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Aliases for AR Gene

Aliases for AR Gene

  • Androgen Receptor 2 3
  • Dihydrotestosterone Receptor 2 3 4
  • DHTR 3 4 6
  • Nuclear Receptor Subfamily 3 Group C Member 4 3 4
  • HYSP1 3 6
  • SMAX1 3 6
  • NR3C4 3 4
  • SBMA 3 6
  • TFM 3 6
  • KD 3 6
  • Androgen Nuclear Receptor Variant 2 3
  • Spinal And Bulbar Muscular Atrophy 2
  • Testicular Feminization 2
  • Kennedy Disease 2
  • HUMARA 3
  • AIS 3

External Ids for AR Gene

Previous HGNC Symbols for AR Gene

  • DHTR
  • SBMA

Previous GeneCards Identifiers for AR Gene

  • GC0XP062984
  • GC0XP064229
  • GC0XP064997
  • GC0XP065630
  • GC0XP066546
  • GC0XP066680
  • GC0XP066763
  • GC0XP060592

Summaries for AR Gene

Entrez Gene Summary for AR Gene

  • 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]

GeneCards Summary for AR Gene

AR (Androgen Receptor) is a Protein Coding gene. Diseases associated with AR include prostate cancer and hypospadias 1, x-linked. Among its related pathways are Pathways in cancer and Akt Signaling. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and chromatin binding. An important paralog of this gene is NR3C1.

UniProtKB/Swiss-Prot for AR Gene

  • Steroid hormone receptors are ligand-activated transcription factors that regulate eukaryotic gene expression and affect cellular proliferation and differentiation in target tissues. Transcription factor activity is modulated by bound coactivator and corepressor proteins. Transcription activation is down-regulated by NR0B2. Activated, but not phosphorylated, by HIPK3 and ZIPK/DAPK3.

Tocris Summary for AR Gene

  • Androgen receptors (ARs) (also known as dihydrotestosterone receptors) are nuclear hormone receptors of the NR3C class, which also includes mineralocorticoid, progesterone and glucocorticoid receptors. They are expressed in bone marrow, mammary gland, prostate, testicular and muscle tissues where they exist as dimers coupled to Hsp90 and HMGB proteins, which are shed upon ligand binding. Activated androgen receptors bind to nuclear response elements of the genome, with an inverted palindromic 15 nucleotide sequence, to regulate gene transcription. Androgen receptors also effect gene expression through interaction with transcription factors including AP-1, NF-kappaB and STAT. Target genes of androgen receptors include insulin-like growth factor 1 (IGF-1) and genes involved in the development of primary and secondary male sexual characteristics, maintenance of sexual function and possibly have a causative role in aggressive behavior. Furthermore, androgen receptors have recently been shown to have actions that are independent of DNA interactions. Congential mutations in androgen receptors are associated with androgen insensitivity syndromes, virility and spinal and bulbar muscular atrophy. Perturbations in androgen receptor expression is also a common feature of prostate cancer. The human gene encoding the androgen receptor has been localized to Xq11-12.

Gene Wiki entry for AR Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AR Gene

Genomics for AR Gene

Regulatory Elements for AR Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for AR Gene

67,544,032 bp from pter
67,730,619 bp from pter
186,588 bases
Plus strand

Genomic View for AR Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for AR Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AR Gene

Proteins for AR Gene

  • Protein details for AR Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Androgen receptor
    Protein Accession:
    Secondary Accessions:
    • A2RUN2
    • B1AKD7
    • Q9UD95

