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 categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
1634
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Absent axillary hair Pathogenic rs1555969528 RCV000626572
Absent pubic hair Pathogenic rs1555969528 RCV000626572
Androgen insensitivity, partial, with breast cancer Pathogenic rs137852576 RCV000010502
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
RCV001533213
RCV001787231
RCV001568309
RCV001568310
RCV001787234
RCV001726694
RCV001787235
RCV001787236
RCV001808075
RCV002542705
RCV002275264
RCV005225521
RCV001848590
RCV001848601
RCV002035910
RCV001867583
RCV001964227
RCV001923647
RCV001927307
RCV001991264
RCV001946527
RCV001960660
RCV001960720
RCV001946629
RCV001963282
RCV001920317
RCV002021449
RCV002331856
RCV002251259
RCV002272646
RCV002272808
RCV002273090
RCV002283648
RCV002284026
RCV002289067
RCV002302851
RCV002310618
RCV002466924
RCV002471897
RCV002472280
RCV003064728
RCV003064729
RCV003041450
RCV003041451
RCV003050617
RCV002625804
RCV002815395
RCV002797041
RCV002802182
RCV002835205
RCV002851524
RCV002970595
RCV002985696
RCV003033737
RCV003000181
RCV003130941
RCV000010478
RCV000010479
RCV000010480
RCV000698414
RCV000010482
RCV000010485
RCV000640478
RCV000010488
RCV000010489
RCV000010490
RCV000010493
RCV000806067
RCV000532628
RCV000010499
RCV000582333
RCV000010529
RCV000010506
RCV000010511
RCV000010512
RCV000010513
RCV000010516
RCV005222678
RCV000010522
RCV000010524
RCV000010526
RCV000010527
RCV000010528
RCV000010530
RCV000010532
RCV000010533
RCV000010534
RCV000640477
RCV000258807
RCV001787093
RCV000583276
RCV000532795
RCV000584628
RCV000582566
RCV001859531
RCV003229546
RCV005216043
RCV003320007
RCV003883995
RCV003778233
RCV003459914
RCV003459915
RCV003459916
RCV003494493
RCV003783769
RCV003783770
RCV003783771
RCV003783773
RCV003783775
RCV003783776
RCV003782752
RCV003783034
RCV003779439
RCV003807925
RCV003807953
RCV003804236
RCV003802931
RCV003802670
RCV003802052
RCV003802424
RCV003815673
RCV003801744
RCV003815492
RCV003802553
RCV003985963
RCV003985976
RCV003986003
RCV003986047
RCV004595378
RCV000415036
RCV003766746
RCV000499725
RCV000501357
RCV000583701
RCV000529989
RCV000546202
RCV000554118
RCV001384434
RCV000557358
RCV000554482
RCV001377727
RCV000535980
RCV000534959
RCV000528841
RCV000546100
RCV001381488
RCV000547141
RCV000542858
RCV000543473
RCV001376911
RCV000583962
RCV000581586
RCV000582975
RCV000584652
RCV000583130
RCV000584351
RCV000582429
RCV000582115
RCV000583799
RCV000581269
RCV000582497
RCV000583716
RCV000581364
RCV000582655
RCV000583865
RCV000581949
RCV000584020
RCV000584561
RCV000583403
RCV000583496
RCV000582850
RCV000583629
RCV000584242
RCV000581866
RCV000640476
RCV000640475
RCV000660882
RCV000701672
RCV000702048
RCV000704129
RCV000705046
RCV000697147
RCV000700147
RCV000796993
RCV000798376
RCV000800702
RCV000815852
RCV000806051
RCV000815871
RCV000814876
RCV000804161
RCV000810850
RCV000991197
RCV001049499
RCV001056832
RCV001070365
RCV001169865
RCV001218858
RCV001219621
RCV001223380
RCV001206102
RCV001212478
RCV001208881
RCV001262662
RCV001268946
RCV004691403
RCV001270904
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Castleman-Kojima disease Conflicting classifications of pathogenicity rs1800053 RCV000824699
Cervical cancer Likely benign rs113613897 RCV005917623
Cholangiocarcinoma Benign rs2361635 RCV005924719
Familial cancer of breast Benign rs2361635 RCV005924717
Associations from Text MiningDisease 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