Gene Gene information from NCBI Gene database.
Entrez ID 367
Gene name Androgen receptor
Gene symbol AR
Synonyms (NCBI Gene)
AISAR8DHTRHUMARAHYSP1KDNR3C4SBMASMAX1TFM
Chromosome X
Chromosome location Xq12
Summary The androgen receptor gene is more than 90 kb long and codes for a protein that has 3 major functional domains: the N-terminal domain, DNA-binding domain, and androgen-binding domain. The protein functions as a steroid-hormone activated transcription fact
SNPs SNP information provided by dbSNP.
145
SNP ID Visualize variation Clinical significance Consequence
rs1800053 C>A Pathogenic, uncertain-significance, likely-benign Coding sequence variant, missense variant, genic downstream transcript variant
rs9332969 G>A,T Pathogenic Coding sequence variant, missense variant, genic downstream transcript variant
rs9332970 T>C Pathogenic Coding sequence variant, missense variant, genic downstream transcript variant
rs9332971 G>A,T Pathogenic Coding sequence variant, missense variant, genic downstream transcript variant
rs104894742 G>A Pathogenic Coding sequence variant, 5 prime UTR variant, missense variant
miRNA miRNA information provided by mirtarbase database.
553
miRTarBase ID miRNA Experiments Reference
MIRT003789 hsa-miR-488-5p Luciferase reporter assayqRT-PCRWestern blot 21710544
MIRT003789 hsa-miR-488-5p Luciferase reporter assayqRT-PCRWestern blot 21710544
MIRT006451 hsa-miR-124-3p Luciferase reporter assayqRT-PCRWestern blot 22386953
MIRT006451 hsa-miR-124-3p Luciferase reporter assayqRT-PCRWestern blot 22386953
MIRT003789 hsa-miR-488-5p Luciferase reporter assayqRT-PCR 21710544
Transcription factors Transcription factors information provided by TRRUST V2 database.
55
Transcription factor Regulation Reference
CREB1 Unknown 15994978;21457548
CTNNB1 Unknown 16141201
E2F1 Activation 21099103
E2F1 Unknown 22508987
E2F4 Unknown 22508987
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
128
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IMP 12902338
GO:0000165 Process MAPK cascade IEA
GO:0000785 Component Chromatin IBA
GO:0000785 Component Chromatin IDA 17277772, 17505061
GO:0000785 Component Chromatin ISA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
313700 644 ENSG00000169083
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P10275
Protein name Androgen receptor (Dihydrotestosterone receptor) (Nuclear receptor subfamily 3 group C member 4)
Protein function Steroid hormone receptors are ligand-activated transcription factors that regulate eukaryotic gene expression and affect cellular proliferation and differentiation in target tissues (PubMed:19022849). Transcription factor activity is modulated b
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
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02166 Androgen_recep 6 449 Androgen receptor Family
PF00105 zf-C4 558 627 Zinc finger, C4 type (two domains) Domain
PF00104 Hormone_recep 690 881 Ligand-binding domain of nuclear hormone receptor Domain
Tissue specificity TISSUE SPECIFICITY: [Isoform 2]: Mainly expressed in heart and skeletal muscle. {ECO:0000269|PubMed:15634333}.; TISSUE SPECIFICITY: [Isoform 3]: Expressed in basal and stromal cells of the prostate (at protein level). {ECO:0000269|PubMed:19244107}.
Sequence
MEVQLGLGRVYPRPPSKTYRGAFQNLFQSVREVIQNPGPRHPEAASAAPPGASLLLLQQQ
QQQQQQQQQQQQQQQQQQQQETSPRQQQQQQGEDGSPQAHRRGPTGYLVLDEEQQPSQPQ
SALECHPERGCVPEPGAAVAASKGLPQQLPAPPDEDDSAAPSTLSLLGPTFPGLSSCSAD
LKDILSEASTMQLLQQQQQEAVSEGSSSGRAREASGAPTSSKDNYLGGTSTISDNAKELC
KAVSVSMGLGVEALEHLSPGEQLRGDCMYAPLLGVPPAVRPTPCAPLAECKGSLLDDSAG
KSTEDTAEYSPFKGGYTKGLEGESLGCSGSAAAGSSGTLELPSTLSLYKSGALDEAAAYQ
SRDYYNFPLALAGPPPPPPPPHPHARIKLENPLDYGSAWAAAAAQCRYGDLASLHGAGAA
GPGSGSPSAAASSSWHTLFTAEEGQLYGP
CGGGGGGGGGGGGGGGGGGGGGGGEAGAVAP
YGYTRPPQGLAGQESDFTAPDVWYPGGMVSRVPYPSPTCVKSEMGPWMDSYSGPYGDMRL
ETARDHVLPIDYYFPPQKTCLICGDEASGCHYGALTCGSCKVFFKRAAEGKQKYLCASRN
DCTIDKFRRKNCPSCRLRKCYEAGMTL
GARKLKKLGNLKLQEEGEASSTTSPTEETTQKL
TVSHIEGYECQPIFLNVLEAIEPGVVCAGHDNNQPDSFAALLSSLNELGERQLVHVVKWA
KALPGFRNLHVDDQMAVIQYSWMGLMVFAMGWRSFTNVNSRMLYFAPDLVFNEYRMHKSR
MYSQCVRMRHLSQEFGWLQITPQEFLCMKALLLFSIIPVDGLKNQKFFDELRMNYIKELD
RIIACKRKNPTSCSRRFYQLTKLLDSVQPIARELHQFTFDL
LIKSHMVSVDFPEMMAEII
SVQVPKILSGKVKPIYFHTQ
Sequence length 920
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Oocyte meiosis
Pathways in cancer
Chemical carcinogenesis - receptor activation
Prostate cancer
  HSP90 chaperone cycle for steroid hormone receptors (SHR)
Nuclear Receptor transcription pathway
SUMOylation of intracellular receptors
Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3
Ub-specific processing proteases
RUNX2 regulates osteoblast differentiation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
71
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Absent axillary hair Pathogenic rs1555969528 RCV000626572
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Absent pubic hair Pathogenic rs1555969528 RCV000626572
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Androgen insensitivity, partial, with breast cancer Pathogenic rs137852576 RCV000010502
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Androgen resistance syndrome Likely pathogenic; Pathogenic rs2147530857, rs367604031, rs2147436590, rs2076118553, rs2147525357, rs2147530924, rs1034866440, rs2147538369, rs2147540378, rs2147323184, rs2147436623, rs1929657778, rs2147540656, rs2147530668, rs2147530793
View all (186 more)
RCV001375948
RCV001391229
RCV001385554
RCV001380446
RCV001391228
View all (207 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ANDROGEN INSENSITIVITY SYNDROME GenCC, HPO
GenCC, HPO
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANDROGEN INSENSITIVITY, PARTIAL HPO
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANDROGEN-INSENSITIVITY SYNDROME CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANDROGENETIC ALOPECIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations