The protein encoded by this gene contains three cysteine-rich domains, a proline-rich region, and a pleckstrin homology domain with an overlapping Ras-associating domain. It is localized in the speckle domains of the nucleus, and mediates the regeneration of phosphatidylinositol (PI) from diacylglycerol in the PI-cycle during cell signal transduction. [provided by RefSeq, Jul 2... See more...

Aliases for DGKQ Gene

Aliases for DGKQ Gene

  • Diacylglycerol Kinase Theta 2 3 4 5
  • Diacylglycerol Kinase, Theta 110kDa 2 3
  • Diglyceride Kinase Theta 3 4
  • DAG Kinase Theta 3 4
  • EC 2.7.1.107 4 50
  • DGK-Theta 3 4
  • DGKtheta 3 4
  • DAGK4 3 4
  • DAGK7 2 3
  • DAGK 2 3
  • Testis Tissue Sperm-Binding Protein Li 38a 3
  • Diacylglycerol Kinase, Theta (110kD) 2
  • DGKQ 5

External Ids for DGKQ Gene

Previous HGNC Symbols for DGKQ Gene

  • DAGK4

Previous GeneCards Identifiers for DGKQ Gene

  • GC04M000959
  • GC04P000832
  • GC04M000944

Summaries for DGKQ Gene

Entrez Gene Summary for DGKQ Gene

  • The protein encoded by this gene contains three cysteine-rich domains, a proline-rich region, and a pleckstrin homology domain with an overlapping Ras-associating domain. It is localized in the speckle domains of the nucleus, and mediates the regeneration of phosphatidylinositol (PI) from diacylglycerol in the PI-cycle during cell signal transduction. [provided by RefSeq, Jul 2008]

GeneCards Summary for DGKQ Gene

DGKQ (Diacylglycerol Kinase Theta) is a Protein Coding gene. Diseases associated with DGKQ include Retinal Degeneration and Gaucher Disease, Type I. Among its related pathways are Signaling by GPCR and Effects of PIP2 hydrolysis. Gene Ontology (GO) annotations related to this gene include kinase binding and phospholipase binding. An important paralog of this gene is DGKD.

UniProtKB/Swiss-Prot Summary for DGKQ Gene

  • Diacylglycerol kinase that converts diacylglycerol/DAG into phosphatidic acid/phosphatidate/PA and regulates the respective levels of these two bioactive lipids (PubMed:9099683, PubMed:11309392, PubMed:22627129). Thereby, acts as a central switch between the signaling pathways activated by these second messengers with different cellular targets and opposite effects in numerous biological processes (PubMed:11309392, PubMed:17664281, PubMed:26748701). Within the adrenocorticotropic hormone signaling pathway, produces phosphatidic acid which in turn activates NR5A1 and subsequent steroidogenic gene transcription (PubMed:17664281). Also functions downstream of the nerve growth factor signaling pathway being specifically activated in the nucleus by the growth factor (By similarity). Through its diacylglycerol activity also regulates synaptic vesicle endocytosis (PubMed:26748701).

Tocris Summary for DGKQ Gene

  • Diacylglycerol kinases (DGKs) are a group of ten enzymes that metabolize 1,2,diacylglycerol (DAG) to produce phosphatidic acid (PA). They all contain a conserved C'-terminal catalytic domain and two cysteine-rich Zn2+-finger motifs with varied regulatory domains.

Gene Wiki entry for DGKQ Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DGKQ Gene

Genomics for DGKQ Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for DGKQ Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DGKQ on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DGKQ

Top Transcription factor binding sites by QIAGEN in the DGKQ gene promoter:
  • p53
  • POU3F2
  • PPAR-gamma1
  • PPAR-gamma2
  • USF-1
  • USF1

Genomic Locations for DGKQ Gene

Latest Assembly
chr4:958,887-986,895
(GRCh38/hg38)
Size:
28,009 bases
Orientation:
Minus strand

Previous Assembly
chr4:952,675-967,357
(GRCh37/hg19 by Entrez Gene)
Size:
14,683 bases
Orientation:
Minus strand

chr4:952,675-980,683
(GRCh37/hg19 by Ensembl)
Size:
28,009 bases
Orientation:
Minus strand

