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AR androgen receptor [ Homo sapiens (human) ]

Gene ID: 367, updated on 23-Nov-2014
Official Symbol
ARprovided by HGNC
Official Full Name
androgen receptorprovided by HGNC
Primary source
HGNC:HGNC:644
Locus tag
RP11-383C12.1
See related
Ensembl:ENSG00000169083; HPRD:02437; MIM:313700; Vega:OTTHUMG00000021740
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; 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 causes spinal bulbar muscular atrophy (Kennedy disease). Mutations in this gene are also associated with complete androgen insensitivity (CAIS). Two alternatively spliced variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]
Location:
Xq12
Exon count:
9
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) X NC_000023.11 (67544032..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 BMI1 proto-oncogene, polycomb ring finger pseudogene 1 Neighboring gene oligophrenin 1 Neighboring gene phosphoglycerate kinase 1, pseudogene 1

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Androgen resistance syndrome Compare labs
Bulbo-spinal atrophy X-linked Compare labs
Malignant tumor of prostate
MedGen: C0376358 OMIM: 176807 GeneReviews: Not available
Compare labs
Reifenstein syndrome
MedGen: C0268301 OMIM: 312300 GeneReviews: Not available
Compare labs
X-linked hypospadias 1
MedGen: C2678098 OMIM: 300633 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
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding NAS
Non-traceable Author Statement
more info
PubMed 
RNA polymerase II core promoter proximal region sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription IDA
Inferred from Direct Assay
more info
PubMed 
RNA polymerase II transcription factor binding IPI
Inferred from Physical Interaction
more info
PubMed 
androgen binding NAS
Non-traceable Author Statement
more info
PubMed 
androgen receptor activity IDA
Inferred from Direct Assay
more info
PubMed 
androgen receptor activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
androgen receptor activity NAS
Non-traceable Author Statement
more info
PubMed 
androgen receptor activity TAS
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 
ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein dimerization activity NAS
Non-traceable Author Statement
more info
PubMed 
receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
sequence-specific DNA binding transcription factor 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
androgen receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
cell growth NAS
Non-traceable Author Statement
more info
PubMed 
cell proliferation NAS
Non-traceable Author Statement
more info
PubMed 
cell-cell signaling TAS
Traceable Author Statement
more info
PubMed 
gene expression TAS
Traceable Author Statement
more info
 
intracellular receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
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 
positive regulation of NF-kappaB transcription factor activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of cell proliferation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of integrin biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of phosphorylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of transcription from RNA polymerase II promoter IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription from RNA polymerase II promoter IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of transcription from RNA polymerase III promoter 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 
protein oligomerization IDA
Inferred from Direct Assay
more info
PubMed 
regulation of establishment of protein localization to plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
sex differentiation NAS
Non-traceable Author Statement
more info
PubMed 
signal transduction TAS
Traceable Author Statement
more info
PubMed 
steroid hormone mediated signaling pathway 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 
transport TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
nuclear chromatin IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
protein complex IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
androgen receptor
Names
androgen receptor
dihydrotestosterone receptor
androgen nuclear receptor variant 2
nuclear receptor subfamily 3 group C member 4

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 

    Range
    5001..191588
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000044.3NP_000035.2  androgen receptor isoform 1

    See proteins identical to NP_000035.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AI352339, AL049564, AL356358, L29496
    Consensus CDS
    CCDS14387.1
    UniProtKB/Swiss-Prot
    P10275
    Related
    ENSP00000363822, OTTHUMP00000023450, ENST00000374690, OTTHUMT00000057007
    Conserved Domains (3) summary
    pfam02166
    Location:6449
    Androgen_recep; Androgen receptor
    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
  2. NM_001011645.2NP_001011645.1  androgen receptor isoform 2

    See proteins identical to NP_001011645.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and coding region, compared to variant 1. The resulting isoform (2), also referred to as AR45, is shorter, and has a distinct and shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AI352339, AL049564, AL356358, L29496
    Consensus CDS
    CCDS43965.1
    UniProtKB/TrEMBL
    F1D8N5
    UniProtKB/Swiss-Prot
    P10275
    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

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Alternate HuRef

Genomic

  1. AC_000155.1 

    Range
    60592006..60778929
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000023.11 

    Range
    67544032..67730619
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018934.2 

    Range
    66656369..66842989
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)