    Protein attributes for AR Gene

    919 amino acids
    Molecular mass:
    98989 Da
    Quaternary structure:
    • Binds DNA as a homodimer. Part of a ternary complex containing AR, EFCAB6/DJBP and PARK7. Interacts with HIPK3 and NR0B2 in the presence of androgen. The ligand binding domain interacts with KAT7/HBO1 in the presence of dihydrotestosterone. Interacts with EFCAB6/DJBP, PELP1, PQBP1, RANBP9, RBAK, SPDEF, SRA1, TGFB1I1, ZNF318 and RREB1. Interacts with ZMIZ1/ZIMP10 and ZMIZ2/ZMIP7 which both enhance its transactivation activity. Interacts with SLC30A9 and RAD54L2/ARIP4. Interacts via the ligand-binding domain with LXXLL and FXXLF motifs from NCOA1, NCOA2, NCOA3, NCOA4 and MAGEA11. The AR N-terminal poly-Gln region binds Ran resulting in enhancement of AR-mediated transactivation. Ran-binding decreases as the poly-Gln length increases. Interacts with HIP1 (via coiled coil domain). Interacts (via ligand-binding domain) with TRIM68. Interacts with TNK2. Interacts with USP26. Interacts with RNF6. Interacts (regulated by RNF6 probably through polyubiquitination) with RNF14; regulates AR transcriptional activity. Interacts with PRMT2 and TRIM24. Interacts with GNB2L1/RACK1. Interacts with RANBP10; this interaction enhances dihydrotestosterone-induced AR transcriptional activity. Interacts with PRPF6 in a hormone-independent way; this interaction enhances dihydrotestosterone-induced AR transcriptional activity. Interacts with STK4/MST1. Interacts with ZIPK/DAPK3. Interacts with LPXN. Interacts with MAK. Part of a complex containing AR, MAK and NCOA3. Interacts with CRY1.
    • In the absence of ligand, steroid hormone receptors are thought to be weakly associated with nuclear components; hormone binding greatly increases receptor affinity. The hormone-receptor complex appears to recognize discrete DNA sequences upstream of transcriptional start sites
    • The level of tyrosine phosphorylation may serve as a diagnostic tool to predict patient outcome in response to hormone-ablation therapy. Inhibition of tyrosine phosphorylation may be an effective intervention target for hormone-refractory prostate cancer
    • Transcriptional activity is enhanced by binding to RANBP9

    Three dimensional structures from OCA and Proteopedia for AR Gene

    Alternative splice isoforms for AR Gene


neXtProt entry for AR Gene

Proteomics data for AR Gene at MOPED

Post-translational modifications for AR Gene

  • Palmitoylated by ZDHHC7 and ZDHHC21. Palmitoylation is required for plasma membrane targeting and for rapid intracellular signaling via ERK and AKT kinases and cAMP generation.
  • Phosphorylated in prostate cancer cells in response to several growth factors including EGF. Phosphorylation is induced by c-Src kinase (CSK). Tyr-534 is one of the major phosphorylation sites and an increase in phosphorylation and Src kinase activity is associated with prostate cancer progression. Phosphorylation by TNK2 enhances the DNA-binding and transcriptional activity and may be responsible for androgen-independent progression of prostate cancer. Phosphorylation at Ser-81 by CDK9 regulates AR promoter selectivity and cell growth. Phosphorylation by PAK6 leads to AR-mediated transcription inhibition.
  • Sumoylated on Lys-386 (major) and Lys-520. Ubiquitinated. Deubiquitinated by USP26. Lys-6 and Lys-27-linked polyubiquitination by RNF6 modulates AR transcriptional activity and specificity.
  • Ubiquitination at Lys845 and Lys847
  • Modification sites at PhosphoSitePlus

Other Protein References for AR Gene

Antibody Products

  • R&D Systems Antibodies for AR (Androgen R/NR3C4)
  • Cell Signaling Technology (CST) Antibodies for AR (AR)

No data available for DME Specific Peptides for AR Gene

Domains for AR Gene

Gene Families for AR Gene

  • NR :Nuclear hormone receptors

Graphical View of Domain Structure for InterPro Entry



  • P10275
  • Composed of three domains: a modulating N-terminal domain, a DNA-binding domain and a C-terminal ligand-binding domain. In the presence of bound steroid the ligand-binding domain interacts with the N-terminal modulating domain, and thereby activates AR transcription factor activity. Agonist binding is required for dimerization and binding to target DNA. The transcription factor activity of the complex formed by ligand-activated AR and DNA is modulated by interactions with coactivator and corepressor proteins. Interaction with RANBP9 is mediated by both the N-terminal domain and the DNA-binding domain. Interaction with EFCAB6/DJBP is mediated by the DNA-binding domain
  • Contains 1 nuclear receptor DNA-binding domain.
  • Belongs to the nuclear hormone receptor family. NR3 subfamily.
genes like me logo Genes that share domains with AR: view

Function for AR Gene

Molecular function for AR Gene

GENATLAS Biochemistry:
androgen receptor,steroid/thyroid hormone,receptor superfamily
UniProtKB/Swiss-Prot EnzymeRegulation:
AIM-100 (4-amino-5,6-biaryl-furo[2,3-d]pyrimidine) suppresses TNK2-mediated phosphorylation at Tyr-267. Inhibits the binding of the Tyr-267 phosphorylated form to androgen-responsive enhancers (AREs) and its transcriptional activity.
UniProtKB/Swiss-Prot Function:
Steroid hormone receptors are ligand-activated transcription factors that regulate eukaryotic gene expression and affect cellular proliferation and differentiation in target tissues. Transcription factor activity is modulated by bound coactivator and corepressor proteins. Transcription activation is down-regulated by NR0B2. Activated, but not phosphorylated, by HIPK3 and ZIPK/DAPK3.

