This gene is a member of the type IV diacylglycerol kinase subfamily. Diacylglycerol kinases regulate the intracellular concentration of diacylglycerol through its phosphorylation, producing phosphatidic acid. The specific role of the enzyme encoded by this gene is undetermined, however, it may play a crucial role in the production of phosphatidic acid in the retina or in rec... See more...

Aliases for DGKI Gene

Aliases for DGKI Gene

  • Diacylglycerol Kinase Iota 2 3 4 5
  • DAG Kinase Iota 3 4
  • EC 2.7.1.107 4 50
  • DGK-IOTA 2 3
  • Diglyceride Kinase Iota 3
  • DGK-Iota 4
  • DGKI 5

External Ids for DGKI Gene

Previous GeneCards Identifiers for DGKI Gene

  • GC07M135416
  • GC07M136475
  • GC07M136489
  • GC07M136530
  • GC07M136724
  • GC07M137073
  • GC07M131379

Summaries for DGKI Gene

Entrez Gene Summary for DGKI Gene

  • This gene is a member of the type IV diacylglycerol kinase subfamily. Diacylglycerol kinases regulate the intracellular concentration of diacylglycerol through its phosphorylation, producing phosphatidic acid. The specific role of the enzyme encoded by this gene is undetermined, however, it may play a crucial role in the production of phosphatidic acid in the retina or in recessive forms of retinal degeneration. [provided by RefSeq, Jul 2008]

GeneCards Summary for DGKI Gene

DGKI (Diacylglycerol Kinase Iota) is a Protein Coding gene. Diseases associated with DGKI include Dyslexia and Retinal Degeneration. Among its related pathways are Signaling by GPCR and Effects of PIP2 hydrolysis. Gene Ontology (GO) annotations related to this gene include NAD+ kinase activity and diacylglycerol kinase activity. An important paralog of this gene is DGKZ.

UniProtKB/Swiss-Prot Summary for DGKI Gene

  • Diacylglycerol kinase that converts diacylglycerol/DAG into phosphatidic acid/phosphatidate/PA and regulates the respective levels of these two bioactive lipids (PubMed:9830018, PubMed:23949095). 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 (Probable). Has probably no preference for any of the diacylglycerols in terms of the acyl chain composition, especially for the acyl chain at the sn-2 position (PubMed:9830018). By controlling the diacylglycerol/DAG-mediated activation of RASGRP3, negatively regulates the Rap1 signaling pathway. May play a role in presynaptic diacylglycerol/DAG signaling and control neurotransmitter release during metabotropic glutamate receptor-dependent long-term depression (By similarity).

Tocris Summary for DGKI 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.

No data available for CIViC Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DGKI Gene

Genomics for DGKI Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for DGKI Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07J137846 Promoter/Enhancer 1.4 Ensembl ENCODE CraniofacialAtlas 250.7 +0.4 391 2.2 YY1 FOSL2 MAFK KDM1A ZBTB48 ELF1 NFYC ZNF398 POLR2A PKNOX1 DGKI lnc-AKR1D1-5 lnc-CREB3L2-1 PTN
GH07J137774 Promoter 0.4 EPDnew 250.2 +71.9 71916 0.1 JUND lnc-CREB3L2-1 DGKI lnc-AKR1D1-5 PTN
GH07J138349 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 10.2 -505.3 -505349 4.9 NCOR1 MYC IKZF1 SSRP1 ZNF592 ZMYM3 CEBPA NFIC CHD4 MXD4 LUC7L2 UBN2 TTC26 TRIM24 ENSG00000271537 DGKI SVOPL CREB3L2 piR-50443-346 piR-41420-006
GH07J137870 Enhancer 1.2 Ensembl ENCODE dbSUPER 11.7 -30.2 -30229 13.2 MYC NCOR1 IKZF1 JUND NFIC REST BHLHE40 TBP EP300 IRF4 HSALNG0061649 DGKI CREB3L2 HSALNG0061650 HSALNG0061644
GH07J137819 Enhancer 1.2 FANTOM5 Ensembl ENCODE CraniofacialAtlas 11.8 +26.2 26204 2.2 BCL11A SIN3A EBF1 BHLHE40 IKZF1 TCF12 PKNOX1 MCM2 NANOG EGR2 DGKI lnc-AKR1D1-5 lnc-CREB3L2-1 PTN
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

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

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

Top Transcription factor binding sites by QIAGEN in the DGKI gene promoter:
  • COMP1
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • FOXO4
  • Hlf
  • RSRFC4

