HELP     Sign In
Search

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

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN675R001 
 missense_variant 
 c.3458A>G 
 p.Gln1153Arg 
 Unknown 
  
 Unknown 
 GEN675R002 
 missense_variant;missense_variant 
  
 p.[Phe560Ser];[Phe560Ser] 
 Unknown 
  
 Unknown 

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
11
Deletion-Duplication
 15
 
11
Duplication
 1
 
11
Deletion
 2
 
11
Deletion
 2
 

No Animal Model Data Available


Interactor Symbol Interactor Name Interactor Organism Entrez ID Uniprot ID Interaction Type Evidence Reference
TOP3B topoisomerase (DNA) III beta 8940 O95985 HITS-CLIP
Xu D , et al. 2013
Dlg2 discs, large homolog 2 (Drosophila) 23859 Q91XM9 IP/WB
Lee D , et al. 2015
DMD dystrophin, muscular dystrophy 13405 P11531 IP/WB
Hogan A , et al. 2001
Prkca protein kinase C, alpha 18750 P20444 IP/WB
Lee D , et al. 2015

HELP
Copyright © 2017 MindSpec, Inc.