Genomic View for DGKQ Gene

Genes around DGKQ on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DGKQ Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DGKQ Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DGKQ Gene

Proteins for DGKQ Gene

  • Protein details for DGKQ Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P52824-DGKQ_HUMAN
    Recommended name:
    Diacylglycerol kinase theta
    Protein Accession:
    P52824
    Secondary Accessions:
    • Q6P3W4

    Protein attributes for DGKQ Gene

    Size:
    942 amino acids
    Molecular mass:
    101155 Da
    Quaternary structure:
    • Interacts with RHOA (constitutively activated, GTP-bound); the interaction inhibits DGKQ (PubMed:11309392, PubMed:15164764). Interacts with PRKCE (PubMed:15632189). Interacts with PRKCH (PubMed:15632189). Interacts with PLCB1 (PubMed:12799190). Interacts with NR5A1; the interaction requires both LXXLL motifs in DGKQ and is required for full phosphatidic acid-mediated activation of NR5A1 (PubMed:17664281).

neXtProt entry for DGKQ Gene

Selected DME Specific Peptides for DGKQ Gene

P52824:
  • CGGDGTVGW
  • VNPKSGG
  • PLGTGNDL
  • PVQVDGE

Post-translational modifications for DGKQ Gene

Domains & Families for DGKQ Gene

Gene Families for DGKQ Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for DGKQ Gene

Suggested Antigen Peptide Sequences for DGKQ Gene

GenScript: Design optimal peptide antigens:
  • Diglyceride kinase theta (DGKQ_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P52824

UniProtKB/Swiss-Prot:

DGKQ_HUMAN :
  • The L-X-X-L-L repeats are both required for binding and phosphatidic acid-mediated activation of the nuclear receptor NR5A1.
  • Belongs to the eukaryotic diacylglycerol kinase family.
Domain:
  • The L-X-X-L-L repeats are both required for binding and phosphatidic acid-mediated activation of the nuclear receptor NR5A1.
Family:
  • Belongs to the eukaryotic diacylglycerol kinase family.
genes like me logo Genes that share domains with DGKQ: view

Function for DGKQ Gene

Molecular function for DGKQ Gene

UniProtKB/Swiss-Prot Function:
Diacylglycerol kinase that converts diacylglycerol/DAG into phosphatidic acid/phosphatidate/PA and regulates the respective levels of these two bioactive lipids (PubMed:9099683, PubMed:11309392, PubMed:22627129). Thereby, acts as a central switch between the signaling pathways activated by these second messengers with different cellular targets and opposite effects in numerous biological processes (PubMed:11309392, PubMed:17664281, PubMed:26748701). Within the adrenocorticotropic hormone signaling pathway, produces phosphatidic acid which in turn activates NR5A1 and subsequent steroidogenic gene transcription (PubMed:17664281). Also functions downstream of the nerve growth factor signaling pathway being specifically activated in the nucleus by the growth factor (By similarity). Through its diacylglycerol activity also regulates synaptic vesicle endocytosis (PubMed:26748701).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a 1,2-diacyl-sn-glycerol + ATP = a 1,2-diacyl-sn-glycero-3-phosphate + ADP + H(+); Xref=Rhea:RHEA:10272, ChEBI:CHEBI:15378, ChEBI:CHEBI:17815, ChEBI:CHEBI:30616, ChEBI:CHEBI:58608, ChEBI:CHEBI:456216; EC=2.7.1.107; Evidence={ECO:0000269|PubMed:10066731, ECO:0000269|PubMed:11309392, ECO:0000269|PubMed:15164764, ECO:0000269|PubMed:22627129, ECO:0000269|PubMed:23949095, ECO:0000269|PubMed:9099683};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1,2-di-(9Z-octadecenoyl)-sn-glycerol + ATP = 1,2-di-(9Z-octadecenoyl)-sn-glycero-3-phosphate + ADP + H(+); Xref=Rhea:RHEA:40327, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:52333, ChEBI:CHEBI:74546, ChEBI:CHEBI:456216; Evidence={ECO:0000269|PubMed:11309392, ECO:0000269|PubMed:15164764, ECO:0000269|PubMed:22627129, ECO:0000269|PubMed:23949095, ECO:0000269|PubMed:9099683};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1-O-hexadecyl-sn-glycerol + ATP = 1-O-hexadecyl-sn-glycero-3-phosphate + ADP + H(+); Xref=Rhea:RHEA:41672, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:34115, ChEBI:CHEBI:77580, ChEBI:CHEBI:456216; Evidence={ECO:0000269|PubMed:22627129};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1-O-hexadecyl-2-acetyl-sn-glycerol + ATP = 1-O-hexadecyl-2-acetyl-sn-glycero-3-phosphate + ADP + H(+); Xref=Rhea:RHEA:41676, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:75936, ChEBI:CHEBI:78385, ChEBI:CHEBI:456216; Evidence={ECO:0000269|PubMed:22627129};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1-octadecanoyl-2-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-sn-glycerol + ATP = 1-octadecanoyl-2-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-sn-glycero-3-phosphate + ADP + H(+); Xref=Rhea:RHEA:40323, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:75728, ChEBI:CHEBI:77091, ChEBI:CHEBI:456216; Evidence={ECO:0000269|PubMed:9099683};.
UniProtKB/Swiss-Prot EnzymeRegulation:
Activated by phosphatidylserine.
GENATLAS Biochemistry:
diacylglycerol kinase,110kDa,expressed in retina

