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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
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

No Rare Variants Available

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 
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
X
Deletion
 1
 
X
Duplication
 1
 
X
Deletion
 1
 
X
Deletion-Duplication
 18
 
X
Duplication
 2
 
X
Deletion
 2
 
X
Duplication
 1
 
X
Deletion-Duplication
 10
 
X
Duplication
 2
 
X
Duplication
 1
 

No Animal Model Data Available


Interactor Symbol Interactor Name Interactor Organism Entrez ID Uniprot ID Interaction Type Evidence Reference
CHD8 chromodomain helicase DNA binding protein 8 57680 Q9HCK8 IP/WB
Menon T , et al. 2010
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa 1499 Q9WU82 IP/WB
Amir AL , et al. 2003
FOXG1 forkhead box G1 2290 P55316 Y2H; GST; Luciferase reporter assay
Obendorf M , et al. 2007
FOXP1 forkhead box P1 27086 Q9H334 ChIP
Takayama K , et al. 2008
GRIP1 glutamate receptor interacting protein 1 23426 Q9Y3R0 Y2H; IP/WB
Irvine RA , et al. 1999
HDAC4 histone deacetylase 4 9759 P56524 IP; Ni-NTA pull-down assay
Yang Y , et al. 2011
HOTAIR HOX transcript antisense RNA 100124700 in vitro binding assay; RNA immunoprecipitation (RIP)/qRT-PCR; IP/WB
Zhang A , et al. 2015
JMJD1C jumonji domain containing 1C 221037 Q15652 Y2H; GST
Wolf SS , et al. 2007
KDM5B lysine (K)-specific demethylase 5B 10765 Q9UGL1 in vitro methylation assay; IP/WB
Xiang Y , et al. 2007
KIF1A kinesin family member 1A 547 Q12756 Y2H
Corominas R , et al. 2014
MAGEA11 melanoma antigen family A11 4110 G5E962 Y2H
Corominas R , et al. 2014
MDM2 Mdm2, p53 E3 ubiquitin protein ligase homolog (mouse) 4193 Q00987 IP/WB
Zhang A , et al. 2015
NDE1 nudE nuclear distribution E homolog 1 (A. nidulans) 54820 Q9NXR1 Y2H
Corominas R , et al. 2014
NSD1 nuclear receptor binding SET domain protein 1 64324 Q96L73 Y2H; GST
Wang X , et al. 2001
PRKCB1 protein kinase C, beta 5579 P05771 ChIP; GST
Metzger E , et al. 2010
PTEN phosphatase and tensin homolog 5728 F6KD01 GST; IP/WB
Lin HK , et al. 2004
TSC2 tuberous sclerosis 2 7249 P49815 ChIP-Seq; Capillary gel electrophoresis (CGE)
Rajan P , et al. 2011
UBE3A ubiquitin protein ligase E3A 7337 Q05086 Luciferase reporter assay
Nawaz Z , et al. 1999
ARR19 CKLF-like MARVEL transmembrane domain containing 2A 73381 Q9DAR1 Y2H; GST; IP/WB
Jeong BC , et al. 2003

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