Genomic Locations for DGKI Gene

Latest Assembly
chr7:137,381,037-137,847,092
(GRCh38/hg38)
Size:
466,056 bases
Orientation:
Minus strand

Previous Assembly
chr7:137,065,783-137,531,720
(GRCh37/hg19 by Entrez Gene)
Size:
465,938 bases
Orientation:
Minus strand

chr7:137,065,783-137,531,838
(GRCh37/hg19 by Ensembl)
Size:
466,056 bases
Orientation:
Minus strand

Genomic View for DGKI Gene

Genes around DGKI on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for DGKI Gene

Proteins for DGKI Gene

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

    Protein Symbol:
    O75912-DGKI_HUMAN
    Recommended name:
    Diacylglycerol kinase iota
    Protein Accession:
    O75912
    Secondary Accessions:
    • A4D1Q9
    • Q9NZ49

    Protein attributes for DGKI Gene

    Size:
    1065 amino acids
    Molecular mass:
    116997 Da
    Quaternary structure:
    • Interacts (via PDZ-binding motif) with DLG4; controls the localization of DGKI to the synapse (PubMed:21119615). Interacts (via PDZ-binding motif) with DLG1 (By similarity). Interacts (via PDZ-binding motif) with DLG2 (By similarity). Interacts (via PDZ-binding motif) with DLG3 (By similarity). May interact with RASGRP3; involved in the regulation of RASGRP3 activity (By similarity).

neXtProt entry for DGKI Gene

Selected DME Specific Peptides for DGKI Gene

O75912:
  • PMQVDGE
  • IEEPCSLG
  • DLTPKIQ
  • WYLNPRQVFDLSQ
  • CGGDGTVGW
  • FVRHHWVHRRRQ
  • SLAALQVGGHGERL
  • HHDFEPQRHDDGY
  • PEKFNSR
  • VNPKSGG
  • ETNVSGD
  • CGKGFQQKF
  • PLGTGNDL
  • FHSKEIVAISCSWCKQA

Post-translational modifications for DGKI Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibodies for research

  • Abcam antibodies for DGKI

Domains & Families for DGKI Gene

Gene Families for DGKI Gene

Protein Domains for DGKI Gene

Suggested Antigen Peptide Sequences for DGKI Gene

GenScript: Design optimal peptide antigens:
  • Diglyceride kinase iota (DGKI_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O75912

UniProtKB/Swiss-Prot:

DGKI_HUMAN :
  • Belongs to the eukaryotic diacylglycerol kinase family.
Family:
  • Belongs to the eukaryotic diacylglycerol kinase family.
genes like me logo Genes that share domains with DGKI: view

Function for DGKI Gene

Molecular function for DGKI 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:9830018, PubMed:23949095). 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 (Probable). Has probably no preference for any of the diacylglycerols in terms of the acyl chain composition, especially for the acyl chain at the sn-2 position (PubMed:9830018). By controlling the diacylglycerol/DAG-mediated activation of RASGRP3, negatively regulates the Rap1 signaling pathway. May play a role in presynaptic diacylglycerol/DAG signaling and control neurotransmitter release during metabotropic glutamate receptor-dependent long-term depression (By similarity).
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:23949095, ECO:0000269|PubMed:9830018};.
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:23949095, ECO:0000269|PubMed:9830018};.
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:9830018};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1-octadecanoyl-2-(9Z,12Z)-octadecadienoyl-sn-glycerol + ATP = 1-octadecanoyl-2-(9Z,12Z-octadecadienoyl)-sn-glycero-3-phosphate + ADP + H(+); Xref=Rhea:RHEA:40339, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:77097, ChEBI:CHEBI:77098, ChEBI:CHEBI:456216; Evidence={ECO:0000250|UniProtKB:F1MAB7};.
GENATLAS Biochemistry:
diacylglycerol kinase iota,expressed in the cytoplasm and nucleus of brain and retina

Enzyme Numbers (IUBMB) for DGKI Gene

Phenotypes From GWAS Catalog for DGKI Gene

Gene Ontology (GO) - Molecular Function for DGKI 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,IDA 9830018
GO:0005095 GTPase inhibitor activity IEA --
GO:0005515 protein binding IEA,IPI 17986458
genes like me logo Genes that share ontologies with DGKI: view
genes like me logo Genes that share phenotypes with DGKI: view

