AutismKB 2.0

Annotation Details for DGKH


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Basic Information Top
Gene Symbol:DGKH ( DGKeta,DKFZp761I1510 )
Gene Full Name: diacylglycerol kinase, eta
Band: 13q14.11
Quick LinksEntrez ID:160851; OMIM: 604071; Uniprot ID:DGKH_HUMAN; ENSEMBL ID: ENSG00000102780; HGNC ID: 2854
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005737IDA-cytoplasm12810723
GO:0005768IDA-endosome12810723
GO:0005886TAS-plasma membrane-
GO ID Evidence Qualifier GO_term References
GO:0003951IEA-NAD+ kinase activity-
GO:0004143IMP-diacylglycerol kinase activity12810723
GO:0004143TAS-diacylglycerol kinase activity-
GO:0005524IEA-ATP binding-
GO:0046872IEA-metal ion binding-
GO ID Evidence Qualifier GO_term References
GO:0007205IMP-protein kinase C-activating G-protein coupled receptor signaling pathway12810723
GO:0016310IEA-phosphorylation-
GO:0030168TAS-platelet activation-
GO:0035556IEA-intracellular signal transduction-
GO:0051259IMP-protein oligomerization12810723
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
DGKHDGKD11409712810723 Affinity Capture-Western
DGKHDGKD12776812810723 Affinity Capture-Western
DGKHDGKH12776812810723 Affinity Capture-Western; Reconstituted Complex
No data
No data
AlzGene, PDGene and SZGene Top
No data
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Gene Symbol Poly Names Gene overview in SZGene
DGKHrs1012053, rs1170098, rs1170099, rs1170191, rs2122246, rs347387, rs716934, rs9315885, rs9315897, rs9532988, rs9533042, rs9566931, rs9566940 Gene overview in SZGene
Animal Model Top
  • MGI ID: MGI:2444188
  • Data Attributes: HomoloGene calculated
No data
No data

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018