AR androgen receptor
Gene ID: 367, updated on 11-Oct-2024Gene type: protein coding
Also known as: KD; AIS; AR8; TFM; DHTR; SBMA; HYSP1; NR3C4; SMAX1; HUMARA
- See all available tests in GTR for this gene
- Go to complete Gene record for AR
- Go to Variation Viewer for AR variants
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Androgen resistance syndrome | See labs |
| Genome-wide association analysis of metabolic traits in a birth cohort from a founder population. GeneReviews: Not available | |
| Hypospadias 1, X-linked | See labs |
| Kennedy disease | See labs |
| Male-pattern baldness susceptibility locus at 20p11. GeneReviews: Not available | |
| Malignant tumor of prostate MedGen: C0376358GeneReviews: Not available | See labs |
| Partial androgen insensitivity syndrome | See labs |
| Seven prostate cancer susceptibility loci identified by a multi-stage genome-wide association study. GeneReviews: Not available | |
| Six novel susceptibility Loci for early-onset androgenetic alopecia and their unexpected association with common diseases. GeneReviews: Not available | |
| Susceptibility variants on chromosome 7p21.1 suggest HDAC9 as a new candidate gene for male-pattern baldness. GeneReviews: Not available |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2020-12-08) ClinGen Genome Curation PageHaploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2020-12-08) ClinGen Genome Curation PagePubMed |
Genomic context
- Location:
- Xq12
- Sequence:
- Chromosome: X; NC_000023.11 (67544021..67730619)
- Total number of exons:
- 11
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for AR variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ALSoD/AR genetic mutations
- AR @ LOVD
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- The Androgen Receptor Gene Mutations Database
- Variation ViewerRelated Variants
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