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    AR androgen receptor [ Homo sapiens (human) ]

    Gene ID: 367, updated on 18-Jul-2017
    Official Symbol
    ARprovided by HGNC
    Official Full Name
    androgen receptorprovided by HGNC
    Primary source
    HGNC:HGNC:644
    See related
    Ensembl:ENSG00000169083 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; 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]
    Orthologs
    Location:
    Xq12
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 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 uncharacterized LOC105373241 Neighboring gene BMI1 proto-oncogene, polycomb ring finger pseudogene 1

    • 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

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    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
    Reifenstein 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
    Products Interactant Other Gene Complex Source Pubs Description

    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 
    POU domain binding IEA
    Inferred from Electronic Annotation
    more info
     
    RNA polymerase II core promoter proximal region sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    RNA polymerase II transcription factor activity, ligand-activated 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 
    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 
    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 
    steroid binding IEA
    Inferred from Electronic Annotation
    more info
     
    transcription factor activity, sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transcription factor activity, sequence-specific DNA binding TAS
    Traceable Author Statement
    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 
    transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific 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 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 
    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 from RNA polymerase II promoter 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 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 
    prostate gland epithelium morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    prostate gland growth IEA
    Inferred from Electronic Annotation
    more info
     
    protein deubiquitination TAS
    Traceable Author Statement
    more info
     
    protein oligomerization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of catalytic activity IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of developmental growth IEA
    Inferred from Electronic Annotation
    more info
     
    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 
    transport TAS
    Traceable Author Statement
    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 complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    androgen receptor
    Names
    dihydrotestosterone receptor
    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 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, OTTHUMP00000023450, ENST00000374690.8, OTTHUMT00000057007
      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, OTTHUMP00000217211, ENST00000396043.2, OTTHUMT00000358619
      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
      UniProtKB/Swiss-Prot
      P10275
      UniProtKB/TrEMBL
      Q9NUA2
    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
    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
      UniProtKB/Swiss-Prot
      P10275
      UniProtKB/TrEMBL
      A0A087WUX9, G4VV16, Q9NUA2

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p7 Primary Assembly

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

    Alternate CHM1_1.1

    Genomic

    1. NC_018934.2 Alternate CHM1_1.1

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