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Aliases for AR Gene

Aliases for AR Gene

  • Androgen Receptor 2 3 5
  • Dihydrotestosterone Receptor 2 3 4
  • Nuclear Receptor Subfamily 3 Group C Member 4 3 4
  • NR3C4 3 4
  • DHTR 3 4
  • Androgen Nuclear Receptor Variant 2 3
  • Androgen Receptor Splice Variant 4b 3
  • Spinal And Bulbar Muscular Atrophy 2
  • Testicular Feminization 2
  • Kennedy Disease 2
  • HUMARA 3
  • HYSP1 3
  • SMAX1 3
  • SBMA 3
  • AIS 3
  • AR8 3
  • TFM 3
  • KD 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 androgen insensitivity, partial, with or without breast cancer and spinal and bulbar muscular atrophy of kennedy. Among its related pathways are Oocyte meiosis and Pathways in cancer. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding 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.

  • Isoform 3 and isoform 4 lack the C-terminal ligand-binding domain and may therefore constitutively activate the transcription of a specific set of genes independently of steroid hormones.

Tocris Summary for AR Gene

  • Androgen receptors (ARs) (dihydrotestosterone receptors) are nuclear hormone receptors of the NR3C class, which includes mineralocorticoid, progesterone and glucocorticoid receptors. ARs are expressed in bone marrow, mammary gland and prostate tissues.

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

Enhancers for AR Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around AR on UCSC Golden Path with GeneCards custom track

Promoters for AR Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around AR on UCSC Golden Path with GeneCards custom track

Genomic Location for AR Gene

Chromosome:
X
Start:
67,544,032 bp from pter
End:
67,730,619 bp from pter
Size:
186,588 bases
Orientation:
Plus strand

Genomic View for AR Gene

Genes around AR on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AR Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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:
    P10275-ANDR_HUMAN
    Recommended name:
    Androgen receptor
    Protein Accession:
    P10275
    Secondary Accessions:
    • A0A0B4J1T2
    • A2RUN2
    • B1AKD7
    • C0JKD3
    • C0JKD4
    • E7EVX6
    • Q9UD95

    Protein attributes for AR Gene

    Size:
    920 amino acids
    Molecular mass:
    99188 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 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. Interacts with CCAR1 and GATA2.
    Miscellaneous:
    • 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

    UniProtKB/Swiss-Prot:

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-535 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-83 by CDK9 regulates AR promoter selectivity and cell growth. Phosphorylation by PAK6 leads to AR-mediated transcription inhibition.
  • Sumoylated on Lys-388 (major) and Lys-521. Ubiquitinated. Deubiquitinated by USP26. Lys-6 and Lys-27-linked polyubiquitination by RNF6 modulates AR transcriptional activity and specificity.
  • Ubiquitination at Lys 845 and Lys 847
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for AR Gene

Domains & Families for AR Gene

Gene Families for AR Gene

Protein Domains for AR Gene

Graphical View of Domain Structure for InterPro Entry

P10275

UniProtKB/Swiss-Prot:

ANDR_HUMAN :
  • 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.
  • Belongs to the nuclear hormone receptor family. NR3 subfamily.
Domain:
  • 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.
Family:
  • 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-269. Inhibits the binding of the Tyr-269 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.
UniProtKB/Swiss-Prot Function:
Isoform 3 and isoform 4 lack the C-terminal ligand-binding domain and may therefore constitutively activate the transcription of a specific set of genes independently of steroid hormones.

