DGKK

diacylglycerol kinase kappa, the group of Diacylglycerol kinases

Basic information

Region (hg38): X:50365408-50470825

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.

• Inborn genetic diseases (31 variants)
• not provided (17 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.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				5	2	7
missense			31	1	5	37
nonsense						0
start loss						0
frameshift						0
inframe indel				1	1	2
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding				1	1	2
Total	0	0	31	8	9

Variants in DGKK

This is a list of pathogenic ClinVar variants found in the DGKK region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
X-50369028-G-GA			Likely benign (Jul 26, 2018)
X-50370538-C-T			Likely benign (Nov 01, 2022)
X-50371729-G-A			Benign (Dec 18, 2018)
X-50375038-G-A		not specified	Uncertain significance (Sep 06, 2022)
X-50376824-C-T			Benign (Dec 31, 2019)
X-50376928-A-G			Benign (Dec 31, 2019)
X-50378589-G-A		not specified	Uncertain significance (Dec 01, 2022)
X-50378612-C-T		not specified	Uncertain significance (Oct 26, 2022)
X-50378630-A-G		not specified	Uncertain significance (Dec 13, 2022)
X-50379680-T-C		not specified	Uncertain significance (Jul 20, 2021)
X-50380018-C-T		not specified	Uncertain significance (Feb 23, 2023)
X-50380019-G-A		not specified	Uncertain significance (Mar 01, 2024)
X-50380037-T-C		not specified	Uncertain significance (Jun 18, 2021)
X-50382561-A-G			Likely benign (Jul 01, 2022)
X-50382602-G-A			Benign (Dec 31, 2019)
X-50384169-T-G		not specified	Uncertain significance (Mar 08, 2024)
X-50384201-T-G		not specified	Uncertain significance (Jan 24, 2023)
X-50384218-C-A		not specified	Uncertain significance (Dec 12, 2023)
X-50384782-A-T		not specified	Uncertain significance (Apr 04, 2023)
X-50386465-G-T		not specified	Uncertain significance (Nov 08, 2022)
X-50386581-G-A			Benign (Dec 20, 2018)
X-50387653-T-A		not specified	Uncertain significance (Feb 22, 2023)
X-50388583-G-A			Likely benign (Jun 21, 2018)
X-50390338-G-A		not specified	Uncertain significance (Dec 20, 2022)
X-50391446-A-T			Benign (Dec 31, 2019)

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

Mouse Genome Informatics

• Gene name: Dgkk

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