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Cacna1d
Gene Detail
 Symbol
Name
ID
Cacna1d
calcium channel, voltage-dependent, L type, alpha 1D subunit
MGI:88293
Synonyms 8430418G19Rik, C79217, Cacnl1a2, Cav1.3alpha1, Cchl1a, Cchl1a2, D-LTCC
Feature Type protein coding gene
Genetic Map
Chromosome 14
18.43 cM, cytoband B
Detailed Genetic Map ± 1 cM


Mapping data(13)
Sequence Map
Chr14:30039949-30491156 bp, - strand
From Ensembl annotation of GRCm38

  451208 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:578  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Protein SuperFamily: voltage-gated calcium channel
Gene Tree: Cacna1d

Human
homologs
Human Homolog CACNA1D, calcium channel, voltage-dependent, L type, alpha 1D subunit
NCBI Gene ID 776
neXtProt AC  NX_Q01668
Human Synonyms  CACH3, CACN4, CACNL1A2, Cav1.3, CCHL1A2, PASNA, SANDD
Human Chr (Location)  3p14.3; chr3:53495049-53813152 (+)  GRCh38
Disease Associations  (2) Diseases Associated with Human CACNA1D
Alleles
and
phenotypes
All alleles(11) : Gene trapped(6) Targeted(5)
Incidental mutations (data from Mutagenetix , APF )
 
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
All GO classifications: (59 annotations)
Process adenylate cyclase-modulating G-protein coupled receptor signaling pathway, calcium ion import, ...
Component apical plasma membrane, dendrite, ...
Function alpha-actinin binding, ankyrin binding, ...
External Resources: FuncBase
Expression
Literature Summary: (18 records)
Data Summary: Results (138)    Tissues (38)    Images (29)
Theiler Stages: 15, 20, 23, 24, 25, 26, 28
Assay TypeResults
RNA in situ 109
Western blot 4
RT-PCR 25
cDNA source data(16)
External Resources: Allen Institute   GEO   ArrayExpress
Molecular
reagents
All nucleic(23) cDNA(17) Primer pair(5) Other(1)
Microarray probesets(6)
Other database
links
Ensembl Gene ModelENSMUSG00000015968 (Evidence)
Entrez Gene12289 (Evidence)
NIA Mouse Gene IndexU035355
Consensus CDS ProjectCCDS36846.1, CCDS36847.1
International Mouse Knockout Project StatusCacna1d
Sequences
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 sequences
All sequences(59) RefSeq(32) UniProt(3)
Polymorphisms RFLP(3) : SNPs within 2kb(2089 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR005821 Ion transport domain
InterPro IPR002077 Voltage-dependent calcium channel, alpha-1 subunit
InterPro IPR014873 Voltage-dependent calcium channel, alpha-1 subunit, IQ domain
InterPro IPR005452 Voltage-dependent calcium channel, L-type, alpha-1D subunit
InterPro IPR005446 Voltage-dependent calcium channel, L-type, alpha-1 subunit
InterPro IPR027359 Voltage-dependent potassium channel, four helix bundle domain
Protein Ontology PR:000002114 voltage-dependent L-type calcium channel subunit alpha-1D
References (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:206966 Etemad S, et al., Differential neuronal targeting of a new and two known calcium channel beta4 subunit splice variants correlates with their regulation of gene expression. J Neurosci. 2014 Jan 22;34(4):1446-61
All references(105)
Other
accession IDs
MGD-MRK-1798, MGD-MRK-1799, MGD-MRK-18686, MGI:1921774, MGI:2145861

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
07/15/2014
MGI 5.18
The Jackson Laboratory