Endometriosis Knowledgebase

Search Result

Gene id

367

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

Gene Summary

Gene Symbol

AR Gene UCSC Ensembl

Aliases

AIS, AR8, DHTR, HUMARA, HYSP1, KD, NR3C4, SBMA, SMAX1, TFM

Gene name

androgen receptor

Alternate names

androgen receptor, dihydrotestosterone receptor, nuclear receptor subfamily 3 group C member 4,

Gene location

Xq12 (67544031: 67730618) Exons: 9 NC_000023.11

Gene summary(Entrez)

The androgen receptor gene is more than 90 kb long and codes for a protein that has 3 major functional domains: the N-terminal domain, DNA-binding domain, and androgen-binding domain. The protein functions as a steroid-hormone activated transcription factor. Upon binding the hormone ligand, the receptor dissociates from accessory proteins, translocates into the nucleus, dimerizes, and then stimulates transcription of androgen responsive genes. This gene contains 2 polymorphic trinucleotide repeat segments that encode polyglutamine and polyglycine tracts in the N-terminal transactivation domain of its protein. Expansion of the polyglutamine tract from the normal 9-34 repeats to the pathogenic 38-62 repeats causes spinal bulbar muscular atrophy (SBMA, also known as Kennedy's disease). Mutations in this gene are also associated with complete androgen insensitivity (CAIS). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2017]

OMIM

313700

Protein Summary

Protein general information

P10275

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

Length: 920 Mass: 99,188

Tissue specificity: Isoform 2 is mainly expressed in heart and skeletal muscle (PubMed

Sequence

MEVQLGLGRVYPRPPSKTYRGAFQNLFQSVREVIQNPGPRHPEAASAAPPGASLLLLQQQQQQQQQQQQQQQQQQ
QQQQQETSPRQQQQQQGEDGSPQAHRRGPTGYLVLDEEQQPSQPQSALECHPERGCVPEPGAAVAASKGLPQQLP
APPDEDDSAAPSTLSLLGPTFPGLSSCSADLKDILSEASTMQLLQQQQQEAVSEGSSSGRAREASGAPTSSKDNY
LGGTSTISDNAKELCKAVSVSMGLGVEALEHLSPGEQLRGDCMYAPLLGVPPAVRPTPCAPLAECKGSLLDDSAG
KSTEDTAEYSPFKGGYTKGLEGESLGCSGSAAAGSSGTLELPSTLSLYKSGALDEAAAYQSRDYYNFPLALAGPP
PPPPPPHPHARIKLENPLDYGSAWAAAAAQCRYGDLASLHGAGAAGPGSGSPSAAASSSWHTLFTAEEGQLYGPC
GGGGGGGGGGGGGGGGGGGGGGGEAGAVAPYGYTRPPQGLAGQESDFTAPDVWYPGGMVSRVPYPSPTCVKSEMG
PWMDSYSGPYGDMRLETARDHVLPIDYYFPPQKTCLICGDEASGCHYGALTCGSCKVFFKRAAEGKQKYLCASRN
DCTIDKFRRKNCPSCRLRKCYEAGMTLGARKLKKLGNLKLQEEGEASSTTSPTEETTQKLTVSHIEGYECQPIFL
NVLEAIEPGVVCAGHDNNQPDSFAALLSSLNELGERQLVHVVKWAKALPGFRNLHVDDQMAVIQYSWMGLMVFAM
GWRSFTNVNSRMLYFAPDLVFNEYRMHKSRMYSQCVRMRHLSQEFGWLQITPQEFLCMKALLLFSIIPVDGLKNQ
KFFDELRMNYIKELDRIIACKRKNPTSCSRRFYQLTKLLDSVQPIARELHQFTFDLLIKSHMVSVDFPEMMAEII
SVQVPKILSGKVKPIYFHTQ

Structural information

Interpro:	IPR001103 IPR000536 IPR015943 IPR001628
Prosite:	PS00031 PS51030
Pfam:	PF02166 PF00104 PF00105
PDB:	1E3G 1GS4 1T5Z 1T63 1T65 1XJ7 1XOW 1XQ3 1Z95 2AM9 2AMA 2AMB 2AO6 2AX6 2AX7 2AX8 2AX9 2AXA 2HVC 2OZ7 2PIO 2PIP 2PIQ 2PIR 2PIT 2PIU 2PIV 2PIW 2PIX 2PKL 2PNU 2Q7I 2Q7J 2Q7K 2Q7L 2YHD 2YLO 2YLP 2YLQ 2Z4J 3B5R 3B65 3B66 3B67 3B68 3BTR 3L3X 3L3Z 3RLJ 3RLL 3V49
PDBsum:	1E3G 1GS4 1T5Z 1T63 1T65 1XJ7 1XOW 1XQ3 1Z95 2AM9 2AMA 2AMB 2AO6 2AX6 2AX7 2AX8 2AX9 2AXA 2HVC 2OZ7 2PIO 2PIP 2PIQ 2PIR 2PIT 2PIU 2PIV 2PIW 2PIX 2PKL 2PNU 2Q7I 2Q7J 2Q7K 2Q7L 2YHD 2YLO 2YLP 2YLQ 2Z4J 3B5R 3B65 3B66 3B67 3B68 3BTR 3L3X 3L3Z 3RLJ 3RLL 3V49
DIP:	125
MINT:	94801
STRING:	ENSP00000363822;

