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AR androgen receptor [ Homo sapiens (human) ]

Gene ID: 367, updated on 9-Dec-2018

Summary

Official Symbol
ARprovided by HGNC
Official Full Name
androgen receptorprovided by HGNC
Primary source
HGNC:HGNC:644
See related
Ensembl:ENSG00000169083 MIM:313700
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
KD; AIS; AR8; TFM; DHTR; SBMA; HYSP1; NR3C4; SMAX1; HUMARA
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 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]
Expression
Biased expression in liver (RPKM 12.9), endometrium (RPKM 10.8) and 13 other tissues See more
Orthologs

Genomic context

Location:
Xq12
Exon count:
11
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) X NC_000023.11 (67544623..67730619)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (66763874..66950461)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene zinc finger protein 681 pseudogene Neighboring gene poly(A) binding protein nuclear 1 pseudogene Neighboring gene androgen receptor repeat instability region Neighboring gene uncharacterized LOC105373241 Neighboring gene BMI1 proto-oncogene, polycomb ring finger pseudogene 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Androgen resistance syndrome Compare labs
Bulbo-spinal atrophy X-linked Compare labs
Hypospadias 1, X-linked
MedGen: C2678098 OMIM: 300633 GeneReviews: Not available
Compare labs
Malignant tumor of prostate
MedGen: C0376358 OMIM: 176807 GeneReviews: Not available
Compare labs
Partial androgen insensitivity syndrome
MedGen: C0268301 OMIM: 312300 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2012-03-22)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2012-03-22)

ClinGen Genome Curation PagePubMed

NHGRI GWAS Catalog

Description
Genome-wide association analysis of metabolic traits in a birth cohort from a founder population.
NHGRI GWA Catalog
Male-pattern baldness susceptibility locus at 20p11.
NHGRI GWA Catalog
Seven prostate cancer susceptibility loci identified by a multi-stage genome-wide association study.
NHGRI GWA Catalog
Six novel susceptibility Loci for early-onset androgenetic alopecia and their unexpected association with common diseases.
NHGRI GWA Catalog
Susceptibility variants on chromosome 7p21.1 suggest HDAC9 as a new candidate gene for male-pattern baldness.
NHGRI GWA Catalog

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATPase binding IDA
Inferred from Direct Assay
more info
PubMed 
DNA binding NAS
Non-traceable Author Statement
more info
PubMed 
DNA-binding transcription activator activity, RNA polymerase II-specific IDA
Inferred from Direct Assay
more info
PubMed 
DNA-binding transcription factor activity IDA
Inferred from Direct Assay
more info
PubMed 
DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
 
DNA-binding transcription factor activity, RNA polymerase II-specific ISM
Inferred from Sequence Model
more info
PubMed 
DNA-binding transcription factor activity, RNA polymerase II-specific NAS
Non-traceable Author Statement
more info
PubMed 
POU domain binding IEA
Inferred from Electronic Annotation
more info
 
RNA polymerase II basal transcription factor binding IPI
Inferred from Physical Interaction
more info
PubMed 
RNA polymerase II proximal promoter sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
RNA polymerase II transcription factor binding IPI
Inferred from Physical Interaction
more info
PubMed 
androgen binding IDA
Inferred from Direct Assay
more info
PubMed 
androgen binding NAS
Non-traceable Author Statement
more info
PubMed 
beta-catenin binding IDA
Inferred from Direct Assay
more info
PubMed 
beta-catenin binding IPI
Inferred from Physical Interaction
more info
PubMed 
beta-catenin binding TAS
Traceable Author Statement
more info
PubMed 
chromatin binding IDA
Inferred from Direct Assay
more info
PubMed 
enzyme binding IPI
Inferred from Physical Interaction
more info
PubMed 
nuclear receptor activity IDA
Inferred from Direct Assay
more info
PubMed 
nuclear receptor activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
nuclear receptor activity NAS
Non-traceable Author Statement
more info
PubMed 
nuclear receptor activity TAS
Traceable Author Statement
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein dimerization activity NAS
Non-traceable Author Statement
more info
PubMed 
signaling receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
steroid binding IEA
Inferred from Electronic Annotation
more info
 
