DGKZ
Homo sapiens
Gene Name: diacylglycerol kinase zeta
Aliases: DAGK5, DAGK6, DGK-ZETA, hDGKzeta
Chromosome No: 11
Chromosome Band: 11p11.2
Genetic Category: Rare single gene variant
Aliases: DAGK5, DAGK6, DGK-ZETA, hDGKzeta
Chromosome No: 11
Chromosome Band: 11p11.2
Genetic Category: Rare single gene variant
Summary Statistics:
ASD Reports: 3
Recent Reports: 0
Annotated variants: 5
Associated CNVs: 4
Evidence score: 2
ASD Reports: 3
Recent Reports: 0
Annotated variants: 5
Associated CNVs: 4
Evidence score: 2
| Associated Disorders: |
|
Relevance to Autism
This gene was originally identified as an ASD candidate gene based on its enrichment in an autism-associated protein interaction module; sequencing of post-mortem brain tissue from 25 ASD cases resulted in the identification of significant non-synonymous variants in this gene with an expected false-positive rate at 0.1, confirming the involvement of this module with autism (Li et al., 2014).
Molecular Function
The protein encoded by this gene belongs to the eukaryotic diacylglycerol kinase family. It may attenuate protein kinase C activity by regulating diacylglycerol levels in intracellular signaling cascade and signal transduction.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Integrated systems analysis reveals a molecular network underlying autism spectrum disorders.
ASD
Support
Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnose...
Multiple congenital anomalies