Enzyme Numbers (IUBMB) for DGKQ Gene

Phenotypes From GWAS Catalog for DGKQ Gene

Gene Ontology (GO) - Molecular Function for DGKQ Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003951 NAD+ kinase activity IEA --
GO:0004143 diacylglycerol kinase activity IEA,ISS --
GO:0005515 protein binding IPI 10066731
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with DGKQ: view
genes like me logo Genes that share phenotypes with DGKQ: view

Animal Models for DGKQ Gene

MGI Knock Outs for DGKQ:
  • Dgkq Dgkq<tm1b(KOMP)Wtsi>

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DGKQ

No data available for Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for DGKQ Gene

Localization for DGKQ Gene

Subcellular locations from UniProtKB/Swiss-Prot for DGKQ Gene

Cytoplasm. Cytoplasm, cytosol. Cell membrane. Cell junction, synapse. Cytoplasm, cytoskeleton. Nucleus. Nucleus speckle. Nucleus matrix. Note=Translocates to the plasma membrane in response to steroid hormone receptor stimulation (PubMed:15632189). Translocation to the plasma membrane is dependent on G-protein coupled receptor stimulation and subsequent activation of PRKCE and probably PRKCH (PubMed:15632189). Translocates to the nucleus in response to thrombin stimulation (Probable). Association with the nuclear matrix is regulated by nerve growth factor (By similarity). {ECO:0000250 UniProtKB:D3ZEY4, ECO:0000269 PubMed:15632189, ECO:0000305 PubMed:11309392}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DGKQ gene
Compartment Confidence
plasma membrane 5
cytoskeleton 5
nucleus 5
cytosol 5
endosome 4
extracellular 1
mitochondrion 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for DGKQ Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 15632189
GO:0005737 cytoplasm IEA,IDA 15632189
GO:0005768 endosome IDA 22732145
GO:0005829 cytosol IEA,IDA 10066731
GO:0005856 cytoskeleton IEA,IDA 10066731
genes like me logo Genes that share ontologies with DGKQ: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for DGKQ Gene

Pathways & Interactions for DGKQ Gene

genes like me logo Genes that share pathways with DGKQ: view

UniProtKB/Swiss-Prot P52824-DGKQ_HUMAN

  • Pathway: Lipid metabolism; glycerolipid metabolism.

Gene Ontology (GO) - Biological Process for DGKQ Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006111 regulation of gluconeogenesis IMP 23767959
GO:0006357 regulation of transcription by RNA polymerase II IDA 17664281
GO:0006654 phosphatidic acid biosynthetic process IMP 23610160
GO:0007165 signal transduction IEA --
GO:0007171 activation of transmembrane receptor protein tyrosine kinase activity IEA --
genes like me logo Genes that share ontologies with DGKQ: view