Gene Ontology (GO) - Molecular Function for AR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding IDA 16728402
GO:0005102 receptor binding IPI 11875111
GO:0008013 beta-catenin binding IDA,TAS 16344550
GO:0008134 transcription factor binding IPI 12799378
GO:0070974 POU domain binding IEA --
genes like me logo Genes that share ontologies with AR: view
genes like me logo Genes that share phenotypes with AR: view

Human Phenotype Ontology for AR Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for AR Gene

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

Animal Model Products

  • Taconic Biosciences Mouse Models for AR

miRNA for AR Gene

miRTarBase miRNAs that target AR
Targeted motifs for AR Gene
HOMER Transcription Factor Regulatory Elements motif AR
  • Consensus sequence: AGAACAGNCTGTTCTT Submotif: canonical Cell Type: LNCAP GEO ID: GSE27824

No data available for Enzyme Numbers (IUBMB) and Transcription Factor Targets 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 RACK1. {ECO:0000269 PubMed:12958311, ECO:0000269 PubMed:17587566}.

Subcellular locations from

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

No data available for Gene Ontology (GO) - Cellular Components for AR Gene

Pathways & Interactions for AR Gene

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

SIGNOR curated interactions for AR Gene

Activates:
Inactivates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for AR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001701 in utero embryonic development IEA --
GO:0003073 regulation of systemic arterial blood pressure IEA --
GO:0006367 transcription initiation from RNA polymerase II promoter TAS --
GO:0006810 transport TAS 10835690
GO:0007264 small GTPase mediated signal transduction TAS --
genes like me logo Genes that share ontologies with AR: view

Drugs & Compounds for AR Gene

(150) Drugs for AR Gene - From: DrugBank, ClinicalTrials, ApexBio, DGIdb, FDA Approved Drugs, IUPHAR, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Bicalutamide Approved Pharma antagonist, Target Androgen receptor antagonist, Non-steroidal androgen receptor antagonist 164
Nilutamide Approved Pharma Antagonist, antagonist, Target Androgen receptor antagonist. Orally active 10
Flutamide Approved Pharma antagonist, Target 61
Testosterone Approved, Investigational Pharma agonist, Target Endogenous androgen receptor agonist 519
Fluoxymesterone Approved, Illicit Pharma agonist, Target 0

(59) Additional Compounds for AR Gene - From: HMDB, Novoseek, IUPHAR, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
[<sup>3</sup>H]R1881
Agonist
Androsterone
  • (3alpha,5alpha)-3-hydroxy-Androstan-17-one
  • (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
  • 3-alpha-Hydroxy-17-androstanone
  • 3-alpha-Hydroxy-5-alpha-androstan-17-one
  • 3-alpha-Hydroxy-5-alpha-androstane-17-one
53-41-8
Cl-4AS-1
188589-66-4
PF 998425
1076225-27-8

(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
Nilutamide Androgen receptor antagonist. Orally active 63612-50-0
PF 998425 Non-steroidal androgen receptor antagonist 1076225-27-8
Testosterone Endogenous androgen receptor agonist 58-22-0

(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 1952-01-7
TAK-700 (Orteronel) Human 17,20-lyase inhibitor 426219-18-3
TOK-001 CYP17 inhibitor and androgen receptor (AR) antagonist 851983-85-2
genes like me logo Genes that share compounds with AR: view

Drug Products

Transcripts for AR Gene

Unigene Clusters for AR Gene

Androgen receptor:
Representative Sequences:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for AR

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
AR
ECgene alternative splicing isoforms for
AR

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 (x5.6).

Protein differential expression in normal tissues from HIPED for AR Gene

This gene is overexpressed in Liver (60.5).

Integrated Proteomics: protein expression in normal tissues and cell lines 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

P10275-ANDR_HUMAN
Tissue specificity: Isoform 2 is mainly expressed in heart and skeletal muscle (PubMed:15634333). Isoform 3 is expressed by basal and stromal cells of prostate (at protein level) (PubMed:19244107).
genes like me logo Genes that share expression patterns with AR: view

