Aliases: CLIP, CLIP-115, CYLN2, WBSCR3, WBSCR4, WSCR3, WSCR4
Chromosome No: 7
Chromosome Band: 7q11.23
Genetic Category: Genetic association
ASD Reports: 1
Recent Reports: 0
Annotated variants: 2
Associated CNVs: 6
Evidence score: null
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Relevance to Autism
Quantitative GWAS analysis of 2,509 ASD probands from a German cohort and the Autism Genome Project in Yousaf et al., 2020 identified two intronic SNPs in the CLIP2 gene (rs34459814 and rs34083004) that each reached genome-wide significance for association with the Social Interaction subdomain of the Autism Diagnostic Interview-Revised (ADI-R) (P-values 2.5E-08 and 3.7E-08, respectively).
Molecular Function
The protein encoded by this gene belongs to the family of cytoplasmic linker proteins, which have been proposed to mediate the interaction between specific membranous organelles and microtubules. This protein was found to associate with both microtubules and an organelle called the dendritic lamellar body. This gene is hemizygously deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23.
External Links
