Skip to content
Use your HSA or FSA funds

Gene

AR

androgen receptor

Summary

Cytogenetic location
Xq12
Coordinates
Chromosome X: 67,544,021–67,730,619 (GRCh38)
Exons
8 exons across 186.6 kb
Protein
920 amino acids
Inheritance
X-linked recessive
Also known as
AIS, NR3C4, SMAX1, HUMARA
Previous symbols
DHTR, SBMA
MANE Select transcript
ENST00000374690.9NM_000044.6
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated reports relevant to this gene

  • 46,XY Differences of Sex Development and Gonadal Dysgenesis

    • 46,XY differences of sex development

      Conditions in people with XY chromosomes in which gonadal or genital development is atypical, caused by variants in genes such as SRD5A2, HSD17B3, NR5A1, MAP3K1, DHH, WT1, CYP11A1 and LHCGR.

      • 6 GenCC submitters rate it definitive or strong
      What knowing changes

      Diagnosis informs hormone treatment, fertility counselling and, where dysgenetic gonads carry Y material, assessment of gonadal tumour risk.

  • Androgen Insensitivity Syndrome

    • Androgen insensitivity syndrome (complete and partial)X-linked recessive

      A difference of sex development caused by variants in the androgen receptor gene AR, ranging from complete insensitivity (typical female appearance) to partial forms with ambiguous genitalia or undervirilisation.

      • 6 GenCC submitters rate it definitive or strong
      What knowing changes

      Diagnosis informs hormone management and decisions on the timing of gonad removal, and a carrier mother has a 50% chance of passing the variant to each XY child.

  • Spinal and Bulbar Muscular Atrophy (Kennedy Disease)

    • X-linked recessive

      A slowly progressive motor neuronopathy caused by an expanded CAG repeat in the androgen receptor (AR) gene, with limb and bulbar weakness and mild androgen insensitivity.

      • ClinGen rates the link definitive
      • 5 GenCC submitters rate it definitive or strong
      What knowing changes

      Physiotherapy, speech and swallowing assessment, endocrine follow-up, and genetic counselling for female relatives who may be carriers.

Inheritance

X-linked recessive
The change is on the X chromosome, so one copy affects males, who have one X, while females with one are usually carriers. A carrier mother passes it on to each child with a one-in-two chance.

How AR is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome X, with a bracket where AR sits. AR and 1 gene near it on chromosome X, from 67,137,320 to 68,137,319.Chromosome XXq12p22.33p22.32p22.31p22.2p22.13p22.12p22.11p21.3p21.2p21.1p11.4p11.3p11.23p11.22p11.21p11.1q11.1q11.2q12q13.1q13.2q13.3q21.1q21.2q21.31q21.32q21.33q22.1q22.2q22.3q23q24q25q26.1q26.2q26.3q27.1q27.2q27.3q2867.2 Mb67.4 Mb67.6 Mb67.8 Mb68 MbAR: 67,544,021–67,730,619, forward strandAROPHN1: 67,949,349–68,434,120, reverse strandOPHN1Diagram of AR: 8 exons on the forward strand of chromosome XExon 1: 68 known disease-causing sitesExon 2: 16 known disease-causing sitesExon 3: 16 known disease-causing sitesExon 4: 27 known disease-causing sitesExon 5: 26 known disease-causing sitesExon 6: 14 known disease-causing sitesExon 7: 20 known disease-causing sitesExon 8: 13 known disease-causing sitesExon 1: 67,544,021–67,546,762, 2,742 basesExon 2: 67,643,256–67,643,407, 152 basesExon 3: 67,686,010–67,686,126, 117 basesExon 4: 67,711,402–67,711,689, 288 basesExon 5: 67,717,478–67,717,622, 145 basesExon 6: 67,721,833–67,721,963, 131 basesExon 7: 67,722,827–67,722,984, 158 basesExon 8: 67,723,686–67,730,619, 6,934 bases124685′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 10.7 kb of the gene's 186.6 kb; 2,763 of those bases code for the protein.

How a genome test reads AR

209

positions in AR where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 186.6 kb of AR, introns included, not only the 10.7 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). AR gene: androgen receptor. Retrieved 17 October 2026, from https://dantelabs.com/genes/ar

Vancouver

Dante Labs. AR gene: androgen receptor [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/ar

One test. A lifetime of answers.

From $449Free shipping · Results in 6–8 weeks

Get my Genome Test