Protein tissue co-expression partners for AR Gene

- Elite partner

Primer Products

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
chimpanzee
(Pan troglodytes)
Mammalia AR 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ar 36
  • 88 (a)
OneToOne
Ar 16
Ar 35
  • 87.88 (n)
  • 89.13 (a)
oppossum
(Monodelphis domestica)
Mammalia AR 36
  • 80 (a)
OneToOne
dog
(Canis familiaris)
Mammalia AR 36
  • 91 (a)
OneToOne
AR 35
  • 89.11 (n)
  • 92.12 (a)
cow
(Bos Taurus)
Mammalia AR 36
  • 92 (a)
OneToOne
AR 35
  • 90.43 (n)
  • 92.66 (a)
rat
(Rattus norvegicus)
Mammalia Ar 35
  • 88.05 (n)
  • 89.82 (a)
chicken
(Gallus gallus)
Aves AR 36
  • 71 (a)
OneToOne
AR 35
  • 70.8 (n)
  • 71.14 (a)
lizard
(Anolis carolinensis)
Reptilia AR 36
  • 91 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.426 35
tropical clawed frog
(Silurana tropicalis)
Amphibia ar 35
  • 67.45 (n)
  • 68.64 (a)
zebrafish
(Danio rerio)
Actinopterygii ar 36
  • 41 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12054 35
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

ENSEMBL:
Gene Tree for AR (if available)
TreeFam:
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

P10275-ANDR_HUMAN
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
VAR_004679 Androgen insensitivity, partial (PAIS)
VAR_004680 Prostate cancer
VAR_004681 Prostate cancer
VAR_004684 Androgen insensitivity, partial (PAIS)
VAR_004685 Androgen insensitivity, partial (PAIS)

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

Variation tolerance for AR Gene

Residual Variation Intolerance Score: 67.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.54; 82.40% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for AR Gene

HapMap Linkage Disequilibrium report
AR
Human Gene Mutation Database (HGMD)
AR

Disorders for AR Gene

MalaCards: The human disease database

(73) MalaCards diseases for AR Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
androgen insensitivity, partial, with or without breast cancer
  • partial androgen insensitivity syndrome
spinal and bulbar muscular atrophy of kennedy
  • kennedy's disease
androgen insensitivity
  • androgen insensitivity syndrome
hypospadias 1, x-linked
  • hysp1
prostate cancer
  • prostate cancer, hereditary, 5
- elite association - COSMIC cancer census association via MalaCards
Search AR in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ANDR_HUMAN
  • 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.110, ECO:0000269 Ref.176}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • 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.118}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • 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.
  • 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.

Relevant External Links for AR

Genetic Association Database (GAD)
AR
Human Genome Epidemiology (HuGE) Navigator
AR
Tumor Gene Database (TGDB):
AR
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
AR
genes like me logo Genes that share disorders with AR: view

No data available for Genatlas for AR Gene

Publications for AR Gene

  1. Coactivator selective regulation of androgen receptor activity. (PMID: 19463689) Agoulnik I.U. … Weigel N.L. (Steroids 2009) 3 23 25 26
  2. Is the effect of testosterone on body composition modulated by the androgen receptor gene CAG repeat polymorphism in elderly men? (PMID: 17322500) Lapauw B. … Ruige J.B. (Eur. J. Endocrinol. 2007) 3 23 25 26
  3. Polymorphism of the androgen receptor gene is associated with male pattern baldness. (PMID: 11231320) Ellis J.A. … Harrap S.B. (J. Invest. Dermatol. 2001) 3 4 48 67
  4. An orally active selective androgen receptor modulator is efficacious on bone, muscle, and sex function with reduced impact on prostate. (PMID: 17023534) Miner J.N. … Negro-Vilar A. (Endocrinology 2007) 23 25 26
  5. Development of androgen- and estrogen-responsive bioassays, members of a panel of human cell line-based highly selective steroid-responsive bioassays. (PMID: 15483189) Sonneveld E. … van der Burg B. (Toxicol. Sci. 2005) 23 25 26

Products for AR Gene

  • Addgene plasmids for AR

Sources for AR Gene

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