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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
  • Alliance
    gene page
  • Transcription Start Sites
    24 TSS
Location &
Maps
more
  • Sequence Map
    Chr14:29761898-30213113 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 14, 18.43 cM, cytoband B
  • Mapping Data
    13 experiments
Strain
Comparison
more
  • SNPs within 2kb
    2081 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    3
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_88293
 protein coding gene Chr14:29761896-30213412 (-)
129S1/SvImJ MGP_129S1SvImJ_G0021102
 protein coding gene Chr14:23144639-23617330 (-)
A/J MGP_AJ_G0021050
 protein coding gene Chr14:22273172-22738573 (-)
AKR/J MGP_AKRJ_G0021027
 protein coding gene Chr14:23366696-23844247 (-)
BALB/cJ MGP_BALBcJ_G0021054
 protein coding gene Chr14:22365911-22831764 (-)
C3H/HeJ MGP_C3HHeJ_G0020837
 protein coding gene Chr14:23226972-23699555 (-)
C57BL/6NJ MGP_C57BL6NJ_G0021486
 protein coding gene Chr14:24063068-24554025 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0019049
 protein coding gene Chr14:22346653-22804798 (-)
CAST/EiJ MGP_CASTEiJ_G0020362
 protein coding gene Chr14:22946649-23438302 (-)
CBA/J MGP_CBAJ_G0020804
 protein coding gene Chr14:24988758-25504140 (-)
DBA/2J MGP_DBA2J_G0020926
 protein coding gene Chr14:22317159-22771241 (-)
FVB/NJ MGP_FVBNJ_G0020910
 protein coding gene Chr14:22265219-22727649 (-)
LP/J MGP_LPJ_G0020995
 protein coding gene Chr14:23464180-23938656 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0020936
 protein coding gene Chr14:24299477-24780932 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0021519
 protein coding gene Chr14:23122908-23587871 (-)
PWK/PhJ MGP_PWKPhJ_G0020110
 protein coding gene Chr14:21743783-22201875 (-)
SPRET/EiJ MGP_SPRETEiJ_G0019934
 protein coding gene Chr14:22686116-23177911 (-)
WSB/EiJ MGP_WSBEiJ_G0020417
 protein coding gene Chr14:23180588-23652175 (-)



Homology
more
  • Human Ortholog
    CACNA1D, calcium voltage-gated channel subunit alpha1 D
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    CACNA1D, calcium voltage-gated channel subunit alpha1 D
  • Synonyms
    CACH3, CACN4, CACNL1A2, Cav1.3, CCHL1A2, PASNA, SANDD
  • Links
    NCBI Gene ID: 776
    neXtProt AC: NX_Q01668
    UniProt: Q01668

  • Chr Location
    3p21.1; chr3:53328963-53813733 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with human CACNA1D associations

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

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    54 phenotypes from 3 alleles in 4 genetic backgrounds
    1 phenotype from multigenic genotypes
    63 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 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
less
  • All GO Annotations
    62
  • GO References
    19
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
non-membrane-bounded 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
    885
  • Tissues
    56
  • cDNA Data
    13
  • Literature Summary
    34
  • Comparison Matrix
    Gene Expression + Phenotype
    • 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 ZRU/MplStud  
    polypeptide Q99246 UniProt | EBI | MGI Sequence Detail 2179 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      13 Sequences
    • Protein Ontology
      PR:000002114 voltage-dependent L-type calcium channel subunit alpha-1D
      (term hierarchy)
    • 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 28
      cDNA 18
      Primer pair 9
      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 164
      Developmental Gene Expression 34
      Gene Ontology 19
      Phenotypes 63
    • 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:342564 Ortner NJ, et al., The human channel gating-modifying A749G CACNA1D (Cav1.3) variant induces a neurodevelopmental syndrome-like phenotype in mice. JCI Insight. 2023 Oct 23;8(20)
    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)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    04/16/2024
    MGI 6.23     		The Jackson Laboratory