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Cacna1d Gene Detail
 Symbol
Name
ID
Cacna1d
calcium channel, voltage-dependent, L type, alpha 1D subunit
MGI:88293


Nomenclature History
Synonyms 8430418G19Rik, C79217, Cacnl1a2, Cav1.3alpha1, Cchl1a, Cchl1a2, D-LTCC
Genetic Map
Chromosome 14
8.0 cM, cytoband B
Detailed Genetic Map ± 1 cM
 
Mapping data( 13)

Sequence Map
Chr14:30853135-31304342 bp, - strand
(From Ensembl annotation of NCBI Build 37)
Ensembl ContigView | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser
Mammalian
homology
human; chimpanzee; cattle; dog, domestic; rabbit, European; rat    (Mammalian Orthology)
Comparative Map (Mouse/Human Cacna1d ± 2 cM)
Protein SuperFamily: voltage-gated calcium channel
TreeFam: TF312805
Sequences
Representative Sequences Length Strain/Species Flank
genomic ENSMUSG00000015968 Ensembl Gene Model | MGI Sequence Detail 451208 C57BL/6J ± Kb
transcript NM_001083616 RefSeq | MGI Sequence Detail 9079 C57BL/6
polypeptide Q99246 UniProt | EBI | MGI Sequence Detail 2179 Not Applicable
For the selected sequences
All sequences(25)
Alleles
and
phenotypes
All alleles(7) : Targeted, knock-out(2) Gene trapped(5)
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.
Polymorphisms RFLP(3) SNPs within 2kb(1830 from dbSNP Build 128)  
Gene Ontology
(GO)
classifications
All GO classifications(23)
Process calcium ion transport, G-protein signaling, coupled to cAMP nucleotide second messenger...
Component integral to membrane, integral to plasma membrane...
Function calcium channel activity, calcium ion binding...
External Resources: MouseFunc
Expression Literature Summary: (8 records)
Data Summary: Assays (5)    Results (16)    Tissues (5)    Images (4)
Theiler Stages: 15,20,23,25,28
  Assay Type Assays   Results
      Western blot 1   2
      RT-PCR 4   14
cDNA source data(36)
External Resources: Allen Brain Atlas  GEO 
Molecular
reagents
All nucleic(42) cDNA(37) Primer pair(4) Other(1) Antibodies(1)
Microarray probesets(3)
Other database
links
Ensembl Gene Model ENSMUSG00000015968
UniGene 9772
NIA Mouse Gene Index U035355
Entrez Gene 12289
International Mouse Knockout Project Status Cacna1d
Protein
domains
InterPro ID Description
IPR002077 Voltage-dependent calcium channel, alpha-1 subunit
IPR005446 Voltage-dependent calcium channel, L-type, alpha-1 subunit
IPR005452 Voltage-dependent calcium channel, L-type, alpha-1D subunit
IPR005821 Ion transport
IPR014873 Voltage-dependent calcium channel, alpha-1 subunit, IQ domain
Graphical View of Protein Domain Structure
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:142607 Mancarella S et al., "Impaired Ca2+ homeostasis is associated with atrial fibrillation in the alpha1D L-type Ca2+ channel KO mouse." Am J Physiol Heart Circ Physiol 2008 Nov;295(5):H2017-24
All references(50)
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
11/20/2009
MGI_4.31
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The Jackson Laboratory