AutismKB 2.0

Annotation Details for PITPNM3


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Basic Information Top
Gene Symbol:PITPNM3 ( CORD5,MGC157740,MGC157741,NIR1,RDGBA3 )
Gene Full Name: PITPNM family member 3
Band: 17p13.2-p13.1
Quick LinksEntrez ID:83394; OMIM: 608921; Uniprot ID:PITM3_HUMAN; ENSEMBL ID: ENSG00000091622; HGNC ID: 21043
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005829TAS-cytosol-
GO:0012505IEA-endomembrane system-
GO:0016021TAS-integral component of membrane10022914
GO ID Evidence Qualifier GO_term References
GO:0005509TAS-calcium ion binding10022914
GO:0005515IPI-protein binding21481794
GO:0008289IEA-lipid binding-
GO:0008526TAS-phosphatidylinositol transporter activity10022914
GO:0030971TAS-receptor tyrosine kinase binding10022914
GO ID Evidence Qualifier GO_term References
GO:0006661TAS-phosphatidylinositol biosynthetic process-
GO:0015914IEA-phospholipid transport-
GO:0046488TAS-phosphatidylinositol metabolic process10022914
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
PITPNM3PTK2B10848010022914 Affinity Capture-Western; Reconstituted Complex; Two-hybrid
PITPNM3PTK2B12363610022914 Affinity Capture-Western; Reconstituted Complex; Two-hybrid
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:2685726
  • Data Attributes: 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