Androgen Receptor

Alternative Names

  • AR; Dihydrotestosterone Receptor
  • DHTR
  • Nuclear Receptor Subfamily 3, Group C, Member 4
  • NR3C4
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OMIM Number

313700

NCBI Gene ID

367

Uniprot ID

P10275

Length

186,588 bases

No. of Exons

11

No. of isoforms

4

Protein Name

Androgen receptor

Molecular Mass

99188 Da

Amino Acid Count

920

Genomic Location

chrX:67,544,032-67,730,619

Gene Map Locus
Xq12

Description

AR gene encodes androgen receptor protein (AR). It is a nuclear transcription factor which is activated by binding to the male sex steroids (the androgen hormones) and helps direct the development of male sexual characteristics. 

More than 300 mutations in the AR gene have been identified in patients with androgen insensitivity syndrome. It was also found at least 85 mutations in the AR gene have been associated with prostate cancer. Almost all of these mutations are somatic. Moreover, it was found that polymorphisms in the AR gene are also associated with androgenetic alopecia.

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_000044.3:c.1617-3C>GLebanonNC_000023.11:g.67643253C>GLikely PathogenicAndrogen Insensitivity SyndromeNG_009014.2:g.104222C>G; NM_000044.3:c.1617-3C>G; NP_000035.2:p.?
NM_000044.4:c.2413T>CEgyptNC_000023.11:g.67721927T>CPathogenicAndrogen Insensitivity SyndromeNG_009014.2:g.182896T>C ; NM_000044.4:c.2413T>C; NP_000035.2:p.Phe805Leu
NM_000044.4:c.2452C>GEgyptNC_000023.11:g.67722829C>GPathogenicAndrogen Insensitivity SyndromeNG_009014.2:g.183798C>G ; NM_000044.4:c.2452C>G ; NP_000035.2:p.Pro818Ala
NM_000044.4:c.2521C>A EgyptNC_000023.11:g.67722898C>APathogenicPathogenicAndrogen Insensitivity SyndromeNG_009014.2:g.183867C>A; NM_000044.4:c.2521C>A; NP_000035.2:p.Arg841Ser1378525779830
NM_000044.4:c.2567G>AKuwaitNC_000023.11:g.67722944G>APathogenicPathogenicAndrogen Insensitivity SyndromeNG_009014.2:g.183913G>A; NM_000044.4:c.2567G>A; NP_000035.2:p.Arg856His93329719823
NM_000044.4:c.2668G>AEgyptNC_000023.11:g.67723746G>APathogenicPathogenicAndrogen Insensitivity SyndromeNG_009014.2:g.184715G>A ; NM_000044.4:c.2668G>A ; NP_000035.2:p.Val890Met886041133279690
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