CIB2
Homo sapiens
Gene Name: Calcium and integrin binding family member 2
Aliases: DFNB48, KIP2, USH1J
Chromosome No: 15
Chromosome Band: 15q25.1
Genetic Category: Rare single gene variant
Aliases: DFNB48, KIP2, USH1J
Chromosome No: 15
Chromosome Band: 15q25.1
Genetic Category: Rare single gene variant
Summary Statistics:
ASD Reports: 2
Recent Reports: 0
Annotated variants: 4
Associated CNVs: 7
Evidence score: 0
ASD Reports: 2
Recent Reports: 0
Annotated variants: 4
Associated CNVs: 7
Evidence score: 0
| Associated Disorders: |
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Relevance to Autism
Three novel overlapping CNVs involving the CIB2 gene were identified in unrelated ASD cases (Prasad et al., 2012).
Molecular Function
The protein encoded by this gene is similar to that of KIP/CIB, calcineurin B, and calmodulin. The encoded protein is a calcium-binding regulatory protein that interacts with DNA-dependent protein kinase catalytic subunits (DNA-PKcs), and it is involved in photoreceptor cell maintenance.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
ASD
Support
Mutational Landscape of Autism Spectrum Disorder Brain Tissue
ASD
