DGKK

diacylglycerol kinase kappa, the group of Diacylglycerol kinases

Basic information

Region (hg38): X:50365409-50470825

Links

ENSG00000274588

∙ NCBI:139189 ∙ OMIM:300837 ∙ HGNC:32395 ∙ Uniprot:Q5KSL6 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the DGKK gene.

not_specified (84 variants)
not_provided (20 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DGKK gene is commonly pathogenic or not. These statistics are base on transcript: NM_001013742.4. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous				8 clinvar	2 clinvar	10
missense			81 clinvar	3 clinvar	5 clinvar	89
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	81	11	7

Loading clinvar variants...

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Function: FUNCTION: Phosphorylates diacylglycerol (DAG) to generate phosphatidic acid (PA). {ECO:0000269|PubMed:16210324}.;
Pathway: Glycerolipid metabolism - Homo sapiens (human);Glycerophospholipid metabolism - Homo sapiens (human);Choline metabolism in cancer - Homo sapiens (human);Phosphatidylinositol signaling system - Homo sapiens (human);Phospholipase D signaling pathway - Homo sapiens (human);Signaling by GPCR;Signal Transduction;Effects of PIP2 hydrolysis;Platelet activation, signaling and aggregation;Glycerophospholipid metabolism;Hemostasis;G alpha (q) signalling events;GPCR downstream signalling (Consensus)

Recessive Scores

pRec: 0.0904

Haploinsufficiency Scores

pHI: 0.244
hipred
hipred_score
ghis

Mouse Genome Informatics

Gene name: Dgkk
Phenotype

Gene ontology

Biological process: response to oxidative stress;protein kinase C-activating G protein-coupled receptor signaling pathway;platelet activation;intracellular signal transduction;diacylglycerol metabolic process;glycerolipid metabolic process;lipid phosphorylation
Cellular component: cytoplasm;plasma membrane
Molecular function: NAD+ kinase activity;diacylglycerol kinase activity;ATP binding;metal ion binding