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    AR androgen receptor [ Homo sapiens (human) ]

    Gene ID: 367, updated on 29-Jan-2023

    Summary

    Official Symbol
    ARprovided by HGNC
    Official Full Name
    androgen receptorprovided by HGNC
    Primary source
    HGNC:HGNC:644
    See related
    Ensembl:ENSG00000169083 MIM:313700; AllianceGenome:HGNC:644
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Location:
    Xq12
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    110 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (67544021..67730619)
    110 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (65973852..66160479)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (66763863..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 Sharpr-MPRA regulatory region 14511 Neighboring gene negative expression of androgen receptor regulating lncRNA 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Androgen resistance syndrome Compare labs
    Hypospadias 1, X-linked
    MedGen: C2678098 OMIM: 300633 GeneReviews: Not available
    Compare labs
    Kennedy disease 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 2020-12-08)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2020-12-08)

    ClinGen Genome Curation PagePubMed

    EBI GWAS Catalog

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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

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

    NEW Try the new Transcript table

    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
      4990..191588
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1406

    mRNA and Protein(s)

    1. NM_000044.6NP_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, AL049564, AL356358, BC132975, M20132
      Consensus CDS
      CCDS14387.1
      UniProtKB/Swiss-Prot
      P10275, Q9UD95
      UniProtKB/TrEMBL
      Q9NUA2
      Related
      ENSP00000363822.3, ENST00000374690.9
      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
      UniProtKB/Swiss-Prot
      P10275
      UniProtKB/TrEMBL
      F1D8N5, Q9NUA2
      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
      Related
      ENST00000513847.5
      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 110 details...Open this link in a new tab

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      67544021..67730619
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      65973852..66160479
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)