NCKAP5
Homo sapiens
Gene Name: NCK-associated protein 5
Aliases: ERIH1, ERIH2, NAP5
Chromosome No: 2
Chromosome Band: 2q21.2
Genetic Category: Rare single gene variant
Aliases: ERIH1, ERIH2, NAP5
Chromosome No: 2
Chromosome Band: 2q21.2
Genetic Category: Rare single gene variant
Summary Statistics:
ASD Reports: 3
Recent Reports: 0
Annotated variants: 10
Associated CNVs: 6
Evidence score: 2
ASD Reports: 3
Recent Reports: 0
Annotated variants: 10
Associated CNVs: 6
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
Two novel overlapping CNVs involving the NCKAP5 gene were identified in unrelated ASD cases (Prasad et al., 2012).
Molecular Function
Interacts with the SH3-containing region of the adapter protein Nck, which associates with tyrosine-phosphorylated growth factor receptors or their cellular substrates.
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
