DGKK (Diacylglycerol Kinase Kappa)
A lipid kinase involved in spermatogenesis and male infertility
Gene Information Card
| Symbol | DGKK |
|---|---|
| Full Name | Diacylglycerol kinase kappa |
| Gene Type | Protein coding |
| Chromosomal Location | Xp22.2 |
| NCBI Gene ID | 139189 ncbi.nlm.nih.gov/gene/139189 |
| Ensembl ID | ENSG00000165272 |
| UniProt ID | Q5KSL6 |
| OMIM ID | 300874 |
| HGNC ID | 28595 |
| Aliases | DGK-kappa, DAG kinase kappa |
Description
DGKK encodes diacylglycerol kinase kappa, an enzyme that phosphorylates diacylglycerol (DAG) to phosphatidic acid (PA), thereby regulating intracellular lipid signaling. The gene is predominantly expressed in testis and is essential for normal spermatogenesis. Variants in DGKK are associated with X-linked male infertility.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility (X-linked) | Loss-of-function variants impair DAG/PA signaling in spermatogenesis, leading to spermatogenic failure | OMIM 300874, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 25.3 | High |
| Fallopian tube | 0.8 | Low |
| Prostate | 0.5 | Low |
| Other tissues | <0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Spermatocytes | 12.1 | High expression in germ cells |
| Sertoli cells | 1.2 | Moderate |
| Leydig cells | 0.6 | Low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.103C>T (p.Arg35*) | Nonsense | Rare | Premature stop, loss of function |
| c.497G>A (p.Arg166Gln) | Missense | Rare | Reduced kinase activity |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense variants that reduce or abolish kinase activity are associated with spermatogenic failure.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • diacylglycerol kinase activity | • ATP binding |
| • phosphatidic acid biosynthetic process | • spermatogenesis |
| • intracellular signal transduction |
Pathways
• Glycerophospholipid metabolism
• Phosphatidylinositol signaling system
Protein Summary
Diacylglycerol kinase kappa is a 727-amino acid protein containing a catalytic domain and two C1 domains. It converts DAG to PA, modulating membrane lipid composition and signaling. The protein is localized to the Golgi apparatus and is highly expressed in testicular germ cells.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DGKK Knockout HEK293 Cell Line | EDJ-KQ1050 | Human | 139189 | Details Get a Quote |
| DGKK Knockout HeLa Cell Line | EDJ-KQ58408 | Human | 139189 | Details Get a Quote |
| DGKK Knockout A-549 Cell Line | EDJ-KQ66897 | Human | 139189 | Details Get a Quote |
| DGKK Knockout HCT 116 Cell Line | EDJ-KQ75299 | Human | 139189 | Details Get a Quote |
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