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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
Location & Maps
more
  • Sequence Map
    Chr14:30039949-30491156 bp, - strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      451208 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

  • Chr Location
    3p14.3; chr3:53494976-53813151 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    2 with human CACNA1D associations

Human Disease Mouse Models
       Primary Aldosteronism, Seizures, and Neurologic Abnormalities; PASNA   OMIM: 615474
Sinoatrial Node Dysfunction and Deafness; SANDD   OMIM: 614896
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    45 phenotypes from 3 alleles in 4 genetic backgrounds
    37 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
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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
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
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000015968 Ensembl Gene Model | MGI Sequence Detail 451208 C57BL/6J ±  kb
transcript ENSMUST00000112250 Ensembl | MGI Sequence Detail 8680 Not Applicable  
polypeptide ENSMUSP00000107869 Ensembl | MGI Sequence Detail 2166 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    2081 from dbSNP Build 142
  • RFLP
Protein
Information
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  • UniProt
    3 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, four helix bundle domain
    IPR031649 Voltage-dependent L-type calcium channel, IQ-associated domain
    IPR031688 Voltage-gated calcium channel subunit alpha, C-terminal
Molecular
Reagents
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  • All nucleic 24
    cDNA 17
    Primer pair 6
    Other 1

    Microarray probesets 6
Other
Accession IDs
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MGD-MRK-1798, MGD-MRK-1799, MGD-MRK-18686, MGI:1921774, MGI:2145861
References
more
  • Summaries
    All 109
    Developmental Gene Expression 20
    Gene Ontology 14
    Phenotypes 37
  • 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:230439 Mesirca P, et al., G protein-gated IKACh channels as therapeutic targets for treatment of sick sinus syndrome and heart block. Proc Natl Acad Sci U S A. 2016 Feb 16;113(7):E932-41

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
09/20/2016
MGI 6.05
The Jackson Laboratory