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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
  • Gene Overview
    MyGene.info: CACNA1C
  • Alliance
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: HomoloGene, HGNC
  • Synonyms
    CACH2, CACN2, CACNL1A1, CaV1.2, CCHL1A1, LQT8, TS
  • Links
    NCBI Gene ID: 775
    neXtProt AC: NX_Q13936
    UniProt: Q13936

  • Chr Location
    12p13.33; chr12:1969677-2697949 (+)  GRCh38.p7

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

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

  • Mutations/Alleles
    2 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    54 phenotypes from 14 alleles in 12 genetic backgrounds
    20 phenotypes from multigenic genotypes
    67 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
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
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  • All GO Annotations
  • GO References
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 death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
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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
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
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    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
      29 Sequences
    • 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 domain superfamily
      IPR031649 Voltage-dependent L-type calcium channel, IQ-associated domain
      IPR031688 Voltage-gated calcium channel subunit alpha, C-terminal
    Molecular
    Reagents
    less
    • All nucleic 29
      Genomic 2
      cDNA 20
      Primer pair 7

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-23850, MGI:3588280
    References
    more
    • Summaries
      All 185
      Developmental Gene Expression 30
      Diseases 2
      Gene Ontology 29
      Phenotypes 67
    • 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:264193 Berkowitz BA, et al., D-cis-Diltiazem Can Produce Oxidative Stress in Healthy Depolarized Rods In Vivo. Invest Ophthalmol Vis Sci. 2018 Jun 1;59(7):2999-3010

    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
    10/09/2018
    MGI 6.12
    The Jackson Laboratory