AR
Homo sapiens
Gene Name: androgen receptor
Aliases: KD; AIS; TFM; DHTR; SBMA; NR3C4; SMAX1; HUMARA; AR
Chromosome No: X
Chromosome Band: Xq12
Genetic Category: Genetic Association-Rare single gene variant-Functional
Aliases: KD; AIS; TFM; DHTR; SBMA; NR3C4; SMAX1; HUMARA; AR
Chromosome No: X
Chromosome Band: Xq12
Genetic Category: Genetic Association-Rare single gene variant-Functional
Summary Statistics:
ASD Reports: 10
Recent Reports: 3
Annotated variants: 8
Associated CNVs: 10
Evidence score: null
ASD Reports: 10
Recent Reports: 3
Annotated variants: 8
Associated CNVs: 10
Evidence score: null
| Associated Disorders: |
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Relevance to Autism
Genetic association has been found between the AR gene and autism (Henningsson et al., 2009).
Molecular Function
The protein functions as a steroid-hormone activated transcription factor.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Possible association between the androgen receptor gene and autism spectrum disorder.
ASD
Support
Role of androgen receptors in sexually dimorphic phenotypes in UBE3A-dependent autism spectrum disorder
ASD
Support
Unveiling genetic insights: Array-CGH and WES discoveries in a cohort of 122 children with essential autism spectrum disorder
ASD
Support
The genetic landscape of autism spectrum disorder in an ancestrally diverse cohort
ASD
Highly Cited
Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy.
Highly Cited
Sex differences in the brain: implications for explaining autism.
Recent Recommendation
Growth of white matter in the adolescent brain: role of testosterone and androgen receptor.
Recent Recommendation
The androgen receptor is selectively involved in organization of sexually dimorphic social behaviors in mice.
Recent Recommendation
JHDM2A, a JmjC-containing H3K9 demethylase, facilitates transcription activation by androgen receptor.
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN014R004
missense_variant
c.1219C>G
p.Arg407Gly
Familial
Maternal
Simplex
GEN014R005
inframe_insertion
c.170_171insGCA
p.Leu57_Gln58insGln
Familial
Maternal
Common
Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
GEN014C001
trinucleotide_repeat_microsatellite_feature
rs193922933
c.172_174CAG(10_36)
p.Gln69_Gln80del;p.Gln58_Gln79delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGln
PARIS, Swedish
Discovery
GEN014C002
synonymous_variant
rs6152
c.639G>A
p.(=)
PARIS, Swedish
Discovery
GEN014C003
trinucleotide_repeat_microsatellite_feature
c.1416_1418CGG[9][11][15][16][17]
p.Gly473_Glu474insGlyGlyGlyGlyGly
PARIS, Swedish
Discovery
