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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
Chr6:118587240-119196418 bp, - strand
From VEGA annotation of GRCm38

  609179 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 western clawed frog; 1 zebrafish

HCOP human homology predictions: CACNA1C
Protein SuperFamily: voltage-gated calcium channel
Gene Tree: Cacna1c

Human
homologs
CACNA1C, calcium channel, voltage-dependent, L type, alpha 1C subunit
Orthology source: HGNC, HomoloGene

IDs:
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.p2

Disease Associations: (2) Diseases Associated with Human CACNA1C

Mutations,
alleles, and
phenotypes
All mutations/alleles(18) : Gene trapped(3) Targeted(15)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
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 in Mice Using Cacna1c (1)    Mutations Annotated to Human Diseases (1)   
Interactions
Cacna1c interacts with 268 markers (Mir1b, Mir7-1, Mir9-1, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (77 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: (24 records)
Data Summary: Results (258)    Tissues (141)    Images (105)    Tissue x Stage Matrix (view)
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)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase cacna1c ; ZFIN cacna1c    NEW 
Molecular
reagents
All nucleic(28) Genomic(2) cDNA(19) Primer pair(7)
Microarray probesets(3)
Other database
links
VEGA Gene Model OTTMUSG00000049004 (Evidence)
Ensembl Gene Model ENSMUSG00000051331 (Evidence)
Entrez Gene 12288 (Evidence)
DFCI TC1587639, TC1591466
DoTS DT.101360564, DT.110472898, DT.526035, DT.55194612, DT.91335512
NIA Mouse Gene Index U027793, U027794
Consensus CDS Project CCDS71821.1, CCDS80587.1, CCDS80588.1, CCDS80589.1, CCDS80590.1, CCDS80592.1, CCDS80593.1, CCDS80594.1, CCDS80595.1
International Mouse Phenotyping Consortium Status Cacna1c
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000049004 VEGA Gene Model | MGI Sequence Detail 609179 C57BL/6J ±  kb
transcript OTTMUST00000125322 VEGA | MGI Sequence Detail 6669 Not Applicable 
polypeptide OTTMUSP00000067978 VEGA | MGI Sequence Detail 2222 Not Applicable 

For the selected sequences
All sequences(246) RefSeq(104) UniProt(25)
Polymorphisms
SNPs within 2kb(5471 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 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:216531 Hartman ME, et al., Myocardial deletion of transcription factor CHF1/Hey2 results in altered myocyte action potential and mild conduction system expansion but does not alter conduction system function or promote spontaneous arrhythmias. FASEB J. 2014 Jul;28(7):3007-15
All references(130)
Disease annotation references (4)
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
08/25/2015
MGI 6.0
The Jackson Laboratory