AutismKB 2.0

Annotation Details for CACNA2D2


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Basic Information Top
Gene Symbol:CACNA2D2 ( CACNA2D,KIAA0558,LUAC11.1 )
Gene Full Name: calcium channel, voltage-dependent, alpha 2/delta subunit 2
Band: 3p21.31
Quick LinksEntrez ID:9254; OMIM: 607082; Uniprot ID:CA2D2_HUMAN; ENSEMBL ID: ENSG00000007402; HGNC ID: 1400
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005886TAS-plasma membrane-
GO:0005891IEA-voltage-gated calcium channel complex-
GO ID Evidence Qualifier GO_term References
GO:0005245TAS-voltage-gated calcium channel activity-
GO:0046872IEA-metal ion binding-
GO ID Evidence Qualifier GO_term References
GO:0007528IEA-neuromuscular junction development-
GO:0034765IEA-regulation of ion transmembrane transport-
GO:0040014IEA-regulation of multicellular organism growth-
GO:0046622IEA-positive regulation of organ growth-
GO:0048747IEA-muscle fiber development-
GO:0050796TAS-regulation of insulin secretion-
GO:0060024IEA-rhythmic synaptic transmission-
GO:0061337TAS-cardiac conduction-
GO:0070588IEA-calcium ion transmembrane transport-
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:1929813
  • Data Attributes: MGI curated and HomoloGene calculated
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