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AR androgen receptor

Gene ID: 367, updated on 29-Jan-2023
Gene type: protein coding
Also known as: KD; AIS; AR8; TFM; DHTR; SBMA; HYSP1; NR3C4; SMAX1; HUMARA

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

DescriptionTests
Androgen resistance syndromeSee labs
Genome-wide association analysis of metabolic traits in a birth cohort from a founder population.
GeneReviews: Not available
Hypospadias 1, X-linked
MedGen: C2678098OMIM: 300633GeneReviews: Not available
See labs
Kennedy diseaseSee labs
Male-pattern baldness susceptibility locus at 20p11.
GeneReviews: Not available
Malignant tumor of prostate
MedGen: C0376358OMIM: 176807GeneReviews: Not available
See labs
Partial androgen insensitivity syndrome
MedGen: C0268301OMIM: 312300GeneReviews: Not available
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 Page
Haploinsufficency

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

Links

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