About   Help   FAQ
Cacna1c Gene Detail
Summary
  • Symbol
    Cacna1c
  • Name
    calcium channel, voltage-dependent, L type, alpha 1C subunit
  • Synonyms
    (alpha)1 subunit, Cav1.2, Cchl1a1, D930026N18Rik, L-type Cav1.2
  • Feature Type
    protein coding gene
  • IDs
    MGI:103013
    NCBI Gene: 12288
  • Gene Overview
    MyGene.info: CACNA1C
Location & Maps
more
  • Sequence Map
    Chr6:118587240-119196418 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      609179 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 6, 55.86 cM
  • Mapping Data
    4 experiments
Homology
more
  • Human Ortholog
    CACNA1C, calcium voltage-gated channel subunit alpha1 C
  • Vertebrate Orthologs
    9
  • Human Ortholog
    CACNA1C, calcium voltage-gated channel subunit alpha1 C
    Orthology source: HGNC, HomoloGene
  • Synonyms
    CACH2, CACN2, CACNL1A1, CaV1.2, CCHL1A1, LQT8, TS
  • Links
    NCBI Gene ID: 775
    neXtProt AC: NX_Q13936

  • Chr Location
    12p13.3; chr12:1970786-2697949 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Cacna1c mouse models; 2 with human CACNA1C associations

Human Disease Mouse Models
       Timothy Syndrome; TS   OMIM: 601005 View 1 model
       Brugada Syndrome 3; BRGDA3   OMIM: 611875
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    4 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    54 phenotypes from 14 alleles in 12 genetic backgrounds
    46 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
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.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
less
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 sequence
Polymorphisms
less
  • SNPs within 2kb
    5465 from dbSNP Build 142
Protein
Information
less
  • UniProt
    25 Sequences
  • Protein Ontology
    PR:000002113 voltage-dependent L-type calcium channel subunit alpha-1C
  • InterPro Domains
    IPR005821 Ion transport domain
    IPR002077 Voltage-dependent calcium channel, alpha-1 subunit
    IPR014873 Voltage-dependent calcium channel, alpha-1 subunit, IQ domain
    IPR005451 Voltage-dependent calcium channel, L-type, alpha-1C subunit
    IPR005446 Voltage-dependent calcium channel, L-type, alpha-1 subunit
    IPR027359 Voltage-dependent channel, four helix bundle domain
    IPR031649 Voltage-dependent L-type calcium channel, IQ-associated domain
    IPR031688 Voltage-gated calcium channel subunit alpha, C-terminal
Molecular
Reagents
less
  • All nucleic 28
    Genomic 2
    cDNA 19
    Primer pair 7

    Microarray probesets 3
Other
Accession IDs
less
MGD-MRK-23850, MGI:3588280
References
more
  • Summaries
    All 136
    Developmental Gene Expression 27
    Diseases 4
    Gene Ontology 27
    Phenotypes 46
  • 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:233687 Patriarchi T, et al., Phosphorylation of Cav1.2 on S1928 uncouples the L-type Ca2+ channel from the beta2 adrenergic receptor. EMBO J. 2016 Jun 15;35(12):1330-45

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
08/17/2016
MGI 6.05
The Jackson Laboratory