VSIG4
Homo sapiens
Gene Name: V-set and immunoglobulin domain containing 4
Aliases: CRIg, Z39IG
Chromosome No: X
Chromosome Band: Xq12
Genetic Category: Rare single gene variant
Aliases: CRIg, Z39IG
Chromosome No: X
Chromosome Band: Xq12
Genetic Category: Rare single gene variant
Summary Statistics:
ASD Reports: 3
Recent Reports: 0
Annotated variants: 3
Associated CNVs: 8
Evidence score: 2
ASD Reports: 3
Recent Reports: 0
Annotated variants: 3
Associated CNVs: 8
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
A maternally-inherited nonsense variant in the VSIG4 gene was identified in a pair of affected monozygotic twins from a multiplex ASD family; this variant was not observed in an unaffected male sibling (Lim et al., 2013). A de novo splice-site variant in this gene has also been observed in an ASD proband from the Simons Simplex Collection (Iossifov et al., 2014).
Molecular Function
This gene encodes a v-set and immunoglobulin-domain containing protein that is structurally related to the B7 family of immune regulatory proteins. The encoded protein may be a negative regulator of T-cell responses.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders.
ASD
Support
The contribution of de novo coding mutations to autism spectrum disorder
ASD
