CXCR3
Homo sapiens
Gene Name: chemokine (C-X-C motif) receptor 3
Aliases: GPR9; MigR; CD182; CD183; Mig-R; CKR-L2; CMKAR3; IP10-R; CXCR3
Chromosome No: X
Chromosome Band: Xq13.1
Genetic Category: Rare Single Gene variant
Aliases: GPR9; MigR; CD182; CD183; Mig-R; CKR-L2; CMKAR3; IP10-R; CXCR3
Chromosome No: X
Chromosome Band: Xq13.1
Genetic Category: Rare Single Gene variant
Summary Statistics:
ASD Reports: 9
Recent Reports: 2
Annotated variants: 4
Associated CNVs: 8
Evidence score: 2
ASD Reports: 9
Recent Reports: 2
Annotated variants: 4
Associated CNVs: 8
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
Rare mutations in the CXCR3 gene have been identified with autism (Piton et al., 2011).
Molecular Function
A G protein-coupled receptor with selectivity for the chemokines IP10, Mig and I-TAC.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia.
ASD
SCZ
Support
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD
Support
Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders.
ASD
Support
Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism.
ASD
Highly Cited
An alternatively spliced variant of CXCR3 mediates the inhibition of endothelial cell growth induced by IP-10, Mig, and I-TAC, and acts as function...
Highly Cited
The chemokine receptors CXCR3 and CCR5 mark subsets of T cells associated with certain inflammatory reactions.
Highly Cited
CXCR3-dependent microglial recruitment is essential for dendrite loss after brain lesion.
Recent Recommendation
Unaltered neurological disease and mortality in CXCR3-deficient mice infected intracranially with lymphocytic choriomeningitis virus-Armstrong.
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN055R002
missense_variant
c.990G>T
p.Leu330=
Familial
Maternal
Extended multiplex
GEN055R004
frameshift_variant
c.101_102del
p.Glu34ValfsTer20
Familial
Maternal
Multiplex
Common
No Common Variants Available