Gene Ontology (GO) - Molecular Function for AR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding IDA 16728402
GO:0001077 RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription IDA 16728402
GO:0001085 RNA polymerase II transcription factor binding IPI 16120611
GO:0003677 DNA binding NAS 10075738
GO:0003682 chromatin binding IDA 21730289
genes like me logo Genes that share ontologies with AR: view
genes like me logo Genes that share phenotypes with AR: view

Animal Models for AR Gene

MGI Knock Outs for AR:
  • Ar tm1.1Jdz
  • Ar tm1.1Reb
  • Ar tm1.1Verh
  • Ar tm1.1Chc
  • Ar tm1Ska

Animal Model Products

miRNA for AR Gene

Targeting motifs for AR Gene
HOMER Transcription Factor Regulatory Elements motif AR
  • Consensus sequence: AGAACAGNCTGTTCTT Submotif: canonical Cell Type: LNCAP GeoId: GSE27824

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for AR

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) and Transcription Factor Targeting for AR Gene

Localization for AR Gene

Subcellular locations from UniProtKB/Swiss-Prot for AR Gene

Nucleus. Cytoplasm. Note=Predominantly cytoplasmic in unligated form but translocates to the nucleus upon ligand-binding. Can also translocate to the nucleus in unligated form in the presence of GNB2L1.

Subcellular locations from

Jensen Localization Image for AR Gene COMPARTMENTS Subcellular localization image for AR gene
Compartment Confidence
nucleus 5
cytosol 3
cytoskeleton 2
extracellular 2
mitochondrion 2
plasma membrane 2
endoplasmic reticulum 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for AR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin IDA 17277772
GO:0005634 nucleus IDA 15572661
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IDA 15572661
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with AR: view

Pathways for AR Gene

genes like me logo Genes that share pathways with AR: view

PCR Array Products

Gene Ontology (GO) - Biological Process for AR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001701 in utero embryonic development --
GO:0003073 regulation of systemic arterial blood pressure --
GO:0003382 epithelial cell morphogenesis --
GO:0006351 transcription, DNA-templated IDA 15572661
GO:0006355 regulation of transcription, DNA-templated --
genes like me logo Genes that share ontologies with AR: view

Compounds for AR Gene

Compound Products

(5) Tocris Compounds for AR Gene

Compound Action Cas Number
Bicalutamide Non-steroidal androgen receptor antagonist [90357-06-5]
Cl-4AS-1 Steroidal androgen receptor agonist [188589-66-4]
Flutamide Non-steroidal androgen receptor antagonist [13311-84-7]
Testosterone Endogenous androgen receptor agonist [58-22-0]
TFM-4AS-1 Selective androgen receptor modulator (SARM) [188589-61-9]

(14) ApexBio Compounds for AR Gene

Compound Action Cas Number
Andarine Androgen receptor agonist [401900-40-1]
ARN-509 Androgen receptor inhibitor [956104-40-8]
ASC-J9 "AR degradation enhancer,antiumor agent" [52328-98-0]
AZD3514 Androgen receptor downregulator [1240299-33-5]
Bicalutamide Androgen receptor antagonist [90357-06-5]
Cyproterone Acetate Androgen receptor antagonist [427-51-0]
Epiandrosterone [481-29-8]
Estradiol valerate [979-32-8]
Flutamide [13311-84-7]
MDV3100 (Enzalutamide) Androgen receptor antagonist [915087-33-1]
MK-2866 (GTx-024) Selective androgen receptor modulator [841205-47-8]
Spironolactone [1952-1-7]
TAK-700 (Orteronel) "Human 17,20-lyase inhibitor" [426219-18-3]
TOK-001 CYP17 inhibitor and androgen receptor (AR) antagonist [851983-85-2]

