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Cacna1c
Gene Detail
 Symbol
Name
ID
Cacna1c
calcium channel, voltage-dependent, L type, alpha 1C subunit
MGI:103013
Synonyms (alpha)1 subunit, Cav1.2, Cchl1a1, D930026N18Rik, L-type Cav1.2
Feature Type protein coding gene
Genetic Map
Chromosome 6
55.86 cM
Detailed Genetic Map ± 1 cM


Mapping data(4)
Sequence Map
Chr6:118592319-118780324 bp, - strand
From Ensembl annotation of GRCm38

  188006 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:55484  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 dog; 1 chicken; 1 zebrafish

Protein SuperFamily: voltage-gated calcium channel
Gene Tree: Cacna1c

Human
homologs
Human Homolog CACNA1C, calcium channel, voltage-dependent, L type, alpha 1C subunit
NCBI Gene ID 775
neXtProt AC  NX_Q13936
Human Synonyms  CACH2, CACN2, CACNL1A1, CaV1.2, CCHL1A1, LQT8, TS
Human Chr (Location)  12p13.3; chr12:1970786-2697949 (+)  GRCh38
Disease Associations  (2) Diseases Associated with Human CACNA1C
Alleles
and
phenotypes
All alleles(17) : Gene trapped(2) Targeted(15)
Incidental mutations (data from Mutagenetix , APF )
 
Mice homozygous for mutations that inactivate the gene do not survive to term. Selective ablation in beta cells resulted in impaired insulin secretion and systemic glucose intolerance. Heterozygotes were hypoactive, showed increased anxiety, and poor motor coordination.
 
Human Diseases Modeled Using Mouse Cacna1c (1)    Alleles Annotated to Human Diseases(1)   
Gene Ontology
(GO)
classifications
All GO classifications: (75 annotations)
Process adult walking behavior, calcium ion-dependent exocytosis, ...
Component caveolar macromolecular signaling complex, cell, ...
Function alpha-actinin binding, calcium channel activity, ...
This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase
Expression
Literature Summary: (21 records)
Data Summary: Results (258)    Tissues (136)    Images (105)
Theiler Stages: 13, 15, 17, 19, 20, 22, 23, 24, 25, 26, 28
Assay TypeResults
Immunohistochemistry 38
RNA in situ 24
In situ reporter (knock in) 101
Northern blot 8
Western blot 11
RT-PCR 67
RNase protection 9
cDNA source data(18)
External Resources: Allen Institute   GEO   ArrayExpress
Molecular
reagents
All nucleic(28) Genomic(2) cDNA(19) Primer pair(7)
Microarray probesets(3)
Other database
links
Ensembl Gene ModelENSMUSG00000051331 (Evidence)
Entrez Gene12288 (Evidence)
DFCITC1587639, TC1591466
DoTSDT.101360564, DT.110472898, DT.526035, DT.55194612, DT.91335512
NIA Mouse Gene IndexU027793, U027794
Consensus CDS ProjectCCDS71821.1
International Mouse Knockout Project StatusCacna1c
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000051331 Ensembl Gene Model | MGI Sequence Detail 188006 C57BL/6J ±  kb
transcript ENSMUST00000112793 Ensembl | MGI Sequence Detail 7765 Not Applicable 
polypeptide ENSMUSP00000108413 Ensembl | MGI Sequence Detail 2063 Not Applicable 

For the selected sequences
All sequences(155) RefSeq(94) UniProt(17)
Polymorphisms SNPs within 2kb(5432 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR005821 Ion transport domain
InterPro IPR002077 Voltage-dependent calcium channel, alpha-1 subunit
InterPro IPR014873 Voltage-dependent calcium channel, alpha-1 subunit, IQ domain
InterPro IPR005451 Voltage-dependent calcium channel, L-type, alpha-1C subunit
InterPro IPR005446 Voltage-dependent calcium channel, L-type, alpha-1 subunit
InterPro IPR027359 Voltage-dependent potassium channel, four helix bundle domain
Protein Ontology PR:000002113 voltage-dependent L-type calcium channel subunit alpha-1C
References (Earliest) J:26177 Perez-Reyes E, et al., Molecular diversity of L-type calcium channels. Evidence for alternative splicing of the transcripts of three non-allelic genes. J Biol Chem. 1990 Nov 25;265(33):20430-6
(Latest) J:206966 Etemad S, et al., Differential neuronal targeting of a new and two known calcium channel beta4 subunit splice variants correlates with their regulation of gene expression. J Neurosci. 2014 Jan 22;34(4):1446-61
All references(123)
Other
accession IDs
MGD-MRK-23850, MGI:3588280

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
07/15/2014
MGI 5.18
The Jackson Laboratory