|
Summary Statistics:
ASD Reports: 6
Recent Reports: 3
Annotated variants: 3
Associated CNVs: 10
Evidence score: null
Gene Score: 4
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.
References
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
JHDM2A, a JmjC-containing H3K9 demethylase, facilitates transcription activation by androgen receptor.
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.
X
Deletion-Duplication
21
X
Deletion-Duplication
12
No Animal Model Data Available
Summary Statistics:
Total Interactions: 19
Total Publications: 16
ARR19 |
CKLF-like MARVEL transmembrane domain containing 2A |
|
73381
|
Q9DAR1
|
|
Y2H; GST; IP/WB
|
Jeong BC , et al. 2003
|
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
|
|