No data available for SIGNOR curated interactions for DGKQ Gene

Drugs & Compounds for DGKQ Gene

(27) Drugs for DGKQ Gene - From: DrugBank, ApexBio, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
alpha-Tocopherol succinate Approved, Vet_approved Nutra Target 0
ATP Investigational Nutra 0
Dioctanoylglycol Pharma Diacylglycerol kinase inhibitor 0
R 59-022 Pharma Diacylglycerol kinase inhibitor; increases PKC activity 0

(54) Additional Compounds for DGKQ Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
58-64-0
DG(16:0/24:0/0:0)
  • 1-Palmitoyl-2-lignoceroyl-sn-glycerol
  • DAG(16:0/24:0)
  • DAG(40:0)
  • DG(16:0/24:0)
  • DG(40:0)
Diglycerides Group A
  • (2R)-2-Hydroxy-3-(pentadecanoyloxy)propyl (11Z)-icos-11-enoic acid
  • Diacylglycerol(15:0/0:0/20:1)
  • DAG(35:1)
  • Diacylglycerol(35:1)
  • DG(15:0/0:0/20:1W9)
Diglycerides Group B
  • Diglyceride
  • DG(32:4)
  • DG(14:1/18:3)
  • DAG(14:1/18:3)
  • Diacylglycerol(32:4)
257891-89-7
Diglycerides Group C
  • (2S)-1-Hydroxy-3-(palmitoyloxy)propan-2-yl (5Z,8Z,11Z,14Z)-icosa-5,8,11,14-tetraenoate
  • 1,2-DG 16:0/20:4(omega-6)
  • 1-Hexadecanoyl-2-(5Z,8Z,11Z,14Z)-icosatetraenoyl-sn-glycerol
  • 1-Hexadecanoyl-2-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-sn-glycerol
  • DAG(16:0/20:4)
91125-76-7, 29541-66-0, 51621-26-2

(2) Tocris Compounds for DGKQ Gene

Compound Action Cas Number
Dioctanoylglycol Diacylglycerol kinase inhibitor 627-86-1
R 59-022 Diacylglycerol kinase inhibitor; increases PKC activity 93076-89-2

(2) ApexBio Compounds for DGKQ Gene

Compound Action Cas Number
Dioctanoylglycol 627-86-1
R 59-022 93076-89-2
genes like me logo Genes that share compounds with DGKQ: view

Drug products for research

Transcripts for DGKQ Gene

mRNA/cDNA for DGKQ Gene

1 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DGKQ

Alternative Splicing Database (ASD) splice patterns (SP) for DGKQ Gene

No ASD Table

Relevant External Links for DGKQ Gene

GeneLoc Exon Structure for
DGKQ

Expression for DGKQ Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DGKQ Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for DGKQ Gene

This gene is overexpressed in Peripheral blood mononuclear cells (17.8), CD8 Tcells (15.5), Frontal cortex (11.5), and Serum (9.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for DGKQ Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DGKQ

SOURCE GeneReport for Unigene cluster for DGKQ Gene:

Hs.584858

Evidence on tissue expression from TISSUES for DGKQ Gene

  • Eye(2.2)
  • Nervous system(2.2)
genes like me logo Genes that share expression patterns with DGKQ: view

Primer products for research

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for DGKQ Gene

Orthologs for DGKQ Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for DGKQ Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia DGKQ 29
  • 96.75 (n)
Dog
(Canis familiaris)
Mammalia DGKQ 29 30
  • 83.61 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia DGKQ 29 30
  • 83.33 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Dgkq 29
  • 80.72 (n)
Mouse
(Mus musculus)
Mammalia Dgkq 29 16 30
  • 80.57 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia DGKQ 30
  • 68 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia DGKQ 30
  • 67 (a)
OneToOne
Chicken
(Gallus gallus)
Aves DGKQ 29 30
  • 66.37 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia DGKQ 30
  • 61 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia dgkq 29
  • 62.43 (n)
Zebrafish
(Danio rerio)
Actinopterygii DGKQ 30
  • 45 (a)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta CG31140 29
  • 54.09 (n)
CG34384 30
  • 11 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004209 29
  • 51.23 (n)
Worm
(Caenorhabditis elegans)
Secernentea dgk-1 29 31
  • 46.04 (n)
dgk-4 30
  • 14 (a)
OneToMany
Barley
(Hordeum vulgare)
Liliopsida Hv.11251 29
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.2680 30
  • 16 (a)
OneToMany
Species where no ortholog for DGKQ was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for DGKQ Gene

