Gene Gene information from NCBI Gene database.
Entrez ID 8527
Gene name Diacylglycerol kinase delta
Gene symbol DGKD
Synonyms (NCBI Gene)
DGK-deltaDGKdeltadgkd-2
Chromosome 2
Chromosome location 2q37.1
Summary 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
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs147134923 G>A Conflicting-interpretations-of-pathogenicity Coding sequence variant, genic downstream transcript variant, downstream transcript variant, synonymous variant
miRNA miRNA information provided by mirtarbase database.
237
miRTarBase ID miRNA Experiments Reference
MIRT019754 hsa-miR-375 Microarray 20215506
MIRT044251 hsa-miR-106b-5p CLASH 23622248
MIRT037279 hsa-miR-877-5p CLASH 23622248
MIRT621054 hsa-miR-6515-3p HITS-CLIP 23824327
MIRT621053 hsa-miR-412-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
55
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0004143 Function ATP-dependent diacylglycerol kinase activity IBA
GO:0004143 Function ATP-dependent diacylglycerol kinase activity IDA 12200442, 17880279, 23949095
GO:0004143 Function ATP-dependent diacylglycerol kinase activity IEA
GO:0004143 Function ATP-dependent diacylglycerol kinase activity TAS 8626538
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601826 2851 ENSG00000077044
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q16760
Protein name Diacylglycerol kinase delta (DAG kinase delta) (EC 2.7.1.107) (130 kDa diacylglycerol kinase) (Diglyceride kinase delta) (DGK-delta)
Protein function Diacylglycerol kinase that converts diacylglycerol/DAG into phosphatidic acid/phosphatidate/PA and regulates the respective levels of these two bioactive lipids (PubMed:12200442, PubMed:23949095). Thereby, acts as a central switch between the si
PDB 1R79 , 3BQ7
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00169 PH 54 146 PH domain Domain
PF00130 C1_1 164 216 Phorbol esters/diacylglycerol binding domain (C1 domain) Domain
PF00130 C1_1 236 289 Phorbol esters/diacylglycerol binding domain (C1 domain) Domain
PF00781 DAGK_cat 321 443 Diacylglycerol kinase catalytic domain Family
PF00609 DAGK_acc 763 920 Diacylglycerol kinase accessory domain Family
PF07647 SAM_2 1142 1206 SAM domain (Sterile alpha motif) Domain
Tissue specificity TISSUE SPECIFICITY: [Isoform 2]: Widely expressed. {ECO:0000269|PubMed:12200442}.; TISSUE SPECIFICITY: [Isoform 1]: Only detected in ovary, and to a lesser extent in spleen. {ECO:0000269|PubMed:12200442}.
Sequence
MAAAAGAPPPGPPQPPPPPPPEESSDSEPEAEPGSPQKLIRKVSTSGQIRQKTIIKEGML
TKQNNSFQRSKRRYFKLRGRTLYYAKTAKSIIFDEVDLTDASVAESSTKNVNNSFTVITP
CRKLILCADNRKEMEDWIAALKTVQN
REHFEPTQYSMDHFSGMHNWYACSHARPTYCNVC
REALSGVTSHGLSCEVCKFKAHKRCAVRATNNCKWT
TLASIGKDIIEDADGIAMPHQWLE
GNLPVSAKCTVCDKTCGSVLRLQDWRCLWCKAMVHTSCKESLLTKCPLG
LCKVSVIPPTA
LNSIDSDGFWKASCPPSCTSPLLVFVNSKSGDNQGVKFLRRFKQLLNPAQVFDLMNGGPH
LGLRLFQKFDTFRILVCGGDGSVGWVLSEIDSLNLHKQCQLGVLPLGTGNDLARVLGWGS
ACDDDTQLPQILEKLERASTKML
DRWSVMAYEAKLPRQASSSTVTEDFSEDSEVQQILFY
EDSVAAHLSKILTSDQHSVVISSAKVLCETVKDFVARVGKAYEKTTESSEESEVMAKKCS
VLKEKLDSLLKTLDDESQASSSLPNPPPTIAEEAEDGDGSGSICGSTGDRLVASACPARP
QIFRPREQLMLRANSLKKAIRQIIEHTEKAVDEQNAQTQEQEGFVLGLSESEEKMDHRVC
PPLSHSESFGVPKGRSQRKVSKSPCEKLISKGSLSLGSSASLPPQPGSRDGLPALNTKIL
YPNVRAGMSGSLPGGSVISRLLINADPFNSEPETLEYYTEKCVMNNYFGIGLDAKISLDF
NNKRDEHPEKCRSRTKNMMWYGVLGTKELLHRTYKNLEQKVLLECDGRPIPLPSLQGIAV
LNIPSYAGGTNFWGGTKEDDTFAAPSFDDKILEVVAVFGSMQMAVSRVIRLQHHRIAQCR
TVKISILGDEGVPVQVDGEA
WVQPPGYIRIVHKNRAQTLTRDRAFESTLKSWEDKQKCEL
PRPPSCSLHPEMLSEEEATQMDQFGQAAGVLIHSIREIAQSHRDMEQELAHAVNASSKSM
DRVYGKPRTTEGLNCSFVLEMVNNFRALRSETELLLSGKMALQLDPPQKEQLGSALAEMD
RQLRRLADTPWLCQSAEPGDEESVMLDLAKRSRSGKFRLVTKFKKEKNNKNKEAHSSLGA
PVHLWGTEEVAAWLEHLSLCEYKDIFTRHDIRGSELLHLERRDLKDLGVTKVGHMKRILC
GIKELS
RSAPAVEA
Sequence length 1214
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Glycerolipid metabolism
Glycerophospholipid metabolism
Metabolic pathways
Phosphatidylinositol signaling system
Phospholipase D signaling pathway
Choline metabolism in cancer
  Effects of PIP2 hydrolysis
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
24
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
DGKD-related disorder Benign; Likely benign; Conflicting classifications of pathogenicity rs2228939, rs1294563312, rs1296019180, rs2305541, rs151057884, rs748263202, rs61739478, rs201384247, rs756821372, rs10208953, rs144742201, rs2228937, rs147134923, rs773098886, rs149649324
View all (5 more)
RCV003980786
RCV003924041
RCV003981652
RCV003984653
RCV003912173
RCV003977240
RCV003984562
RCV003961791
RCV003936813
RCV003979041
RCV003915977
RCV003915978
RCV003926021
RCV003910474
RCV003910418
RCV003968098
RCV003910708
RCV003932888
RCV003923169
RCV003903162
EBV-positive nodal T- and NK-cell lymphoma Likely benign rs2470195177 RCV004560228
Hepatocellular carcinoma Uncertain significance rs763217681 RCV005937436
Primary dilated cardiomyopathy Uncertain significance rs578036955 RCV003319254
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Diabetic Retinopathy Associate 23209562
Kidney Calculi Associate 40372791, 40759569
Neoplasms Associate 23184957
Obesity Associate 37107557
Parkinson Disease Associate 22406787
Prostatic Neoplasms Associate 22761715