AutismKB 2.0

Annotation Details for ITPKB


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Basic Information Top
Gene Symbol:ITPKB ( IP3-3KB,IP3K,IP3K-B,IP3KB,PIG37 )
Gene Full Name: inositol 1,4,5-trisphosphate 3-kinase B
Band: 1q42.12
Quick LinksEntrez ID:3707; OMIM: 147522; Uniprot ID:IP3KB_HUMAN; ENSEMBL ID: ENSG00000143772; HGNC ID: 6179
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005634IEA-nucleus-
GO:0005829TAS-cytosol-
GO:0016020IEA-membrane-
GO ID Evidence Qualifier GO_term References
GO:0005515IPI-protein binding21516116
GO:0005516IEA-calmodulin binding-
GO:0005524IEA-ATP binding-
GO:0008440IDA-inositol-1,4,5-trisphosphate 3-kinase activity1654894
GO:0008440TAS-inositol-1,4,5-trisphosphate 3-kinase activity-
GO ID Evidence Qualifier GO_term References
GO:0000165IEA-MAPK cascade-
GO:0001932IEA-regulation of protein phosphorylation-
GO:0002262IEA-myeloid cell homeostasis-
GO:0007165TAS-signal transduction1654894
GO:0007166IEA-cell surface receptor signaling pathway-
GO:0032957IDA-inositol trisphosphate metabolic process1654894
GO:0033030IEA-negative regulation of neutrophil apoptotic process-
GO:0035726IEA-common myeloid progenitor cell proliferation-
GO:0043647TAS-inositol phosphate metabolic process-
GO:0045059IEA-positive thymic T cell selection-
GO:0045638IEA-negative regulation of myeloid cell differentiation-
GO:0046579IEA-positive regulation of Ras protein signal transduction-
GO:0046638IEA-positive regulation of alpha-beta T cell differentiation-
GO:0071277IDA-cellular response to calcium ion1654894
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
PSME3ITPKB10991216189514 Two-hybrid
PSME3ITPKB11549216189514 Two-hybrid
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:109235
  • Data Attributes: MGI curated and HomoloGene calculated
No data
No data

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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