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Cacna1a Gene Detail
Summary
  • Symbol
    Cacna1a
  • Name
    calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
  • Synonyms
    alpha1A, Cacnl1a4, Ccha1a, nmf352, SCA6, smrl
  • Feature Type
    protein coding gene
  • IDs
    MGI:109482
    NCBI Gene: 12286
  • Gene Overview
    MyGene.info: CACNA1A
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr8:84388440-84640246 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      251807 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 8, 40.95 cM
  • Mapping Data
    17 experiments
Homology
more
  • Human Ortholog
    CACNA1A, calcium voltage-gated channel subunit alpha1 A
  • Vertebrate Orthologs
    9
  • Human Ortholog
    CACNA1A, calcium voltage-gated channel subunit alpha1 A
    Orthology source: HomoloGene, HGNC
  • Synonyms
    APCA, BI, CACNL1A4, CAV2.1, EA2, EIEE42, FHM, HPCA, MHP, MHP1, SCA6
  • Links
    NCBI Gene ID: 773
    neXtProt AC: NX_O00555
    UniProt: O00555

  • Chr Location
    19p13.13; chr19:13206442-13506460 (-)  GRCh38.p7

Human Diseases
more
  • Diseases
    7 with Cacna1a mouse models; 3 with human CACNA1A associations

Human Disease Mouse Models
      
IDs
View 2 models
IDs
View 5 models
IDs
View 2 models
      
IDs
View 1 model
IDs
View 1 model
IDs
View 2 models
IDs
View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    8 with disease annotations
  • References
    11 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    119 phenotypes from 29 alleles in 42 genetic backgrounds
    8 phenotypes from multigenic genotypes
    2 images
    252 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.
Homozygotes for different mutant alleles are characterized by variably severe wobbly gait beginning prior to weaning, ataxia, episodic dyskinesia, cerebellar atrophy, and absence epilepsy.
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
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
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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
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    Sequences &
    Gene Models
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    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000031448 VEGA Gene Model | MGI Sequence Detail 251807 C57BL/6J ±  kb
    transcript OTTMUST00000077929 VEGA | MGI Sequence Detail 7926 Not Applicable  
    polypeptide OTTMUSP00000041322 VEGA | MGI Sequence Detail 2368 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      2951 from dbSNP Build 142
    • PCR
    • RFLP
    Protein
    Information
    less
    • UniProt
      8 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
      IPR005448 Voltage-dependent calcium channel, P/Q-type, alpha-1 A
      IPR027359 Voltage-dependent channel domain superfamily
      IPR031649 Voltage-dependent L-type calcium channel, IQ-associated domain
    Molecular
    Reagents
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    • All nucleic 42
      Genomic 4
      cDNA 32
      Primer pair 5
      Other 1

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGD-MRK-11727, MGD-MRK-15048, MGD-MRK-35757, MGD-MRK-39481, MGI:1890949, MGI:3588957, MGI:5008654
    References
    more
    • Summaries
      All 332
      Developmental Gene Expression 12
      Diseases 11
      Gene Ontology 64
      Phenotypes 252
    • Earliest
      J:13049 Gruneberg H, Genetical studies on the skeleton of the mouse. XVIII. Three genes for syndactylism. J Genet. 1956;54:113-145
    • Latest
      J:261964 Nanou E, et al., Control of Excitation/Inhibition Balance in a Hippocampal Circuit by Calcium Sensor Protein Regulation of Presynaptic Calcium Channels. J Neurosci. 2018 May 2;38(18):4430-4440

    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
    07/10/2018
    MGI 6.12
    The Jackson Laboratory