
NM_001328100.1   c.-1198G>C
NP_000116.2   p.Gly77Arg
NP_000116.2   p.Gly77Ser
NP_001116212.1   p.Gly77Arg
NP_001116212.1   p.Gly77Ser
NP_001116213.1   p.Gly77Arg
NP_001116213.1   p.Gly77Ser
NP_001116214.1   p.Gly77Arg
NP_001116214.1   p.Gly77Ser
NP_001278159.1   p.Gly77Arg
NP_001278159.1   p.Gly77Ser
NP_001278170.1   p.Gly77Arg
NP_001278170.1   p.Gly77Ser
XP_005266913.1   p.Gly77Ser
XP_005266914.1   p.Gly77Ser
XP_006715437.1   p.Gly77Arg
XP_006715437.1   p.Gly77Ser
XP_011533845.1   p.Gly77Arg
XP_011533845.1   p.Gly77Ser
XP_011533846.1   p.Gly77Arg
XP_011533846.1   p.Gly77Ser
XP_011533847.1   p.Gly77Arg
XP_011533847.1   p.Gly77Ser
XP_011533849.1   p.Gly77Arg
XP_011533849.1   p.Gly77Ser
XP_016865865.1   p.Gly77Arg
XP_016865865.1   p.Gly77Ser
XP_016865866.1   p.Gly77Arg
XP_016865866.1   p.Gly77Ser
XP_016865867.1   p.Gly77Arg
XP_016865867.1   p.Gly77Ser
XP_016865868.1   p.Gly77Arg
XP_016865868.1   p.Gly77Ser
XP_016865869.1   p.Gly77Arg
XP_016865869.1   p.Gly77Ser
XP_016865870.1   p.Gly77Arg
XP_016865870.1   p.Gly77Ser
XR_001743222.1   n.599G>A
XR_001743222.1   n.599G>C
XR_001743223.1   n.599G>A
XR_001743223.1   n.599G>C
rs9340799

Strand:    Allele origin:   Allele change: A/G   Mutation type: snp

CM000668.2   g.151842246A>G
NC_000006.11   g.152163381A>G
NC_000006.12   g.151842246A>G
NG_008493.2   g.190556A>G
NM_000125.3   c.453-351A>G
NM_001122740.1   c.453-351A>G
NM_001122741.1   c.453-351A>G
NM_001122742.1   c.453-351A>G
NM_001291230.1   c.453-351A>G
NM_001291241.1   c.453-351A>G
NM_001328100.1   c.-67-351A>G
XR_001743222.1   n.823-351A>G
XR_001743223.1   n.823-351A>G

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: 66,216

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
Interpro:  IPR000536 IPR001723 IPR024178 IPR001292 IPR024736 IPR001628 IPR013088
Prosite:   PS00031 PS51030

Pfam:  
PF12743 PF00104 PF02159 PF00105

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
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

DIP:  
5965
MINT:   129047
STRING:   ENSP00000206249;
Other Databases GeneCards:  ESR1;  Malacards:  ESR1

Gene ontology


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

KEGG pathways

hsa05205  Proteoglycans in cancer
hsa05224  Breast cancer
hsa01522  Endocrine resistance
hsa04919  Thyroid hormone signaling pathway
hsa04915  Estrogen signaling pathway
hsa04917  Prolactin signaling pathway
hsa04961  Endocrine and other factor-regulated calcium reabsorption

