DIPK2A
Homo sapiens
Gene Name: divergent protein kinase domain 2A
Aliases: C3orf58, DIA1, GoPro49, HASF
Chromosome No: 3
Chromosome Band: 3q24
Genetic Category: Rare Single Gene variant-
Aliases: C3orf58, DIA1, GoPro49, HASF
Chromosome No: 3
Chromosome Band: 3q24
Genetic Category: Rare Single Gene variant-
Summary Statistics:
ASD Reports: 3
Recent Reports: 1
Annotated variants: 3
Associated CNVs: 1
Evidence score: null
ASD Reports: 3
Recent Reports: 1
Annotated variants: 3
Associated CNVs: 1
Evidence score: null
| Associated Disorders: |
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Relevance to Autism
Rare variants in the DIPK2A gene (previously known as the C3orf58 gene) have been identified with autism in the HMCA cohort (Morrow et al., 2008).
Molecular Function
May play a role in cardiomyocyte proliferation through paracrine signaling and activation of the PPI3K-AKT-CDK7 signaling cascade.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Identifying autism loci and genes by tracing recent shared ancestry.
ASD
Support
Identification of candidate intergenic risk loci in autism spectrum disorder.
ASD
Recent Recommendation
A novel predicted calcium-regulated kinase family implicated in neurological disorders.