Other Databases

GeneCards: AR; Malacards: AR

Gene ontology

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

KEGG pathways

hsa05200  Pathways in cancer
hsa05215  Prostate cancer
hsa04114  Oocyte meiosis

Diseases

Associated diseases	References
21-hydroxylase deficiency (CAH)	PMID: 15644580
46 XY disorders of sex development (DSD)	PMID: 26492835
Acne vulgaris	PMID: 18624843
Alopecia areata	PMID: 18385763
Alzheimer's disease	PMID: 17116317
Ambiguous genitalia	PMID: 8834252
Androgen insensitivity syndrome (AIS)	PMID: 24098470
Androgen resistance syndromes	PMID: 9160185
Antral follicle morphology	PMID: 20843821
Arrested spermatogenesis	PMID: 17027356
Asthenozoospermia	PMID: 21486420
Attention-deficit hyperactivity disorder (ADHD)	PMID: 11140838
Autism	PMID: 19058789
Azoospermia	PMID: 25677139
Complete androgen insensitivity syndrome (CAIS)	PMID: 25034089
Complete testicular feminization	PMID: 8450040
Coronary artery disease	PMID: 14974917
Cryptorchidism	PMID: 21962961
Defective spermatogenesis	PMID: 759869
Diabetes	PMID: 14641003
Diabetes	PMID: 14641003
Dysgenetic gonads	PMID: 10428170
Dyslipidemia	PMID: 19159685
Endometrial cancer	PMID: 27384477
Endometriosis	PMID: 20190557
Erectile dysfunction	PMID: 26216079
Female infertility	PMID: 16450583
Hyperandrogenism	PMID: 18171720
Hypogonadism	PMID: 23193666
Hypospadias	PMID: 15835798
Impaired spermatogenesis	PMID: 9360540
Isolated penile hypospadias	PMID: 8683794
Kennedy's disease	PMID: 14999487
Klinefelter syndrome	PMID: 19017913
Late-onset hypogonadism (LOH)	PMID: 22419720
Machado-Joseph disease	PMID: 12042281
Male infertility	PMID: 25633053
Male pattern baldness	PMID: 11231320
Male pseudohermaphroditism (MPH)	PMID: 9698822
Micropenis	PMID: 15201804
Migraine disorders	PMID: 15654614
Mixed gonadal dysgenesis	PMID: 3026952
Myotonic dystrophy	PMID: 12042281
Neuromuscular diseases	PMID: 10956560
Non-obstructive azoospermia (NOA)	PMID: 24919724
Noonan syndrome	KEGG: H00523
Obesity	PMID: 12532157
Oligoasthenoteratozoospermia	PMID: 19752597
Oligozoospermia	PMID: 26221130
Osteoarthritis	PMID: 16098017
Osteoporosis	PMID: 12127038
Ovarian hyperandrogenism	PMID: 12843184
Penoscrotal hypospadias	PMID: 16957138
Polycystic ovary syndrome (PCOS)	PMID: 26649621
Poor ovarian response (POR)	PMID: 25131556
Prader-Willi syndrome	PMID: 25925349
Premature ovarian failure ( POF)	PMID: 20101683
Primary amenorrhea	PMID: 25606384
Primary spermatogenetic failure	PMID: 21393548
Prostate cancer	KEGG: H00024
Reifenstein syndrome	PMID: 7929841
Retinopathy	PMID: 12542725
Rheumatoid arthritis	PMID: 19555469
Schizophrenia	PMID: 7649358
Sertoli cell-only syndrome (SCOS)	PMID: 24098470
Spermatogenetic defects	PMID: 23725463
Spinal and bulbar muscular atrophy	KEGG: H00062, KEGG: H00455
Teratozoospermia	PMID: 15117901
Testicular failure	PMID: 24124902
Testicular dysgenesis syndrome (TDS)	PMID: 23589523
Testis development	PMID: 19276236
Female infertility	INFBASE20190557
Polycystic ovary syndrome (PCOS)	INFBASE20190557
Uterine leiomyomas	INFBASE20063560
Endometriosis	INFBASE15120698
Turner Syndrome (TS)	PMID: 10680293
Undermasculinized genitalia	PMID: 10749991
Undescended testis	PMID: 16566985
Urolithiasis	PMID: 11564035
Uterine leiomyomas	PMID: 20063560
Varicocele	PMID: 25850410
X-linked adrenoleukodystrophy	PMID: 24722136

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
17983420	Endometrio sis			21 (13 control, 8 endometriosi s)			Show abstract
15120698	Endometrio sis	AR-CAG repeat length	Italian	302 (197 white Italian women o f reproductive age who underwe nt laparoscopy for benign gyne cologic patholo gies, 105 women (stage I-II in 33 women and s tage III-IV in 72 women))		AR	Show abstract
20063560	Endometrio sis	19 and 20 CAG repeats of the AR gene		331 (90 endomet riosis cases, 1 40 cases of lei omyomas, 101 he althy age- and sex-matched con trols)		AR	Show abstract
20190557	Endometrio sis	CAG repeat length polymorphism	Souther n Chine se Han	215 (74 women w ith PCOS and wi th endometriosi s, 141 controls )	Female infertility		Show abstract