Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
367
Gene name Gene Name - the full gene name approved by the HGNC.
Androgen receptor
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
AR
Synonyms (NCBI Gene) Gene synonyms aliases
AIS, AR8, DHTR, HUMARA, HYSP1, KD, NR3C4, SBMA, SMAX1, TFM
Chromosome Chromosome number
X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
Xq12
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
miRTarBase ID miRNA Experiments Reference
MIRT003789 hsa-miR-488-5p Luciferase reporter assay, qRT-PCR, Western blot 21710544
MIRT003789 hsa-miR-488-5p Luciferase reporter assay, qRT-PCR, Western blot 21710544
MIRT006451 hsa-miR-124-3p Luciferase reporter assay, qRT-PCR, Western blot 22386953
MIRT006451 hsa-miR-124-3p Luciferase reporter assay, qRT-PCR, Western blot 22386953
MIRT003789 hsa-miR-488-5p Luciferase reporter assay, qRT-PCR 21710544
Transcription factors
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
313700 644 ENSG00000169083
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Hypospadias, X-Linked hypospadias 1, x-linked rs143040492, rs137852574 N/A
Kennedy Disease kennedy disease rs3032358 N/A
male infertility Male infertility rs9332971 N/A
Partial Androgen Insensitivity Syndrome partial androgen insensitivity syndrome rs137852564, rs104894742, rs9332970, rs9332971, rs2147483647, rs137852590, rs137852592, rs9332969, rs1602278831, rs137852577, rs137852600, rs137852601, rs137852567, rs886041352, rs137852569
View all (3 more)
N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Complete Androgen Insensitivity Syndrome androgen insensitivity syndrome, complete androgen insensitivity syndrome N/A N/A GenCC
Hypogonadism Hypogonadism N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
46 XY female Associate 21311178, 32216057
Abortion Spontaneous Associate 28707146
Achalasia Addisonianism Alacrimia syndrome Associate 19921427, 31413553
Acne Vulgaris Associate 19172534, 31249215, 34998793, 36585988
Adenocarcinoma Associate 12445232, 18007998, 20126616, 24618694, 25274033, 26671992, 27072221, 29052817, 29605661, 32091413, 32512818, 33664492, 33817721, 34133324, 35219875
View all (3 more)
Adenocarcinoma Mucinous Associate 18508419
Adenocarcinoma Mucinous Inhibit 19887463
Adenoma Associate 31522216
Adenoma Pleomorphic Associate 19061288, 20027446, 20711118, 30484070
Adenomatous Polyposis Coli Associate 7521342