Aliases for AR Gene
External Ids for AR Gene
Previous HGNC Symbols for AR Gene
Previous GeneCards Identifiers 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 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]
GeneCards Summary for AR Gene
AR (Androgen Receptor) is a Protein Coding gene. Diseases associated with AR include Androgen Insensitivity, Partial and Spinal And Bulbar Muscular Atrophy, X-Linked 1. Among its related pathways are Metabolism of proteins and Gene Expression. Gene Ontology (GO) annotations related to this gene include DNA binding transcription factor activity and chromatin binding. An important paralog of this gene is NR3C2.
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.
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.