(6) HMDB Compounds for AR Gene

Compound Synonyms Cas Number PubMed IDs
  • (4)-Androsten-3,17-dione
  • (3R,5S,8R,9S,10S,13S,14S)-3-hydroxy-10,13-dimethyl-1,2,3,4,5,6,7,8,9,11,12,14,15,16-tetradecahydrocyclopenta[a]phenanthren-17-one
  • 17-Hydroxy-androstan-3-one
  • Finasterida
  • (17-beta)-17-Hydroxyestr-4-en-3-one

(8) IUPHAR Ligand for AR Gene

Ligand Type Action Affinity Pubmed IDs
dihydrotestosterone Agonist Agonist 9.3
mibolerone Agonist Agonist 8.96
nilutamide Antagonist Antagonist 7.12
hydroxyflutamide Antagonist Antagonist 6.6
methyltrienolone Agonist Agonist 5
[3H]dihydrotestosterone Agonist Agonist
[3H]mibolerone Agonist Agonist
[3H]R1881 Agonist Agonist

(132) Novoseek inferred chemical compound relationships for AR Gene

Compound -log(P) Hits PubMed IDs
testosterone 96.6 464
dihydrotestosterone 92.4 187
bicalutamide 92.4 121
hydroxyflutamide 92.3 73
r1881 85.8 24
genes like me logo Genes that share compounds with AR: view

Transcripts for AR Gene

Unigene Clusters for AR Gene

Androgen receptor:
Representative Sequences:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for AR

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for AR Gene

No ASD Table

Relevant External Links for AR Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for AR Gene

mRNA expression in normal human tissues for AR Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for AR Gene

This gene is overexpressed in Liver (5.6).

Protein differential expression in normal tissues for AR Gene

This gene is overexpressed in Liver (60.5).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for AR Gene

SOURCE GeneReport for Unigene cluster for AR Gene Hs.76704

mRNA Expression by UniProt/SwissProt for AR Gene

Tissue specificity: Isoform 2 is mainly expressed in heart and skeletal muscle.
genes like me logo Genes that share expressions with AR: view

Expression partners for AR Gene

In Situ Assay Products

Orthologs for AR Gene

This gene was present in the common ancestor of chordates.

Orthologs for AR Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia AR 35
  • 90.43 (n)
  • 92.66 (a)
AR 36
  • 92 (a)
(Canis familiaris)
Mammalia AR 35
  • 89.11 (n)
  • 92.12 (a)
AR 36
  • 91 (a)
(Mus musculus)
Mammalia Ar 35
  • 87.88 (n)
  • 89.13 (a)
Ar 16
Ar 36
  • 88 (a)
(Rattus norvegicus)
Mammalia Ar 35
  • 88.05 (n)
  • 89.82 (a)
(Monodelphis domestica)
Mammalia AR 36
  • 80 (a)
(Pan troglodytes)
Mammalia AR 36
  • 96 (a)
(Gallus gallus)
Aves AR 35
  • 70.8 (n)
  • 71.14 (a)
AR 36
  • 71 (a)
(Anolis carolinensis)
Reptilia AR 36
  • 91 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia ar 35
  • 67.45 (n)
  • 68.64 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.426 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12054 35
(Danio rerio)
Actinopterygii ar 36
  • 41 (a)
Species with no ortholog for AR:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for AR Gene

Gene Tree for AR (if available)
Gene Tree for AR (if available)

Paralogs for AR Gene

Paralogs for AR Gene

genes like me logo Genes that share paralogs with AR: view

Variants for AR Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for AR Gene

The poly-Gln region of AR is highly polymorphic and the number of Gln varies in the population (from 17 to 26). A smaller size of the poly-Gln region may be associated with the development of prostate cancer

Sequence variations from dbSNP and Humsavar for AR Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type MAF
rs6152 -- 67,545,785(+) AGGGA(A/G)GCCTC synonymous-codon, reference
rs6153 -- 67,722,894(+) GAACT(C/T)GATCG reference, synonymous-codon
rs6154 -- 67,643,382(+) TGCAA(A/G)GTCTT synonymous-codon, reference
rs7440 -- 67,729,880(+) TTAGC(C/T)CTTGG utr-variant-3-prime
rs10060 -- 67,729,873(-) CTAAG(A/G)TTGTG utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for AR Gene