Diseases

Associated diseases References
Adenomyosis PMID: 20979911
Alzheimer's disease PMID: 11436125
Anorexia nervosa PMID: 11803451
Asthma PMID: 19247692
Atherosclerosis OMIM: 133430
Attention-deficit hyperactivity disorder (ADHD) PMID: 11140838
Autism PMID: 19598235
Azoospermia PMID: 18835831
Azoospermia PMID: 21430602
Breast cancer OMIM: 133430
Cholestasis PMID: 12206920
Chronic obstructive pulmonary disease (COPD) PMID: 19625176
Cryptorchidism PMID: 18452179
Defects in uterine receptivity PMID: 17118173
Dementia PMID: 12852830
Depression PMID: 12605096
Diabetes PMID: 15167446
Diminished ovarian reserve (DOR) PMID: 23522078
Dry eye syndrome PMID: 17378156
Endometrial hyperplasia PMID: 23690166
Endometriosis PMID: 15840311
Endometriosis PMID: 16260521
Female infertility PMID: 25526766
Genital malformation PMID: 10484768
Glomerulonephritis PMID: 19420105
Hypomenorrhea PMID: 18390216
Hypospadias PMID: 21934279
Impaired endometrial receptivity PMID: 21505981
Impaired spermatogenesis PMID: 18980759
Juvenile arthritis PMID: 12154211
Kidney disease PMID: 19578796
Luteal phase defects (LPD) PMID: 9160186
Male infertility PMID: 16396937
Metabolic syndrome PMID: 19032032
Migraine disorders PMID: 19093296
Mood disorders PMID: 18449864
Multiple sclerosis PMID: 12098649
Myocardial infarction OMIM: 133430
Nonsyndromic cryptorchidism PMID: 20887985
Obesity PMID: 19375130
Oligoasthenoteratozoospermia PMID: 23822672
Oligozoospermia PMID: 16213843
Osteoarthritis PMID: 16098017
Osteoporosis PMID: 18445777
Ovarian dysfunction PMID: 21269613
Ovarian dysfunction PMID: 21269613
Ovarian endometriosis PMID: 18849443
Ovarian endometriosis PMID: 21518137
Ovarian endometriosis PMID: 18762229
Ovarian endometriosis PMID: 11384649
Ovarian endometriosis PMID: 10856486
Ovarian endometriosis PMID: 23006437
Ovulatory dysfunction PMID: 11231990
Parkinson's disease PMID: 12174171
Periodontitis PMID: 18846948
Polycystic ovary syndrome (PCOS) PMID: 18681789
Precocious puberty PMID: 23559367
Preeclampsia PMID: 19199249
Premature ovarian failure ( POF) PMID: 19861327
Premature ovarian failure ( POF) PMID: 25585503
Premenstrual dysphoric disorder PMID: 17599809
Psychiatric disorders PMID: 19086053
Rectosigmoid endometriosis PMID: 25217304
Recurrent miscarriage PMID: 19152063
Rectosigmoid endometriosis INFBASE25217304
Ovarian endometriosis INFBASE23006437
Endometriosis associated infertility INFBASE23177411
Ovarian endometriosis INFBASE21518137
Tubal infertility INFBASE21269613
Polycystic ovary syndrome (PCOS) INFBASE21150157
Ovarian dysfunction INFBASE21269613
Female infertility INFBASE19729795
Ovarian endometriosis INFBASE18762229
Ovarian endometriosis INFBASE18849443
Minimal or mild endometriosis INFBASE16169423
Leiomyomas INFBASE17121748
Leiomyomas INFBASE11139535
Ovarian endometriosis INFBASE11384649
Ovarian endometriosis INFBASE10856486
Endometriosis INFBASE3439444
Adenomyosis INFBASE8288201
Retinopathy PMID: 18568888
Rheumatoid arthritis PMID: 10343533
Scleroderma PMID: 19032828
Scoliosis PMID: 19080622
Sertoli cell-only syndrome (SCOS) PMID: 19886769
Spermatogenetic defects PMID: 21429951
Spinal ossification PMID: 12195069
Spondylosis PMID: 16362385
Systemic lupus erythematosus PMID: 19399944
Testicular germ cell cancer PMID: 22245602
Trigeminal neuralgia PMID: 16430179
Unexplained female infertility PMID: 21842124
Unexplained infertility PMID: 24757403
Uterine receptivity PMID: 17118173
Varicose ulcers PMID: 16153823

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
15840311 Endometrio
sis

40 (25 eutopic
endometrium, 23
cases of ovari
an endometriosi
s, 11 cases of
vagina-rectum e
ndometriosis, 8
cases of perit
oneum endometri
osis, 16 cases
of uterine sero
sa endometriosi
s )
P450
estrogen receptor (ER)
Show abstract
10605405 Endometrio
sis

24 and 7 endome
triosis cases
Ki-67
ER
PR
Show abstract
10428168 Endometrio
sis
ER (Pvu II polymorphism, (TA)n multiallele polymorphism)

ER
Show abstract
8288201 Endometrio
sis

31 (18 cases of
ovarian endome
triosis, 13 cas
es of adenomyos
is)
ER
PR
Show abstract
8513960 Endometrio
sis

31 (18 cases of
ovarian endome
triosis, 13 cas
es of adenomyos
is)
ER
PR
Show abstract
15749482 Endometrio
sis
ER alpha* 14 TA repeats, CYP17* A1
221 (119 women
with endometrio
sis, 108 contro
ls)
ER alpha
CYP17
Show abstract
18849443 Endometrio
sis (ovari
an)


CYP1A1
CYP1B1
gamma-syn
ER alpha
ER beta
BCL-2
Show abstract
21150157 Endometrio
sis

1
HSD11B1
Show abstract
21110202 Endometrio
sis


Female infertility ESR1
ESR2
Show abstract
21518137 Endometrio
sis (ovari
an)


SRC-1
transitional intermediary factor 2 (TIF2)
SRC-3
and ER
Show abstract
24945100 Endometrio
sis

38 women with p
eritoneal endom
etriosis diagno
sed during inve
stigation for s
econdary infert
ility
Female infertility ERA
PR
PR-B
CRYAB
Show abstract
21269613 Endometrio
sis

41 (18 patients
with stage IV
endometriosis,
)
ER-alpha
ER-beta
PR-A
PR-B
Show abstract
25217304 Endometrio
sis (Recto
sigmoid)

18 consecutive
patients with e
ndometriosis
HOXA10
ER-A
PR
PR-B
Show abstract
18687423 Endometrio
sis
ERalpha (X allele of ERalpha-XbaI), IL-10 (-592 or -819 C allele ) Chinese
374 (214 affect
ed women, 160 c
ontrols)
Eralpha
IL-10
Show abstract
17454161 Endometrio
sis