Animal Models for DGKI Gene

MGI Knock Outs for DGKI:
  • Dgki Dgki<tm1Mtop>

Animal Models for research

  • Taconic Biosciences Mouse Models for DGKI

Inhibitory RNAs for research

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

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

Localization for DGKI Gene

Subcellular locations from UniProtKB/Swiss-Prot for DGKI Gene

Cell projection, axon. Cell projection, dendrite. Cell junction, synapse, presynapse. Cell junction, synapse, postsynapse. Cell junction, synapse, postsynaptic density. Cell junction, synapse, synaptic cell membrane. Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane. Cytoplasm, cytosol. Nucleus. Note=Excluded from inhibitory synapses (By similarity). Localization between cytoplasm and nucleus is regulated by protein kinase C (PubMed:9830018). Both in the detergent soluble and particulate fractions (By similarity). {ECO:0000250 UniProtKB:F1MAB7, ECO:0000269 PubMed:9830018}.

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 DGKI gene
Compartment Confidence
nucleus 5
plasma membrane 4
cytosol 4
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
golgi apparatus 1
peroxisome 0

Gene Ontology (GO) - Cellular Components for DGKI Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA,IDA 9830018
GO:0005737 cytoplasm IEA,IDA 9830018
GO:0005829 cytosol IEA --
GO:0005886 plasma membrane TAS --
GO:0008021 synaptic vesicle IEA --
genes like me logo Genes that share ontologies with DGKI: view

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

Pathways & Interactions for DGKI Gene

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

UniProtKB/Swiss-Prot O75912-DGKI_HUMAN

  • Pathway: Lipid metabolism; glycerolipid metabolism.

Gene Ontology (GO) - Biological Process for DGKI Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006654 phosphatidic acid biosynthetic process IEA --
GO:0007165 signal transduction IEA --
GO:0007205 protein kinase C-activating G protein-coupled receptor signaling pathway IEA --
GO:0007269 neurotransmitter secretion IEA --
GO:0016310 phosphorylation IEA --
genes like me logo Genes that share ontologies with DGKI: view

No data available for SIGNOR curated interactions for DGKI Gene

Drugs & Compounds for DGKI Gene

(4) Drugs for DGKI Gene - From: DrugBank, HMDB, and Tocris

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

(23) Additional Compounds for DGKI Gene - From: HMDB

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 DGKI Gene

Compound Action Cas Number
Dioctanoylglycol Diacylglycerol kinase inhibitor 627-86-1
R 59-022 Diacylglycerol kinase inhibitor; increases PKC activity 93076-89-2
genes like me logo Genes that share compounds with DGKI: view

Transcripts for DGKI Gene

mRNA/cDNA for DGKI Gene

5 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
13 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 DGKI

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

No ASD Table

Relevant External Links for DGKI Gene

GeneLoc Exon Structure for
DGKI

Expression for DGKI Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DGKI Gene

This gene is overexpressed in Thyroid (x5.8).

Protein differential expression in normal tissues from HIPED for DGKI Gene

This gene is overexpressed in Fetal Brain (29.0), Neutrophil (12.3), Pancreatic juice (11.6), and Frontal cortex (9.7).

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



Protein tissue co-expression partners for DGKI Gene

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

SOURCE GeneReport for Unigene cluster for DGKI Gene:

Hs.242947

mRNA Expression by UniProt/SwissProt for DGKI Gene:

O75912-DGKI_HUMAN
Tissue specificity: Specifically expressed in brain and retina (PubMed:9830018). In brain, highly expressed in hippocampus, caudate nucleus, occipital pole, cerebral cortex, and cerebellum (PubMed:9830018). Also detected in kidney (PubMed:15894621).

Evidence on tissue expression from TISSUES for DGKI Gene

  • Eye(4.3)
  • Nervous system(2.4)
genes like me logo Genes that share expression patterns with DGKI: view

Primer products for research

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for DGKI Gene

Orthologs for DGKI Gene

This gene was present in the common ancestor of animals.

