AutismKB 2.0

Annotation Details for CACNA1D


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Basic Information Top
Gene Symbol:CACNA1D ( CACH3,CACN4,CACNL1A2,CCHL1A2,Cav1.3 )
Gene Full Name: calcium channel, voltage-dependent, L type, alpha 1D subunit
Band: 3p21.1
Quick LinksEntrez ID:776; OMIM: 114206; Uniprot ID:CAC1D_HUMAN; ENSEMBL ID: ENSG00000157388; HGNC ID: 1391
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005886ISS-plasma membrane21859974
GO:0005886TAS-plasma membrane-
GO:0005891IDA-voltage-gated calcium channel complex11160515
GO:0030018ISS-Z disc-
GO:1990454IDA-L-type voltage-gated calcium channel complex1309651
GO ID Evidence Qualifier GO_term References
GO:0005245IDA-voltage-gated calcium channel activity11160515
GO:0005245TAS-voltage-gated calcium channel activity-
GO:0008331IDAcontributes_tohigh voltage-gated calcium channel activity1309651
GO:0030506ISS-ankyrin binding21859974
GO:0046872IEA-metal ion binding-
GO:0051393IPI-alpha-actinin binding17110593
GO:0086007IC-voltage-gated calcium channel activity involved in cardiac muscle cell action potential21859974
GO:0086059IMP-voltage-gated calcium channel activity involved SA node cell action potential21131953
GO ID Evidence Qualifier GO_term References
GO:0006816IDA-calcium ion transport11160515
GO:0007188ISS-adenylate cyclase-modulating G-protein coupled receptor signaling pathway-
GO:0007605IMP-sensory perception of sound21131953
GO:0050796TAS-regulation of insulin secretion-
GO:0051928IDA-positive regulation of calcium ion transport1309651
GO:0060372ISS-regulation of atrial cardiac muscle cell membrane repolarization-
GO:0061337TAS-cardiac conduction-
GO:0070509IDA-calcium ion import1309651
GO:0070588ISS-calcium ion transmembrane transport-
GO:0086002IMP-cardiac muscle cell action potential involved in contraction21131953
GO:0086012IC-membrane depolarization during cardiac muscle cell action potential21859974
GO:0086046IMP-membrane depolarization during SA node cell action potential21131953
GO:0086091IMP-regulation of heart rate by cardiac conduction21131953
GO:1901016ISS-regulation of potassium ion transmembrane transporter activity-
GO:1901379ISS-regulation of potassium ion transmembrane transport-
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:88293
  • Data Attributes: MGI curated and HomoloGene calculated
SELECT * FROM lijr_20110218_zfin_genotype_phenotype WHERE ZFIN_Gene_ID='ZDB-GENE-030616-135'