AutismKB

Annotation Detail for CACNA1G


View Evidences View Annotations
Basic Information Top
Gene Symbol:CACNA1G ( Ca(V)T.1,Cav3.1,MGC117234,NBR13 )
Gene Full Name: calcium channel, voltage-dependent, T type, alpha 1G subunit
Band: 17q22
Quick LinksEntrez ID:8913; OMIM: 604065; Uniprot ID:CAC1G_HUMAN; ENSEMBL ID: ENSG00000006283
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005886IEA-plasma membrane-
GO:0005891IEA-voltage-gated calcium channel complex-
GO:0016021IEA-integral to membrane-
GO ID Evidence Qualifier GO_term References
GO:0005244IEA-voltage-gated ion channel activity-
GO:0008332IEA-low voltage-gated calcium channel activity-
GO ID Evidence Qualifier GO_term References
GO:0002027IEA-regulation of heart rate-
GO:0006810TAS-transport9495342
GO:0006811IEA-ion transport-
GO:0007268IEA-synaptic transmission-
GO:0007411TAS-axon guidance-
GO:0010045IEA-response to nickel ion-
GO:0055085IEA-transmembrane transport-
GO:0060371IEA-regulation of atrial cardiomyocyte membrane depolarization-
Protein-Protein Interaction Top
Genomic Variants Top
Variant ID Location Publication Method/platform Gain Lose Total Frequency Sample Size Genes
Variation_5017 chr17:45949241-46110829 17160897 BAC Array CGH 0 12 12- 95 control samples CACNA1G, SPATA20, MYCBPAP, EPN3, ABCC3
Variant ID Location Publication Method/platform Gain Lose Total Frequency Sample Size Genes
Variation_109713 chr17:46020716-46020718 20482838 Sequence trace read mapping 1 0 1- 1 control sample (J. Craig Venter) CACNA1G
Variation_16085 chr17:46020718-46020718 16902084 Sequence trace read mapping 1 0 1- 36 control samples CACNA1G
Variation_25866 chr17:46020719-46020719 17803354 Sequencing 1 0 1- 1 control sample (HuRef) CACNA1G
Variation_16086 chr17:46020720-46020720 16902084 Sequence trace read mapping 1 0 1- 36 control samples CACNA1G
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:1201678
  • Data Attributes: MGI curated and HomoloGene calculated
MGI Allele ID Allele Symbol Allele Source Allele Type / Mutant Cell line ID
MGI:2182962Cacna1g[tm1Hssh]Allele from Mouse Targeted (knock-out)
  • nervous system phenotype
  • cardiovascular system phenotype
  • behavior/neurological phenotype
MGI:3530499Cacna1g[tm1Stl]Allele from Mouse Targeted (Floxed/Frt)
  • behavior/neurological phenotype
MGI:3530501Cacna1g[tm1.1Stl]Allele from Mouse Targeted (knock-out)
  • nervous system phenotype
  • behavior/neurological phenotype
MGI:3851330Cacna1g[tm1Dgen]Allele from Mouse Targeted (knock-out)
  • homeostasis/metabolism phenotype
  • growth/size phenotype
  • behavior/neurological phenotype
MGI:4354303Cacna1g[tm1Abp]Allele from Mouse Targeted (Floxed/Frt)
  • no phenotypic analysis
MGI:4354305Cacna1g[tm1.1Abp]Allele from Mouse Targeted (knock-out)
  • nervous system phenotype
  • behavior/neurological phenotype
No data