Orthologs for DGKI Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia DGKI 29 30
  • 99.37 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia DGKI 29 30
  • 94.49 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia DGKI 29 30
  • 92.91 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Dgki 29
  • 90.45 (n)
Mouse
(Mus musculus)
Mammalia Dgki 29 16 30
  • 90.38 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia DGKI 30
  • 88 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia DGKI 30
  • 86 (a)
OneToOne
Chicken
(Gallus gallus)
Aves DGKI 29 30
  • 80.41 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia DGKI 30
  • 87 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia dgki 29
  • 70.19 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.16337 29
Zebrafish
(Danio rerio)
Actinopterygii dgki 29
  • 69.41 (n)
DGKI 30
  • 68 (a)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta rdgA 30 31
  • 28 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea K06A1.6 31
  • 38 (a)
dgk-5 30
  • 33 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 48 (a)
OneToMany
Species where no ortholog for DGKI was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • 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 DGKI Gene

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

Paralogs for DGKI Gene

Paralogs for DGKI Gene

(3) SIMAP similar genes for DGKI Gene using alignment to 4 proteins:

  • DGKI_HUMAN
  • E7EM72_HUMAN
  • E7EWQ4_HUMAN
  • E9PFX6_HUMAN
genes like me logo Genes that share paralogs with DGKI: view

Variants for DGKI Gene

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

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
rs61757580 -- p.Leu153Phe

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

Variant ID Type Subtype PubMed ID
dgv238n6 CNV deletion 16902084
dgv3676n106 CNV deletion 24896259
esv1745681 CNV insertion 17803354
esv2031397 CNV deletion 18987734
esv2224181 CNV deletion 18987734
esv2428797 CNV deletion 19546169
esv2661659 CNV deletion 23128226
esv2667508 CNV deletion 23128226
esv2672944 CNV deletion 23128226
esv2677586 CNV deletion 23128226
esv2735207 CNV deletion 23290073
esv2735208 CNV deletion 23290073
esv2735209 CNV deletion 23290073
esv2735210 CNV deletion 23290073
esv3306180 CNV mobile element insertion 20981092
esv3334238 CNV insertion 20981092
esv33947 CNV gain 17666407
esv3405561 CNV insertion 20981092
esv3430152 CNV insertion 20981092
esv3542494 CNV deletion 23714750
esv3572162 CNV loss 25503493
esv3615168 CNV gain 21293372
esv3615169 CNV gain 21293372
esv3615171 CNV loss 21293372
esv3615172 CNV loss 21293372
esv3615177 CNV loss 21293372
esv3615179 CNV loss 21293372
esv9134 CNV loss 19470904
nsv1022793 CNV gain 25217958
nsv1075061 CNV deletion 25765185
nsv1124270 CNV deletion 24896259
nsv1125923 CNV tandem duplication 24896259
nsv1128367 CNV deletion 24896259
nsv366883 CNV deletion 16902084
nsv464731 CNV loss 19166990
nsv475552 CNV novel sequence insertion 20440878
nsv477142 CNV novel sequence insertion 20440878
nsv477743 CNV novel sequence insertion 20440878
nsv511992 CNV loss 21212237
nsv518230 CNV loss 19592680
nsv520950 CNV loss 19592680
nsv608466 CNV loss 21841781
nsv824315 CNV loss 20364138
nsv831150 CNV gain+loss 17160897
nsv957036 CNV insertion 24416366
nsv958404 CNV deletion 24416366
nsv970582 CNV duplication 23825009
nsv981587 CNV duplication 23825009

Variation tolerance for DGKI Gene

Residual Variation Intolerance Score: 4.57% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.91; 59.38% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DGKI Gene

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

SNP Genotyping and Copy Number Assays for research

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

Disorders for DGKI Gene

MalaCards: The human disease database

(2) MalaCards diseases for DGKI Gene - From: COP and GCD

Disorder Aliases PubMed IDs
dyslexia
retinal degeneration
  • degeneration of retina
- elite association - COSMIC cancer census association via MalaCards
Search DGKI in MalaCards View complete list of genes associated with diseases

Additional Disease Information for DGKI

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 DGKI: view

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

Publications for DGKI Gene

  1. The cloning and characterization of a novel human diacylglycerol kinase, DGKiota. (PMID: 9830018) Ding L … Prescott SM (The Journal of biological chemistry 1998) 2 3 4 22
  2. DGKι regulates presynaptic release during mGluR-dependent LTD. (PMID: 21119615) Yang J … Kim E (The EMBO journal 2011) 3 4
  3. Genome-wide association study implicates PARD3B-based AIDS restriction. (PMID: 21502085) Troyer JL … O'Brien SJ (The Journal of infectious diseases 2011) 3 40
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 40
  5. Gene-wide analyses of genome-wide association data sets: evidence for multiple common risk alleles for schizophrenia and bipolar disorder and for overlap in genetic risk. (PMID: 19065143) Moskvina V … O'Donovan MC (Molecular psychiatry 2009) 3 40

Products for DGKI Gene

Sources for DGKI Gene