ITGA4
Homo sapiens
Gene Name: integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)
Aliases: IA4; CD49D; MGC90518; ITGA4
Chromosome No: 2
Chromosome Band: 2q31.3
Genetic Category: Genetic Association--Rare single gene variant
Aliases: IA4; CD49D; MGC90518; ITGA4
Chromosome No: 2
Chromosome Band: 2q31.3
Genetic Category: Genetic Association--Rare single gene variant
Summary Statistics:
ASD Reports: 7
Recent Reports: 2
Annotated variants: 11
Associated CNVs: 9
Evidence score: 2
ASD Reports: 7
Recent Reports: 2
Annotated variants: 11
Associated CNVs: 9
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
Studies have found genetic association between the ITGA4 gene and autism in several population cohorts. In addition, genetic association has been found between the ITGA4 gene and multiple sclerosis in Spanish (Basque) and Nordic cohorts.
Molecular Function
Cell adhesion molecules
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
An analysis of candidate autism loci on chromosome 2q24-q33: evidence for association to the STK39 gene.
ASD
Positive Association
Fine mapping and association studies in a candidate region for autism on chromosome 2q31-q32.
ASD
Positive Association
Association of the alpha4 integrin subunit gene (ITGA4) with autism.
ASD
Support
Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes
ASD
Recent Recommendation
Guanylate binding protein-1 inhibits spreading and migration of endothelial cells through induction of integrin alpha4 expression.
Recent Recommendation
ITGA4 polymorphisms and susceptibility to multiple sclerosis.
MS
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN136R002
frameshift_variant
c.2990_2991del
p.Tyr997CysfsTer9
Familial
Maternal
Multiplex
Common
Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
GEN136C002
5KB_downstream_variant
rs3770112
c.1922+1039G>A
N/A
Multiple cohorts
Discovery
GEN136C003
synonymous_variant
rs1143674
c.1845A>G
p.(=)
Multiple cohorts
Discovery
GEN136C004
intron_variant
rs3770137
c.319+3092C>G
N/A
Multiple cohorts
Discovery
GEN136C005
intron_variant
rs3770116
c.1695+1139G>T
N/A
Multiple cohorts
Discovery
GEN136C006
intron_variant
rs2305581
c.2249+326T>C
N/A
Multiple cohorts
Discovery
GEN136C009
intron_variant
rs2305586
c.1385+39T>C
N/A
Multiple cohorts
Discovery
