Summary:
The androgen receptor gene is more than 90 kb long and codes for a protein that has 3 major functional domains: the N-terminal domain, DNA-binding domain, and androgen-binding domain. The protein functions as a steroid-hormone activated transcription factor. Upon binding the hormone ligand, the receptor dissociates from accessory proteins, translocates into the nucleus, dimerizes, and then stimulates transcription of androgen responsive genes. This gene contains 2 polymorphic trinucleotide repeat segments that encode polyglutamine and polyglycine tracts in the N-terminal transactivation domain of its protein. Expansion of the polyglutamine tract causes spinal bulbar muscular atrophy (Kennedy disease). Mutations in this gene are also associated with complete androgen insensitivity (CAIS). Two alternatively spliced variants encoding distinct isoforms have been described. [provided by RefSeq] (PubMed Links)
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| Domains and Motifs:
CC: Coiled Coil ZnF_C4: c4 zinc finger in nuclear hormone receptors HOLI: Ligand binding domain of hormone receptors
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Gene Ontology:
KEGG - Enzyme ID(s): KEGG - Orthology:
K08557
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Nomenclature / Alternative Names:
Androgen receptor isoform 2; Dihydrotestosterone receptor; DHTR; KD; AIS; TFM; SBMA; NR3C4; SMAX1; HUMARA; Androgen receptor isoform 1; OTTHUMP00000061928
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Approved Symbol:
| (De-) Phosphorylations:
Phosphorylation Targets:
Total phosphorylation targets: 0 |
Human phosphorylation targets: 0; | Predicted platelet targets: 0 |
| Protein Characteristics:
| Associated Drugs (DrugBank Accession):
(2r)-N-[4-Cyano-3-(Trifluoromethyl)Phenyl]-3-[(4-Fluorophenyl)Sulfonyl]-2-Hydroxy-2-Methylpropanamide(db); (2S)-2-hydroxy-2-methyl-N-[4-nitro-3-(trifluoromethyl)phenyl]-3-(pentafluorophenoxy)propanamide(db); (2S)-3-(4-chloro-3-fluorophenoxy)-N-[4-cyano-3-(trifluoromethyl)phenyl]-2-hydroxy-2-methylpropanamide(db); (2S)-3-[4-(acetylamino)phenoxy]-2-hydroxy-2-methyl-N-[4-nitro-3-(trifluoromethyl)phenyl]propanamide(db); (2S)-N-(4-cyano-3-iodophenyl)-3-(4-cyanophenoxy)-2-hydroxy-2-methylpropanamide(db); (3AALPHA,4ALPHA,7ALPHA,7AALPHA)- 3A,4,7,7A-TETRAHYDRO-2-(4-NITRO-1-NAPHTHALENYL)-4,7-ETHANO-1H-ISOINDOLE-1,3(2H)-DIONE(db); (5S,8R,9S,10S,13R,14S,17S)-13-{2-[(3,5-DIFLUOROBENZYL)OXY]ETHYL}-17-HYDROXY-10-METHYLHEXADECAHYDRO-3H-CYCLOPENTA[A]PHENANTHREN-3-ONE(db); (R)-3-BROMO-2-HYDROXY-2-METHYL-N-[4-NITRO-3-(TRIFLUOROMETHYL)PHENYL]PROPANAMIDE(db); 1-TERT-BUTYL-3-(2,5-DIMETHYLBENZYL)-1H-PYRAZOLO[3,4-D]PYRIMIDIN-4-AMINE(db); 17-HYDROXY-18A-HOMO-19-NOR-17ALPHA-PREGNA-4,9,11-TRIEN-3-ONE(db); 2-CHLORO-4-[(7R,7AS)-7-HYDROXY-1,3-DIOXOTETRAHYDRO-1H-PYRROLO[1,2-C]IMIDAZOL-2(3H)-YL]-3-METHYLBENZONITRILE(db); 2-chloro-4-{[(1R,3Z,7S,7aS)-7-hydroxy-1-(trifluoromethyl)tetrahydro-1H-pyrrolo[1,2-c][1,3]oxazol-3-ylidene]amino}-3-methylbenzonitrile(db); 3-[(4-AMINO-1-TERT-BUTYL-1H-PYRAZOLO[3,4-D]PYRIMIDIN-3-YL)METHYL]PHENOL(db); 4-[(7R,7AS)-7-HYDROXY-1,3-DIOXOTETRAHYDRO-1H-PYRROLO[1,2-C]IMIDAZOL-2(3H)-YL]-1-NAPHTHONITRILE(db); 4-{[(1R,2S)-1,2-dihydroxy-2-methyl-3-(4-nitrophenoxy)propyl]amino}-2-(trifluoromethyl)benzonitrile(db); 6-[BIS(2,2,2-TRIFLUOROETHYL)AMINO]-4-(TRIFLUOROMETHYL)QUINOLIN-2(1H)-ONE(db); 9alpha-Fluorocortisol(db); Bicalutamide(db); Boldenone(db); Calusterone(db); Cyproterone(db); Danazol(db); Delta1-dihydrotestosterone(db); Dihydrotestosterone(db); Dromostanolone(db); Drospirenone(db); Flufenamic Acid(db); Fluoxymesterone(db); Flutamide(db); Levonorgestrel(db); Methyltestosterone(db); Methyltrienolone(db); Nandrolone decanoate(db); Nandrolone phenpropionate(db); Nilutamide(db); Oxandrolone(db); S-3-(4-FLUOROPHENOXY)-2-HYDROXY-2-METHYL-N-[4-NITRO-3-(TRIFLUOROMETHYL)PHENYL]PROPANAMIDE(db); Spironolactone(db); Testosterone(db); Testosterone Propionate(db)
Associated Genetic Diseases:
Androgen insensitivity syndrome(Pd); Androgen insensitivity, complete(Pd); Androgen insensitivity, partial(Pd); Breast cancer, male, with reifenstein syndrome(Pd); Hypospadias, isolated distal penile shaft(Pd); Hypospadias, perineal(Pd); Prostate cancer(Pd); Prostate cancer susceptibility(Pd); Spinal and bulbar muscular atrophy, X-linked(Pd)
| Predicted Transmembrane Domains:
Isoform 2 : 0 Isoform 1 : 0
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| Additional Identifiers:
HPRD: | 02437 | | Entrez Gene ID: | 367 | | OMIM ID: | 313700 | | Swissprot Accession: | P10275; Q9NUA2; | | |
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