Aliases:
Chromosome No: 11
Chromosome Band: 11q14.1
Genetic Category: Rare single gene variant
ASD Reports: 2
Recent Reports: 0
Annotated variants: 5
Associated CNVs: 5
Evidence score: 2
| Associated Disorders: |
|
Relevance to Autism
GAB2 was identified as an ASD candidate gene in Wilfert et al., 2021 based on the discovery of private likely gene-disruptive (LGD) variants in this highly constrained (pLI 0.99) gene that were exclusively transmitted to four ASD probands in four independent families. A de novo missense variant in this gene had previously been identified in an ASD proband from the Autism Sequencing Consortium (Satterstrom et al., 2021).
Molecular Function
This gene is a member of the GRB2-associated binding protein (GAB) gene family. These proteins contain pleckstrin homology (PH) domain, and bind SHP2 tyrosine phosphatase and GRB2 adapter protein. They act as adapters for transmitting various signals in response to stimuli through cytokine and growth factor receptors, and T- and B-cell antigen receptors. The protein encoded by this gene is the principal activator of phosphatidylinositol-3 kinase in response to activation of the high affinity IgE receptor.
External Links