ENSEMBL:
Gene Tree for DGKQ (if available)
TreeFam:
Gene Tree for DGKQ (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DGKQ: view image
Alliance of Genome Resources:
Additional Orthologs for DGKQ

Paralogs for DGKQ Gene

Paralogs for DGKQ Gene

(1) SIMAP similar genes for DGKQ Gene using alignment to 4 proteins:

  • DGKQ_HUMAN
  • D6RJB4_HUMAN
  • H0Y8Q7_HUMAN
  • H0YA20_HUMAN
genes like me logo Genes that share paralogs with DGKQ: view

Variants for DGKQ Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DGKQ Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
rs10003371 Benign: not provided 973,318(-) G/A
NM_001347.4(DGKQ):c.165C>T (p.Pro55=)
SYNONYMOUS
rs11946829 Benign: not provided 962,459(-) G/A
NM_001347.4(DGKQ):c.2190C>T (p.Asp730=)
SYNONYMOUS
rs150003997 Likely Benign: not provided 966,042(-) C/T
NM_001347.4(DGKQ):c.1465G>A (p.Val489Met)
MISSENSE
rs77865682 Benign: not provided 961,844(-) G/A
NM_001347.4(DGKQ):c.2316-10C>T
INTRON
rs17855876 -- p.Pro27Leu

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for DGKQ Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for DGKQ Gene

Variant ID Type Subtype PubMed ID
dgv5079n100 CNV gain 25217958
esv2726741 CNV deletion 23290073
esv28042 CNV loss 19812545
esv29984 CNV loss 17803354
esv3575667 CNV gain 25503493
nsv1003219 CNV gain 25217958
nsv1008352 CNV gain 25217958
nsv1074661 CNV deletion 25765185
nsv1147237 CNV deletion 26484159
nsv4196 CNV deletion 18451855
nsv469998 CNV loss 18288195
nsv593226 CNV loss 21841781
nsv822425 CNV loss 20364138
nsv822428 CNV gain 20364138
nsv950327 CNV deletion 24416366

Variation tolerance for DGKQ Gene

Residual Variation Intolerance Score: 9.17% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.54; 72.08% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DGKQ Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DGKQ
Leiden Open Variation Database (LOVD)
DGKQ

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DGKQ Gene

Disorders for DGKQ Gene

MalaCards: The human disease database

(3) MalaCards diseases for DGKQ Gene - From: COP and GCD

Disorder Aliases PubMed IDs
retinal degeneration
  • degeneration of retina
gaucher disease, type i
  • gd1
parkinson disease, late-onset
  • pd
- elite association - COSMIC cancer census association via MalaCards
Search DGKQ in MalaCards View complete list of genes associated with diseases

Additional Disease Information for DGKQ

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with DGKQ: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DGKQ Gene

Publications for DGKQ Gene

  1. Cloning of a novel human diacylglycerol kinase (DGKtheta) containing three cysteine-rich domains, a proline-rich region, and a pleckstrin homology domain with an overlapping Ras-associating domain. (PMID: 9099683) Houssa B … van Blitterswijk WJ (The Journal of biological chemistry 1997) 2 3 4 22
  2. Translocation of diacylglycerol kinase theta from cytosol to plasma membrane in response to activation of G protein-coupled receptors and protein kinase C. (PMID: 15632189) van Baal J … van Blitterswijk WJ (The Journal of biological chemistry 2005) 3 4 22
  3. Diacylglycerol kinase-theta is localized in the speckle domains of the nucleus. (PMID: 12799190) Tabellini G … Martelli AM (Experimental cell research 2003) 3 4 22
  4. Nuclear diacylglycerol kinase-theta is activated in response to alpha-thrombin. (PMID: 11309392) Bregoli L … Raben DM (The Journal of biological chemistry 2001) 3 4 22
  5. Diacylglycerol kinase theta binds to and is negatively regulated by active RhoA. (PMID: 10066731) Houssa B … van Blitterswijk WJ (The Journal of biological chemistry 1999) 3 4 22

Products for DGKQ Gene

Sources for DGKQ Gene