DGKK (diacylglycerol kinase kappa)

2014-11-01  

Identity

HGNC
LOCATION
Xp11.22
LOCUSID

Other Information

Locus ID:

NCBI: 139189
MIM: 300837
HGNC: 32395
Ensembl: ENSG00000274588

Variants:

dbSNP: 139189
ClinVar: 139189
TCGA: ENSG00000274588
COSMIC: DGKK

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000274588ENST00000611977Q5KSL6

Expression (GTEx)

0
5
10
15

Pathways

PathwaySourceExternal ID
Glycerolipid metabolismKEGGko00561
Glycerophospholipid metabolismKEGGko00564
Phosphatidylinositol signaling systemKEGGko04070
Glycerolipid metabolismKEGGhsa00561
Glycerophospholipid metabolismKEGGhsa00564
Phosphatidylinositol signaling systemKEGGhsa04070
Metabolic pathwaysKEGGhsa01100
Choline metabolism in cancerKEGGhsa05231
Choline metabolism in cancerKEGGko05231
HemostasisREACTOMER-HSA-109582
Platelet activation, signaling and aggregationREACTOMER-HSA-76002
Effects of PIP2 hydrolysisREACTOMER-HSA-114508
Signal TransductionREACTOMER-HSA-162582
Signaling by GPCRREACTOMER-HSA-372790
GPCR downstream signalingREACTOMER-HSA-388396
G alpha (q) signalling eventsREACTOMER-HSA-416476
Gastrin-CREB signalling pathway via PKC and MAPKREACTOMER-HSA-881907
Phospholipase D signaling pathwayKEGGko04072
Phospholipase D signaling pathwayKEGGhsa04072

References

Pubmed IDYearTitleCitations
211131532011Common variants in DGKK are strongly associated with risk of hypospadias.32
162103242005Identification and characterization of a novel human type II diacylglycerol kinase, DGK kappa.31
272339382016Fragile X Mental Retardation Protein (FMRP) controls diacylglycerol kinase activity in neurons.24
253275542015Diacylglycerol kinase κ (DGKK) variants and hypospadias in Han Chinese: association and meta-analysis.4
285978492018Association between diacylglycerol kinase kappa variants and hypospadias susceptibility in a Han Chinese population.3
311025012019The role of genetic variation in DGKK on moderate and severe hypospadias.3
261622972015Expression Analysis of DGKK during External Genitalia Formation.2
294646762018Further Evidence of the Association of the Diacylglycerol Kinase Kappa (DGKK) Gene With Hypospadias.0

Citation

Dessen P

DGKK (diacylglycerol kinase kappa)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62458/dgkk