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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
  • Alliance
    gene page
  • Transcription Start Sites
    30 TSS
Location &
Maps
more
  • Sequence Map
    Chr6:118564201-119173851 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 6, 55.86 cM
  • Mapping Data
    4 experiments
Strain
Comparison
more
  • SNPs within 2kb
    18399 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_103013
 protein coding gene Chr6:118564201-119174345 (-)
129S1/SvImJ MGP_129S1SvImJ_G0031189
 protein coding gene Chr6:121340694-121982846 (-)
A/J MGP_AJ_G0031158
 protein coding gene Chr6:116701605-117319544 (-)
AKR/J MGP_AKRJ_G0031089
 protein coding gene Chr6:119825843-120463404 (-)
BALB/cJ MGP_BALBcJ_G0031169
 protein coding gene Chr6:116474139-117091468 (-)
C3H/HeJ MGP_C3HHeJ_G0030540
 protein coding gene Chr6:63837364-64471038 (+)
C57BL/6NJ MGP_C57BL6NJ_G0031627
 protein coding gene Chr6:124468294-125101985 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0028788
 protein coding gene Chr6:113626326-114239305 (-)
CAST/EiJ MGP_CASTEiJ_G0030276
 protein coding gene Chr6:120240817-120893028 (-)
CBA/J MGP_CBAJ_G0030852
 protein coding gene Chr6:129379105-130048316 (-)
DBA/2J MGP_DBA2J_G0031008
 protein coding gene Chr6:115588794-116216948 (-)
FVB/NJ MGP_FVBNJ_G0030960
 protein coding gene Chr6:114728395-115345031 (-)
LP/J MGP_LPJ_G0031087
 protein coding gene Chr6:121366558-121998087 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0030994
 protein coding gene Chr6:133450944-134075919 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0031656
 protein coding gene Chr6:119863654-120509428 (-)
PWK/PhJ MGP_PWKPhJ_G0029991
 protein coding gene Chr6:114608059-115224503 (-)
SPRET/EiJ MGP_SPRETEiJ_G0029820
 protein coding gene Chr6:118578211-119212238 (-)
WSB/EiJ MGP_WSBEiJ_G0030359
 protein coding gene Chr6:120127477-120765792 (-)



Homology
more
  • Human Ortholog
    CACNA1C, calcium voltage-gated channel subunit alpha1 C
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    CACNA1C, calcium voltage-gated channel subunit alpha1 C
  • Synonyms
    CACH2, CACN2, CACNA1C-IT2, CACNL1A1, CaV1.2, CCHL1A1, LQT8, NEDHLSS, TS, TS. LQT8
  • Links
    NCBI Gene ID: 775
    neXtProt AC: NX_Q13936
    UniProt: Q13936

  • Chr Location
    12p13.33; chr12:1970772-2697950 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Cacna1c mouse models; 4 with human CACNA1C associations

Human Disease Mouse Models
      
IDs
 View 1 model
      
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    61 phenotypes from 14 alleles in 13 genetic backgrounds
    1 phenotype from multigenic genotypes
    107 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
    135
  • GO References
    40
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
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
    1030
  • Tissues
    169
  • cDNA Data
    20
  • Literature Summary
    45
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000051331 Ensembl Gene Model | MGI Sequence Detail 609651 C57BL/6J ±  kb
    transcript ENSMUST00000112793 Ensembl | MGI Sequence Detail 6669 Not Applicable  
    polypeptide ENSMUSP00000108413 Ensembl | MGI Sequence Detail 2222 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      30 Sequences
    • Protein Ontology
      PR:000002113 voltage-dependent L-type calcium channel subunit alpha-1C
      (term hierarchy)
    • InterPro Domains
      IPR005821 Ion transport domain
      IPR050599 Voltage-dependent calcium channel alpha-1 subunit
      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 domain superfamily
      IPR031649 Voltage-dependent L-type calcium channel, IQ-associated domain
      IPR031688 Voltage-gated calcium channel subunit alpha, C-terminal
    • GlyGen
      Q01815 5 sites, 2 N-linked glycans (2 sites), 1 O-linked glycan (1 site)
    Molecular
    Reagents
    less
    • All nucleic 35
      Genomic 2
      cDNA 21
      Primer pair 12

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-23850, MGI:3588280
    References
    more
    • Summaries
      All 257
      Developmental Gene Expression 45
      Diseases 1
      Gene Ontology 40
      Phenotypes 107
    • Earliest
      J:327476 Vasseur M, et al., Sensitivity of pancreatic beta cell to calcium channel blockers. An electrophysiologic study of verapamil and nifedipine. Fundam Clin Pharmacol. 1987;1(2):95-113
    • Latest
      J:355328 Chevalier NR, et al., Calcium wave dynamics in the embryonic mouse gut mesenchyme: impact on smooth muscle differentiation. Commun Biol. 2024 Oct 7;7(1):1277
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory