AutismKB 2.0

Annotation Details for CACNA1H


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Basic Information Top
Gene Symbol:CACNA1H ( CACNA1HB,Cav3.2,ECA6,EIG6,FLJ90484 )
Gene Full Name: calcium channel, voltage-dependent, T type, alpha 1H subunit
Band: 16p13.3
Quick LinksEntrez ID:8912; OMIM: 607904; Uniprot ID:CAC1H_HUMAN; ENSEMBL ID: ENSG00000196557; HGNC ID: 1395
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005886IBA-plasma membrane-
GO:0005891IEA-voltage-gated calcium channel complex-
GO:0016021IDA-integral component of membrane21084288
GO ID Evidence Qualifier GO_term References
GO:0005248IBA-voltage-gated sodium channel activity-
GO:0008332IDA-low voltage-gated calcium channel activity21084288
GO:0046872IEA-metal ion binding-
GO:0097110IPI-scaffold protein binding21084288
GO ID Evidence Qualifier GO_term References
GO:0006810TAS-transport9670923
GO:0006936TAS-muscle contraction9670923
GO:0007517NAS-muscle organ development9670923
GO:0007520TAS-myoblast fusion10861024
GO:0008016TAS-regulation of heart contraction9670923
GO:0019228IBA-neuronal action potential-
GO:0032342IMP-aldosterone biosynthetic process19342457
GO:0032870IEP-cellular response to hormone stimulus19342457
GO:0034651IMP-cortisol biosynthetic process19342457
GO:0034765IEA-regulation of ion transmembrane transport-
GO:0035865IEP-cellular response to potassium ion19342457
GO:0042391IDA-regulation of membrane potential21084288
GO:0045956IBA-positive regulation of calcium ion-dependent exocytosis-
GO:0060078IEA-regulation of postsynaptic membrane potential-
GO:0070509IDA-calcium ion import21084288
GO:0070588IEA-calcium ion transmembrane transport-
GO:0086010IBA-membrane depolarization during action potential-
GO:2000344IMP-positive regulation of acrosome reaction20394732
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
KDM5BCACNA1H11442619336002 Affinity Capture-MS
KDM5BCACNA1H11598419336002 Affinity Capture-MS
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:1928842
  • Data Attributes: MGI curated and HomoloGene calculated
No data