Variant ID Type Subtype PubMed ID
esv1584074 OTHER Inversion 17803354
essv22087 CNV CNV 17122850
dgv2450e1 CNV Complex 17122850
nsv818030 CNV Gain 17921354
esv2740196 CNV Deletion 23290073

Relevant External Links for AR Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)
Locus Specific Mutation Databases (LSDB)

PCR Panel Products

Disorders for AR Gene

(5) OMIM Diseases for AR Gene (313700)


  • Androgen insensitivity syndrome (AIS) [MIM:300068]: An X-linked recessive form of pseudohermaphroditism due end-organ resistance to androgen. Affected males have female external genitalia, female breast development, blind vagina, absent uterus and female adnexa, and abdominal or inguinal testes, despite a normal 46,XY karyotype. {ECO:0000269 PubMed:10022458, ECO:0000269 PubMed:10221692, ECO:0000269 PubMed:10221770, ECO:0000269 PubMed:10404311, ECO:0000269 PubMed:10458483, ECO:0000269 PubMed:10571951, ECO:0000269 PubMed:10590024, ECO:0000269 PubMed:10690872, ECO:0000269 PubMed:11587068, ECO:0000269 PubMed:11744994, ECO:0000269 PubMed:1307250, ECO:0000269 PubMed:1316540, ECO:0000269 PubMed:1426313, ECO:0000269 PubMed:1430233, ECO:0000269 PubMed:1464650, ECO:0000269 PubMed:1480178, ECO:0000269 PubMed:1487249, ECO:0000269 PubMed:1569163, ECO:0000269 PubMed:1609793, ECO:0000269 PubMed:1775137, ECO:0000269 PubMed:1999491, ECO:0000269 PubMed:2082179, ECO:0000269 PubMed:2594783, ECO:0000269 PubMed:7537149, ECO:0000269 PubMed:7581399, ECO:0000269 PubMed:7633398, ECO:0000269 PubMed:7641413, ECO:0000269 PubMed:7671849, ECO:0000269 PubMed:7929841, ECO:0000269 PubMed:7962294, ECO:0000269 PubMed:7970939, ECO:0000269 PubMed:7981687, ECO:0000269 PubMed:7981689, ECO:0000269 PubMed:7993455, ECO:0000269 PubMed:8040309, ECO:0000269 PubMed:8096390, ECO:0000269 PubMed:8103398, ECO:0000269 PubMed:8162033, ECO:0000269 PubMed:8224266, ECO:0000269 PubMed:8281140, ECO:0000269 PubMed:8325950, ECO:0000269 PubMed:8413310, ECO:0000269 PubMed:8446106, ECO:0000269 PubMed:8626869, ECO:0000269 PubMed:8647313, ECO:0000269 PubMed:8683794, ECO:0000269 PubMed:8723113, ECO:0000269 PubMed:8768864, ECO:0000269 PubMed:8809734, ECO:0000269 PubMed:8830623, ECO:0000269 PubMed:8918984, ECO:0000269 PubMed:8990010, ECO:0000269 PubMed:9001799, ECO:0000269 PubMed:9007482, ECO:0000269 PubMed:9039340, ECO:0000269 PubMed:9106550, ECO:0000269 PubMed:9160185, ECO:0000269 PubMed:9252933, ECO:0000269 PubMed:9255042, ECO:0000269 PubMed:9302173, ECO:0000269 PubMed:9328206, ECO:0000269 PubMed:9544375, ECO:0000269 PubMed:9554754, ECO:0000269 PubMed:9610419, ECO:0000269 PubMed:9627582, ECO:0000269 PubMed:9698822, ECO:0000269 PubMed:9788719, ECO:0000269 PubMed:9851768, ECO:0000269 PubMed:9856504, ECO:0000269 Ref.108, ECO:0000269 Ref.174}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Spinal and bulbar muscular atrophy X-linked 1 (SMAX1) [MIM:313200]: An X-linked recessive form of spinal muscular atrophy. Spinal muscular atrophy refers to a group of neuromuscular disorders characterized by degeneration of the anterior horn cells of the spinal cord, leading to symmetrical muscle weakness and atrophy. SMAX1 occurs only in men. Age at onset is usually in the third to fifth decade of life, but earlier involvement has been reported. It is characterized by slowly progressive limb and bulbar muscle weakness with fasciculations, muscle atrophy, and gynecomastia. The disorder is clinically similar to classic forms of autosomal spinal muscular atrophy. {ECO:0000269 PubMed:15851746}. Note=The disease is caused by mutations affecting the gene represented in this entry. Caused by trinucleotide CAG repeat expansion. In SMAX1 patients the number of Gln ranges from 38 to 62. Longer expansions result in earlier onset and more severe clinical manifestations of the disease.
  • Note=Defects in AR may play a role in metastatic prostate cancer. The mutated receptor stimulates prostate growth and metastases development despite of androgen ablation. This treatment can reduce primary and metastatic lesions probably by inducing apoptosis of tumor cells when they express the wild-type receptor.
  • Androgen insensitivity, partial (PAIS) [MIM:312300]: A disorder that is characterized by hypospadias, hypogonadism, gynecomastia, genital ambiguity, normal XY karyotype, and a pedigree pattern consistent with X-linked recessive inheritance. Some patients present azoospermia or severe oligospermia without other clinical manifestations. {ECO:0000269 PubMed:10022458, ECO:0000269 PubMed:10221692, ECO:0000269 PubMed:10470409, ECO:0000269 PubMed:10502786, ECO:0000269 PubMed:10543676, ECO:0000269 PubMed:11587068, ECO:0000269 PubMed:1303262, ECO:0000269 PubMed:1307250, ECO:0000269 PubMed:1316540, ECO:0000269 PubMed:1424203, ECO:0000269 PubMed:1430233, ECO:0000269 PubMed:2010552, ECO:0000269 PubMed:7581399, ECO:0000269 PubMed:7649358, ECO:0000269 PubMed:7671849, ECO:0000269 PubMed:7909256, ECO:0000269 PubMed:7910529, ECO:0000269 PubMed:7929841, ECO:0000269 PubMed:7970939, ECO:0000269 PubMed:7981687, ECO:0000269 PubMed:8033918, ECO:0000269 PubMed:8097257, ECO:0000269 PubMed:8126121, ECO:0000269 PubMed:8205256, ECO:0000269 PubMed:8281139, ECO:0000269 PubMed:8325932, ECO:0000269 PubMed:8325950, ECO:0000269 PubMed:8446106, ECO:0000269 PubMed:8550758, ECO:0000269 PubMed:8809734, ECO:0000269 PubMed:8823308, ECO:0000269 PubMed:8824883, ECO:0000269 PubMed:9039340, ECO:0000269 PubMed:9196614, ECO:0000269 PubMed:9302173, ECO:0000269 PubMed:9329414, ECO:0000269 PubMed:9543136, ECO:0000269 PubMed:9607727, ECO:0000269 PubMed:9768671, ECO:0000269 PubMed:9856504, ECO:0000269 Ref.116}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(95) Novoseek inferred disease relationships for AR Gene