steroid hormone receptor activity IDA
Inferred from Direct Assay
more info
PubMed 
transcription factor binding IPI
Inferred from Physical Interaction
more info
PubMed 
transcription regulatory region DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
zinc ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
Leydig cell differentiation IEA
Inferred from Electronic Annotation
more info
 
activation of prostate induction by androgen receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
androgen receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
animal organ formation IEA
Inferred from Electronic Annotation
more info
 
cell proliferation NAS
Non-traceable Author Statement
more info
PubMed 
cell-cell signaling TAS
Traceable Author Statement
more info
PubMed 
cellular response to steroid hormone stimulus IMP
Inferred from Mutant Phenotype
more info
PubMed 
cellular response to testosterone stimulus IEA
Inferred from Electronic Annotation
more info
 
epithelial cell differentiation involved in prostate gland development IEA
Inferred from Electronic Annotation
more info
 
epithelial cell morphogenesis IEA
Inferred from Electronic Annotation
more info
 
in utero embryonic development IEA
Inferred from Electronic Annotation
more info
 
intracellular receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
lateral sprouting involved in mammary gland duct morphogenesis IEA
Inferred from Electronic Annotation
more info
 
male genitalia morphogenesis IEA
Inferred from Electronic Annotation
more info
 
male somatic sex determination IEA
Inferred from Electronic Annotation
more info
 
mammary gland alveolus development IEA
Inferred from Electronic Annotation
more info
 
morphogenesis of an epithelial fold IEA
Inferred from Electronic Annotation
more info
 
multicellular organism growth IEA
Inferred from Electronic Annotation
more info
 
negative regulation of cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of epithelial cell proliferation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of extrinsic apoptotic signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of integrin biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of transcription by RNA polymerase II IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of MAPK cascade IEA
Inferred from Electronic Annotation
more info
 
positive regulation of NF-kappaB transcription factor activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of cell differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of cell proliferation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of epithelial cell proliferation involved in prostate gland development IEA
Inferred from Electronic Annotation
more info
 
positive regulation of gene expression IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of insulin-like growth factor receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
positive regulation of integrin biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of intracellular estrogen receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
positive regulation of phosphorylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription by RNA polymerase II IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of transcription by RNA polymerase III IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
prostate gland development NAS
Non-traceable Author Statement
more info
PubMed 
prostate gland epithelium morphogenesis IEA
Inferred from Electronic Annotation
more info
 
prostate gland growth IEA
Inferred from Electronic Annotation
more info
 
protein complex oligomerization IDA
Inferred from Direct Assay
more info
PubMed 
protein deubiquitination TAS
Traceable Author Statement
more info
 
regulation of catalytic activity IEA
Inferred from Electronic Annotation
more info
 
regulation of developmental growth IEA
Inferred from Electronic Annotation
more info
 
regulation of protein localization to plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
regulation of systemic arterial blood pressure IEA
Inferred from Electronic Annotation
more info
 
seminiferous tubule development IEA
Inferred from Electronic Annotation
more info
 
sex differentiation NAS
Non-traceable Author Statement
more info
PubMed 
signal transduction TAS
Traceable Author Statement
more info
PubMed 
single fertilization IEA
Inferred from Electronic Annotation
more info
 
spermatogenesis IEA
Inferred from Electronic Annotation
more info
 
tertiary branching involved in mammary gland duct morphogenesis IEA
Inferred from Electronic Annotation
more info
 
transcription initiation from RNA polymerase II promoter TAS
Traceable Author Statement
more info
 
transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
nuclear chromatin IDA
Inferred from Direct Assay
more info
PubMed 
nuclear speck IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IEA
Inferred from Electronic Annotation
more info
 
protein-containing complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
androgen receptor
Names
dihydrotestosterone receptor
nuclear receptor subfamily 3 group C member 4

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_009014.2 RefSeqGene

    Range
    5592..191588
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000044.4NP_000035.2  androgen receptor isoform 1

    See identical proteins and their annotated locations for NP_000035.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1, also known as AR-FL in PMID:20823238) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AA505591, AF321915, AL356358, BC132975, M20132, M23263
    Consensus CDS
    CCDS14387.1
    UniProtKB/Swiss-Prot
    P10275
    UniProtKB/TrEMBL
    Q9NUA2
    Related
    ENSP00000363822.3, ENST00000374690.8
    Conserved Domains (3) summary
    cd07073
    Location:673918
    NR_LBD_AR; Ligand binding domain of the nuclear receptor androgen receptor, ligand activated transcription regulator
    cd07173
    Location:555636
    NR_DBD_AR; DNA-binding domain of androgen receptor (AR) is composed of two C4-type zinc fingers
    pfam02166
    Location:6449
    Androgen_recep; Androgen receptor
  2. NM_001011645.3NP_001011645.1  androgen receptor isoform 2

