Gene Gene information from NCBI Gene database.
Entrez ID 160851
Gene name Diacylglycerol kinase eta
Gene symbol DGKH
Synonyms (NCBI Gene)
DGKeta
Chromosome 13
Chromosome location 13q14.11
Summary This gene encodes a member of the diacylglycerol kinase (DGK) enzyme family. Members of this family are involved in regulating intracellular concentrations of diacylglycerol and phosphatidic acid. Variation in this gene has been associated with bipolar di
miRNA miRNA information provided by mirtarbase database.
188
miRTarBase ID miRNA Experiments Reference
MIRT023493 hsa-miR-1-3p Microarray 18668037
MIRT711623 hsa-miR-6873-5p HITS-CLIP 19536157
MIRT711622 hsa-miR-3614-3p HITS-CLIP 19536157
MIRT711620 hsa-miR-4457 HITS-CLIP 19536157
MIRT711621 hsa-miR-125b-2-3p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
41
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 23949095
GO:0004143 Function ATP-dependent diacylglycerol kinase activity IEA
GO:0004143 Function ATP-dependent diacylglycerol kinase activity IMP 12810723
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604071 2854 ENSG00000102780
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q86XP1
Protein name Diacylglycerol kinase eta (DAG kinase eta) (EC 2.7.1.107) (Diglyceride kinase eta) (DGK-eta)
Protein function Diacylglycerol kinase that converts diacylglycerol/DAG into phosphatidic acid/phosphatidate/PA and regulates the respective levels of these two bioactive lipids (PubMed:12810723, PubMed:23949095). Thereby, acts as a central switch between the si
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00169 PH 66 158 PH domain Domain
PF00130 C1_1 176 228 Phorbol esters/diacylglycerol binding domain (C1 domain) Domain
PF00130 C1_1 248 301 Phorbol esters/diacylglycerol binding domain (C1 domain) Domain
PF00781 DAGK_cat 332 454 Diacylglycerol kinase catalytic domain Family
PF00609 DAGK_acc 770 927 Diacylglycerol kinase accessory domain Family
PF07647 SAM_2 1148 1211 SAM domain (Sterile alpha motif) Domain
Tissue specificity TISSUE SPECIFICITY: [Isoform 1]: Expressed only in testis, kidney and colon. {ECO:0000269|PubMed:12810723}.; TISSUE SPECIFICITY: [Isoform 2]: Ubiquitously expressed. {ECO:0000269|PubMed:12810723}.
Sequence
MAGAGGQHHPPGAAGGAAAGAGAAVTSAAASAGPGEDSSDSEAEQEGPQKLIRKVSTSGQ
IRTKTSIKEGQLLKQTSSFQRWKKRYFKLRGRTLYYAKDSKSLIFDEVDLSDASVAEAST
KNANNSFTIITPFRRLMLCAENRKEMEDWISSLKSVQT
REPYEVAQFNVEHFSGMHNWYA
CSHARPTFCNVCRESLSGVTSHGLSCEVCKFKAHKRCAVRATNNCKWT
TLASIGKDIIED
EDGVAMPHQWLEGNLPVSAKCAVCDKTCGSVLRLQDWKCLWCKTMVHTACKDLYHPICPL
G
QCKVSIIPPIALNSTDSDGFCRATFSFCVSPLLVFVNSKSGDNQGVKFLRRFKQLLNPA
QVFDLMNGGPHLGLRLFQKFDNFRILVCGGDGSVGWVLSEIDKLNLNKQCQLGVLPLGTG
NDLARVLGWGGSYDDDTQLPQILEKLERASTKML
DRWSIMTYELKLPPKASLLPGPPEAS
EEFYMTIYEDSVATHLTKILNSDEHAVVISSAKTLCETVKDFVAKVEKTYDKTLENAVVA
DAVASKCSVLNEKLEQLLQALHTDSQAAPVLPGLSPLIVEEDAVESSSEESLGESKEQLG
DDVTKPSSQKAVKPREIMLRANSLKKAVRQVIEEAGKVMDDPTVHPCEPANQSSDYDSTE
TDESKEEAKDDGAKESITVKTAPRSPDARASYGHSQTDSVPGPAVAASKENLPVLNTRII
CPGLRAGLAASIAGSSIINKMLLANIDPFGATPFIDPDLDSVDGYSEKCVMNNYFGIGLD
AKISLEFNNKREEHPEKCRSRTKNLMWYGVLGTRELLQRSYKNLEQRVQLECDGQYIPLP
SLQGIAVLNIPSYAGGTNFWGGTKEDDIFAAPSFDDKILEVVAIFDSMQMAVSRVIKLQH
HRIAQCRTVKITIFGDEGVPVQVDGEA
WVQPPGIIKIVHKNRAQMLTRDRAFESTLKSWE
DKQKCDSGKPVLRTHLYIHHAIDLATEEVSQMQLCSQAAEELITRICDAATIHCLLEQEL
AHAVNACSHALNKANPRCPESLTRDTATEIAINVKALYNETESLLVGRVPLQLESPHEER
VSNALHSVEVELQKLTEIPWLYYILHPNEDEEPPMDCTKRNNRSTVFRIVPKFKKEKVQK
QKTSSQPVQKWGTEEVAAWLDLLNLGEYKDIFIRHDIRGAELLHLERRDLKDLGIPKVGH
VKRILQGIKEL
GRSTPQSEV
Sequence length 1220
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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
15
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
BIPOLAR DISORDER Disgenet, GWAS catalog
Disgenet, GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BLADDER CALCULUS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHRONIC KIDNEY DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Asthma Asthma GWASCAT_DG 25221879
★☆☆☆☆
Found in Text Mining only
Attention Deficit Disorder with Hyperactivity Attention deficit hyperactivity disorder Pubtator 21654738 Associate
★☆☆☆☆
Found in Text Mining only
Attention deficit hyperactivity disorder Attention Deficit Hyperactivity Disorder BEFREE 27085324
★☆☆☆☆
Found in Text Mining only
Bipolar Disorder Bipolar Disorder BEFREE 17486107, 19358880, 19478689, 21507135, 21654738, 22048461, 22892719, 24958494, 27016658, 27255576, 29936393, 30266033, 30758784
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Bipolar Disorder Bipolar Disorder LHGDN 17486107
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Bipolar Disorder Bipolar Disorder GWASDB_DG 17486107
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Bipolar Disorder Bipolar Disorder GWASCAT_DG 17486107
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Bipolar Disorder Bipolar disorder Pubtator 17486107, 21654738, 21771265, 22048461, 22892719, 30266033 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Bipolar Disorder Bipolar Disorder PSYGENET_DG 21654738, 21771265, 22048461, 22892719, 24958494
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Borderline Personality Disorder Borderline personality disorder BEFREE 21654738, 27085324
★☆☆☆☆
Found in Text Mining only