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Cacna2d2
Gene Detail
Symbol

Name
ID
Cacna2d2
calcium channel, voltage-dependent, alpha 2/delta subunit 2
MGI:1929813
Synonyms
a2d2, nmf299
Feature Type
protein coding gene
Genetic Map
Chromosome 9
58.02 cM
Detailed Genetic Map ± 1 cM


Mapping data(18)
Sequence Map
Chr9:107399612-107529346 bp, + strand
From VEGA annotation of GRCm38

  129735 bp   ±  kb flank

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


Mouse Genome Browser
Vertebrate
homology
HomoloGene:4400  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 2 zebrafish

Protein SuperFamily: voltage-dependent calcium channel fused subunit
Gene Tree: Cacna2d2

Human
homologs
Human Homolog CACNA2D2, calcium channel, voltage-dependent, alpha 2/delta subunit 2
NCBI Gene ID 9254
neXtProt AC  NX_Q9NY47
Human Synonyms  CACNA2D
Human Chr (Location)  3p21.3; chr3:50362799-50503461 (-)  GRCh38
Mutations,
alleles, and
phenotypes
All mutations/alleles(10) : Chemically induced (ENU)(1) Gene trapped(2) Spontaneous(4) Targeted(3)
Incidental mutations (data from Mutagenetix , APF )
 
Homozygotes for different mutant alleles show variable movement abnormalities including waddling, reeling or very slow gait, ataxia, and mild spike-wave seizures. While gross CNS abnormalities and demyelination are present in some mutant lines, they are not observed in others.
 
Human Diseases Modeled Using Mouse Cacna2d2 (1)    Alleles Annotated to Human Diseases(1)    Phenotype Images(1)
Interactions
Cacna2d2 interacts with 293 markers (Mir1a-1, Mir1a-2, Mir7-1, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (19 annotations)
Process calcium ion transmembrane transport, calcium ion transport, ...
Component integral component of membrane, membrane, ...
Function calcium channel activity, metal ion binding, ...
External Resources: FuncBase
Expression
Literature Summary: (10 records)
Data Summary: Results (270)    Tissues (66)    Images (38)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 256
RT-PCR 14
cDNA source data(39)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(48) Genomic(7) cDNA(39) Primer pair(2)
Microarray probesets(5)
Other database
links
VEGA Gene ModelOTTMUSG00000036844 (Evidence)
Ensembl Gene ModelENSMUSG00000010066 (Evidence)
Entrez Gene56808 (Evidence)
UniGene273084
DFCITC1585305, TC1588607, TC1642688, TC1593028
DoTSDT.101377196, DT.102555689, DT.40155374, DT.91568353, DT.94236118
NIA Mouse Gene IndexU010989
Consensus CDS ProjectCCDS52916.1, CCDS52917.1, CCDS72304.1, CCDS72305.1
International Mouse Knockout Project StatusCacna2d2
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000036844 VEGA Gene Model | MGI Sequence Detail 129735 C57BL/6J ±  kb
transcript OTTMUST00000094617 VEGA | MGI Sequence Detail 3474 Not Applicable 
polypeptide OTTMUSP00000052660 VEGA | MGI Sequence Detail 1157 Not Applicable 

For the selected sequences
All sequences(75) RefSeq(14) UniProt(5)
Polymorphisms
SNPs within 2kb(1183 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR004010 Cache domain
InterPro IPR013680 Voltage-dependent calcium channel, alpha-2/delta subunit, conserved region
InterPro IPR002035 von Willebrand factor, type A
InterPro IPR013608 VWA N-terminal
Protein Ontology PR:000004943 voltage-dependent calcium channel subunit alpha-2/delta-2
References
(Earliest) J:116 Snell GD, Ducky, a new second chromosome mutation in the mouse. J Hered. 1955;46:27-29
(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(72)
Disease annotation references (1)
Other
accession IDs
MGD-MRK-14978, MGD-MRK-8913, MGI:94935

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
12/09/2014
MGI 5.20
The Jackson Laboratory