DGKD Chromosome 2
Diacylglycerol kinase delta
Upload your DNA to see your personal genotypes for variants in DGKD.
What This Gene Does
This gene encodes a cytoplasmic enzyme that phosphorylates diacylglycerol to produce phosphatidic acid. Diacylglycerol and phosphatidic acid are two lipids that act as second messengers in signaling cascades. Their cellular concentrations are regulated by the encoded protein, and so it is thought to play an important role in cellular signal transduction. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Pleckstrin homology domain containing|Sterile alpha motif domain containing|Diacylglycerol kinases"
Locus Type
gene with protein product
Location
2q37.1
Ensembl
ENSG00000077044
Associated Conditions (1)
DGKD-related disorder
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS147134923 | Health Risk | Conflicting classifications of pathogenicity | DGKD-related disorder, DGKD-related disorder |
| RS747669327 | Health Risk | Conflicting classifications of pathogenicity | — |