Disease -log(P) Hits PubMed IDs
prostate cancer 93.3 384
androgen insensitivity syndrome 93.2 87
androgen insensitivity syndrome partial 90.5 20
androgen insensitivity syndrome complete 87.5 38
kennedy disease 86.5 30

Relevant External Links for AR

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Tumor Gene Database (TGDB):
genes like me logo Genes that share disorders with AR: view

No data available for Genatlas for AR Gene

Publications for AR Gene

  1. Mutations in the androgen receptor gene are associated with progression of human prostate cancer to androgen independence. (PMID: 9816170) Tilley W.D. … Bentel J.M. (Clin. Cancer Res. 1996) 3 4 23 48
  2. Trafficking of androgen receptor mutants fused to green fluorescent protein: a new investigation of partial androgen insensitivity syndrome. (PMID: 9768671) Georget V. … Sultan C. (J. Clin. Endocrinol. Metab. 1998) 3 4 23
  3. Cloning and characterization of androgen receptor coactivator, ARA55, in human prostate. (PMID: 10075738) Fujimoto N. … Chang C. (J. Biol. Chem. 1999) 3 4 23
  4. Screening for mutations in candidate genes for hypospadias. (PMID: 10092153) Nordenskjoeld A. … Anvret M. (Urol. Res. 1999) 3 4 23
  5. Androgen receptor gene mutations in 46,XY females with germ cell tumours. (PMID: 10221692) Chen C.P. … Jeng C.J. (Hum. Reprod. 1999) 3 4 23

Products for AR Gene

  • Addgene plasmids for AR

Sources for AR Gene

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