25 (16 samples
of ovarian endo
metriosis, 9 of
normal endomet
rium)
Aromatase
17beta-HSD types 1
17beta-HSD types 7
sulfatase
Erbeta
Eralpha
Show abstract
16210018 Endometrio
sis

74 (37 matched
samples from en
dometriotic and
corresponding
endometrial bio
psies obtained
during the prol
iferative and s
ecretory phase,
37 endometrial
biopsies obtai
ned from health
y women)
MMP-1
Eralpha
Erbeta
Show abstract
19094579 Endometrio
sis

90 (60 cases of
ovarian endome
triotic cysts w
ith their corre
sponding eutopi
c endometrium (
30 cases of pro
liferation phas
e and 30 of sec
retary phase eu
topic endometri
um), 30 cases o
f normal endome
trium (15 proli
ferative and 15
secretary phas
e endometrial s
Erbeta
Eralpha
Show abstract
16855153 Endometrio
sis


Eralpha
Erbeta
Show abstract
17121748 Endometrio
sis
Eralpha (-351 XbaI*G, -397 PvuII*C)
328 (112 severe
endometriosis,
106 leiomyoma,
110 controls)
ERalpha
Show abstract
16500359 Endometrio
sis
ERalpha (PvuII and XbaI) and ERbeta (AluI)
61 women with e
ndometriosis
ERalpha
Show abstract
11139535 Endometrio
sis
ESR1 (PVUII polymorphism)
382 (203 women
with regular me
nstrual cycles
underwent lapar
otomy or laparo
scopy and were
diagnosed histo
logically with
endometriosis,
adenomyosis and
/or leiomyomata
, 179 women und
ergoing annual
health examinat
ion were groupe
d as reference
population)
ESR1
Show abstract
18762229 Endometrio
sis (ovari
an)


Eralpha
Erbeta
Show abstract
16169423 Endometrio
sis
PvuII, XbaI, and thymine-adenine (TA) repeat polymorphisms Korean

ER-alpha
Show abstract
11384649 Endometrio
sis (Ovari
an and Per
itoneal)

70 (33 peritone
al endometrial
lesions, 37 ova
rian endometrio
tic lesions)
ER-alpha
ER-beta
Show abstract
10856486 Endometrio
sis (Ovari
an)

47 (32 patients
during laparos
copic cystectom
y, 15 Samples o
f ovarian tissu
e and endometri
um were obtaine
d from 15 patie
nts during or j
ust after surge
ry)
ER-alpha
Show abstract
24427778 Endometrio
sis
LIF (rs929271), MDM2 (rs2279744), MDM4 (rs1563828), USP7 (rs1529916), and ESR1(rs9340799 and rs2234693) polymorphisms
347 (98 inferti
le women with e
ndometriosis, 1
15 infertile wo
men with at lea
st one IVF fail
ure and also 13
4 fertile women
as controls)
Female infertility LIF
MDM2
MDM4
USP7
ESR1
Show abstract
20586553 Endometrio
sis, Endom
etriosis a
ssociated
infertilit
y
ESR1 (rs2234693 - T/C single nucleotide polymorphism (SNP), dinucleotide (TA)(n) repeat) and ESR2 (dinucleotide (CA)(n) repeat),progesterone receptor gene PGR (rs10895068 - G/A SNP, 306-bp Alu-insertion), 17?-hydroxysteroid dehydrogenase type 1 gene HSD1
349 (150 endome
triosis, 199 co
ntrols)
Female infertility ESR1
ESR2
PGR
CYP19A1 and HSD17B1
Show abstract
19729795 Endometrio
sis
T/C SNP in intron 1 and exon 2 boundary of estrogen receptor (ER) alpha gene recognized by PvuII enzyme
367 (110 cases
of endometriosi
s, 142 cases of
uterine fibroi
ds and 115 heal
thy age matched
women voluntee
rs)

Show abstract
24481237 Endometrio
sis

51 (44 endometr
iotic tissues (
39 severe dysme
norrhea, 29 dys
pareunia, 24 in
fertility), 7 m
atched eutopic
endometrium)
Female infertility ESR1
ESR2
PGR
Show abstract
23899551 Endometrio
sis

41 (15 endometr
ium from patien
ts, 26 endometr
ium from contro
ls)
HOXA10
ESR1
CDH1
CDKN1A
HRH4
HIST2H3C
Show abstract
21397694 Endometrio
sis

20 (11 ovarian
endometriosis s
amples, 9 contr
ol endometrium
samples)
ESR1
Show abstract
23177411 Endometrio
sis
ESR1(rs1159327 A/G, rs3020348 A/C) and ESR2 (rs17179740 A/G)
669 (157 infert
ile and 155 fer
tile endometrio
sis women as we
ll as 92 women
with primary in
fertility and 2
65 fertile wome
n as controls)
Female infertility ESR1
ESR2
Show abstract
23006437 Endometrio
sis (ovari
an)

18 (8 moderate
endometriosis,
10 severe endom
etriosis)
CLOCK
ESR1
and MYC
Show abstract
3439444 Endometrio
sis

14 patients wit
h endometriosis
Female infertility PRc
Erc
Show abstract