    See identical proteins and their annotated locations for NP_001011645.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2, also known as AR45 in PMID:15634333) contains an alternate exon in the 5' region and initiates translation at an alternate start codon compared to variant 1. The encoded isoform (2) has a distinct and shorter N-terminus than isoform 1.
    Source sequence(s)
    AA505591, AF321915, AL049564, AL356358, BC132975, M20132, M23263
    Consensus CDS
    CCDS43965.1
    UniProtKB/Swiss-Prot
    P10275
    UniProtKB/TrEMBL
    F1D8N5, Q9NUA2
    Related
    ENSP00000379358.2, ENST00000396043.2
    Conserved Domains (2) summary
    cd07073
    Location:141386
    NR_LBD_AR; Ligand binding domain of the nuclear receptor androgen receptor, ligand activated transcription regulator
    cd07173
    Location:23104
    NR_DBD_AR; DNA-binding domain of androgen receptor (AR) is composed of two C4-type zinc fingers
  3. NM_001348061.1NP_001334990.1  androgen receptor isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3, also known as AR-V7 in PMID:19117982 and AR3 in PMID:19244107) lacks multiple exons and includes an alternate 3' terminal exon, compared to variant 1. The encoded isoform (3) has a distinct and shorter C-terminus than isoform 1. This variant has been shown to be expressed at higher levels in castration-resistant prostate cancer samples (PMID:20823238).
    Source sequence(s)
    AF321915, AL356358, BC132975, FJ235916, M23263
    Consensus CDS
    CCDS87754.1
    UniProtKB/Swiss-Prot
    P10275
    UniProtKB/TrEMBL
    Q9NUA2
    Related
    ENSP00000421155.1, ENST00000504326.5
    Conserved Domains (2) summary
    cd07173
    Location:555630
    NR_DBD_AR; DNA-binding domain of androgen receptor (AR) is composed of two C4-type zinc fingers
    pfam02166
    Location:6449
    Androgen_recep; Androgen receptor
  4. NM_001348063.1NP_001334992.1  androgen receptor isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4, also known as AR-V1 in PMID:20823238 and AR4 in PMID:19244107) lacks multiple exons and includes an alternate 3' terminal exon, compared to variant 1. The encoded isoform (4) has a distinct and shorter C-terminus than isoform 1.
    Source sequence(s)
    AF321915, AL356358, BC132975, FJ235917, M23263
    UniProtKB/Swiss-Prot
    P10275
    UniProtKB/TrEMBL
    Q9NUA2
    Conserved Domains (2) summary
    cd07173
    Location:555629
    NR_DBD_AR; DNA-binding domain of androgen receptor (AR) is composed of two C4-type zinc fingers
    pfam02166
    Location:6449
    Androgen_recep; Androgen receptor
  5. NM_001348064.1NP_001334993.1  androgen receptor isoform 5

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5, also known as AR8 in PMID:21878636) lacks alternate exons in the central and 3' coding regions, uses an alternate splice site, resulting in a frameshift, and contains an alternate 3' terminal exon, compared to variant 1. The encoded isoform (5) has a distinct and shorter C-terminus than isoform 1. Although this variant is predicted to be a candidate for nonsense-mediated mRNA decay (NMD), Western blot data with variant-specific antibodies in PMID:21878636 indicate that it is translated.
    Source sequence(s)
    AF321915, AL356358, BC132975, FJ235916, HM055487, M23263
    Consensus CDS
    CCDS87755.1
    UniProtKB/Swiss-Prot
    P10275
    UniProtKB/TrEMBL
    A0A087WUX9, G4VV16, Q9NUA2
    Related
    ENSP00000479013.1, ENST00000613054.2
    Conserved Domains (1) summary
    pfam02166
    Location:6449
    Androgen_recep; Androgen receptor

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p12 Primary Assembly

    Range
    67544623..67730619
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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