CIBAR2
Homo sapiens
Gene Name: CBY1 interacting BAR domain containing 2
Aliases: FAM92B
Chromosome No: 16
Chromosome Band: 16q24.1
Genetic Category: Rare single gene variant
Aliases: FAM92B
Chromosome No: 16
Chromosome Band: 16q24.1
Genetic Category: Rare single gene variant
Summary Statistics:
ASD Reports: 3
Recent Reports: 0
Annotated variants: 3
Associated CNVs: 2
Evidence score: 2
ASD Reports: 3
Recent Reports: 0
Annotated variants: 3
Associated CNVs: 2
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
Two de novo missense variants in the CIBAR2 gene (formerly known as the FAM92B gene) have been identified in ASD probands from the Simons Simplex Collection, with no de novo events in this gene observed in 1,786 unaffected siblings (P=7.96 x 10-3) (Iossifov et al., 2014; Krumm et al., 2015).
Molecular Function
The protein encoded by this gene may play a role in ciliogenesis (by similarity) and, in cooperation with CBY1, may facilitate ciliogenesis likely by the recruitment and fusion of endosomal vesicles at distal appendages during early stages of ciliogenesis.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Support
Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder.
ASD
Support
The contribution of de novo coding mutations to autism spectrum disorder
ASD