AutismKB 2.0

Annotation Details for CACNA1E


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Basic Information Top
Gene Symbol:CACNA1E ( BII,CACH6,CACNL1A6,Cav2.3 )
Gene Full Name: calcium channel, voltage-dependent, R type, alpha 1E subunit
Band: 1q25.3
Quick LinksEntrez ID:777; OMIM: 601013; Uniprot ID:CAC1E_HUMAN; ENSEMBL ID: ENSG00000198216; HGNC ID: 1392
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005886IBA-plasma membrane-
GO:0005886TAS-plasma membrane-
GO:0005891IEA-voltage-gated calcium channel complex-
GO ID Evidence Qualifier GO_term References
GO:0005245IDA-voltage-gated calcium channel activity8071363
GO:0005245TAS-voltage-gated calcium channel activity-
GO:0005262TAS-calcium channel activity-
GO:0005509IEA-calcium ion binding-
GO:0008331IBA-high voltage-gated calcium channel activity-
GO ID Evidence Qualifier GO_term References
GO:0006810TAS-transport8071363
GO:0007268TAS-chemical synaptic transmission8071363
GO:0034765IEA-regulation of ion transmembrane transport-
GO:0050796TAS-regulation of insulin secretion-
GO:0051899TAS-membrane depolarization-
GO:0070588IEA-calcium ion transmembrane transport-
GO:0086010IBA-membrane depolarization during action potential-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
EFHC1CACNA1E12531315258581 Affinity Capture-Western
EFHC1CACNA1E10723115258581 Affinity Capture-Western
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:106217
  • Data Attributes: MGI curated and 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


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