AutismKB 2.0

Annotation Details for C2CD4B


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Basic Information Top
Gene Symbol:C2CD4B ( FAM148B,NLF2 )
Gene Full Name: C2 calcium-dependent domain containing 4B
Band: 15q22.2
Quick LinksEntrez ID:388125; OMIM: 610344; Uniprot ID:C2C4B_HUMAN; ENSEMBL ID: ENSG00000205502; HGNC ID: 33628
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005634IEA-nucleus-
GO:0005886IBA-plasma membrane-
GO ID Evidence Qualifier GO_term References
GO:0005509IBA-calcium ion binding-
GO:0005544IBA-calcium-dependent phospholipid binding-
GO:0019905IBANOTsyntaxin binding-
GO:0030276IBANOTclathrin binding-
GO ID Evidence Qualifier GO_term References
GO:0006906IBANOTvesicle fusion-
GO:0017158IBANOTregulation of calcium ion-dependent exocytosis-
GO:0048791IBANOTcalcium ion-regulated exocytosis of neurotransmitter-
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:1922947
  • Data Attributes: MGI curated and HomoloGene calculated
No data
No data

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  (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