DIPK2Adivergent protein kinase domain 2A
Autism Reports / Total Reports
2 / 3Rare Variants / Common Variants
3 / 0Aliases
DIPK2A, C3orf58, DIA1, GoPro49, HASFAssociated Syndromes
-Chromosome Band
3q24Associated Disorders
-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
SFARI Genomic Platforms
Reports related to DIPK2A (3 Reports)
| # | Type | Title | Author, Year | Autism Report | Associated Disorders |
|---|---|---|---|---|---|
| 1 | Primary | Identifying autism loci and genes by tracing recent shared ancestry | Morrow EM , et al. (2008) | Yes | - |
| 2 | Recent Recommendation | A novel predicted calcium-regulated kinase family implicated in neurological disorders | Dudkiewicz M , et al. (2013) | No | - |
| 3 | Support | Identification of candidate intergenic risk loci in autism spectrum disorder | Walker S and Scherer SW (2013) | Yes | - |
Rare Variants (3)
| Status | Allele Change | Residue Change | Variant Type | Inheritance Pattern | Parental Transmission | Family Type | PubMed ID | Author, Year |
|---|---|---|---|---|---|---|---|---|
| - | - | copy_number_loss | Familial | Both parents | Simplex | 18621663 | Morrow EM , et al. (2008) | |
| - | - | copy_number_loss | Familial | Paternal | Simplex | 23879678 | Walker S and Scherer SW (2013) | |
| - | - | copy_number_loss | Familial | Paternal | Multiplex | 23879678 | Walker S and Scherer SW (2013) |
Common Variants
No common variants reported.
SFARI Gene score
Strong Candidate
Rare variants in the DIPK2A gene (formerly known as C3orf58) have been identified in individuals with ASD, but no rigorous comparisons of cases and controls (Aziz et al., 2011; Morrow et al., 2008).
Score Delta: Score remained at 2
criteria met
See SFARI Gene'scoring criteriaWe considered a rigorous statistical comparison between cases and controls, yielding genome-wide statistical significance, with independent replication, to be the strongest possible evidence for a gene. These criteria were relaxed slightly for category 2.
4/1/2022
Decreased from 3 to 2
Description
Rare variants in the DIPK2A gene (formerly known as C3orf58) have been identified in individuals with ASD, but no rigorous comparisons of cases and controls (Aziz et al., 2011; Morrow et al., 2008).
10/1/2019
Increased from to 3
New Scoring Scheme
Description
Rare variants in the DIPK2A gene (formerly known as C3orf58) have been identified in individuals with ASD, but no rigorous comparisons of cases and controls (Aziz et al., 2011; Morrow et al., 2008).