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Cacna1d Gene Detail
Summary
  • Symbol
    Cacna1d
  • Name
    calcium channel, voltage-dependent, L type, alpha 1D subunit
  • Synonyms
    8430418G19Rik, C79217, Cacnl1a2, Cav1.3alpha1, Cchl1a, Cchl1a2, D-LTCC
  • Feature Type
    protein coding gene
  • IDs
    MGI:88293
    NCBI Gene: 12289
  • Gene Overview
    MyGene.info: CACNA1D
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr14:30039941-30491156 bp, - strand
  • From NCBI annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      451216 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 14, 18.43 cM, cytoband B
  • Mapping Data
    13 experiments
Homology
more
  • Human Ortholog
    CACNA1D, calcium voltage-gated channel subunit alpha1 D
  • Vertebrate Orthologs
    9
  • Human Ortholog
    CACNA1D, calcium voltage-gated channel subunit alpha1 D
    Orthology source: HomoloGene, HGNC
  • Synonyms
    CACH3, CACN4, CACNL1A2, Cav1.3, CCHL1A2, PASNA, SANDD
  • Links
    NCBI Gene ID: 776
    neXtProt AC: NX_Q01668
    UniProt: Q01668

  • Chr Location
    3p21.1; chr3:53495049-53813151 (+)  GRCh38.p7

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    53 phenotypes from 3 alleles in 4 genetic backgrounds
    1 phenotype from multigenic genotypes
    43 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.
Homozygotes for targeted mutations exhibit small size, hypoinsulinemia, glucose intolerance, decreased number and size of pancreatic islets, deafness with degeneration of hair cells, bradycardia, and arrhythmia.
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
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 12289 NCBI Gene Model | MGI Sequence Detail 451216 C57BL/6J ±  kb
    transcript NM_001302637 RefSeq | MGI Sequence Detail 9180 C57BL/6  
    polypeptide Q99246 UniProt | EBI | MGI Sequence Detail 2179 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      2081 from dbSNP Build 142
    • RFLP
    Protein
    Information
    less
    • UniProt
      7 Sequences
    • Protein Ontology
      PR:000002114 voltage-dependent L-type calcium channel subunit alpha-1D
    • InterPro Domains
      IPR005821 Ion transport domain
      IPR002077 Voltage-dependent calcium channel, alpha-1 subunit
      IPR014873 Voltage-dependent calcium channel, alpha-1 subunit, IQ domain
      IPR005452 Voltage-dependent calcium channel, L-type, alpha-1D 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 25
      cDNA 18
      Primer pair 6
      Other 1

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGD-MRK-1798, MGD-MRK-1799, MGD-MRK-18686, MGI:1921774, MGI:2145861
    References
    more
    • Summaries
      All 132
      Developmental Gene Expression 25
      Gene Ontology 17
      Phenotypes 43
    • 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:256047 Chu HY, et al., Loss of Hyperdirect Pathway Cortico-Subthalamic Inputs Following Degeneration of Midbrain Dopamine Neurons. Neuron. 2017 Sep 13;95(6):1306-1318.e5

    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