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Cacna2d4
Gene Detail
 Symbol
Name
ID
Cacna2d4
calcium channel, voltage-dependent, alpha 2/delta subunit 4
MGI:2442632
Synonyms 5730412N02Rik
Feature Type protein coding gene
Genetic Map
Chromosome 6
56.62 cM
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr6:119236526-119352407 bp, + strand
From VEGA annotation of GRCm38

  115882 bp   ±  kb flank

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


Mouse Genome Browser
Vertebrate
homology
HomoloGene:26544  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: Cacna2d4

Human
homologs
Human Homolog CACNA2D4, calcium channel, voltage-dependent, alpha 2/delta subunit 4
NCBI Gene ID 93589
neXtProt AC  NX_Q7Z3S7
Human Synonyms  RCD4
Human Chr (Location)  12p13.33; chr12:1791957-1918704 (-)  GRCh38
Disease Associations  (1) Diseases Associated with Human CACNA2D4
Mutations,
alleles, and
phenotypes
All mutations/alleles(3) : Spontaneous(1) Targeted(2)
Incidental mutations (data from Mutagenetix , APF )
 
Mice homozygous for a spontaneous mutation exhibit severe loss of retinal signaling associated with abnormal photoreceptor ribbon synapses and cone-rod dysfunction.
 
Interactions
Cacna2d4 interacts with 258 markers (Mir7-1, Mir7-2, Mir7b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (13 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: (2 records)
Data Summary: Results (11)    Tissues (7)   
Theiler Stages: 24, 27, 28
Assay TypeResults
RT-PCR 11
cDNA source data(23)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(24) cDNA(23) Primer pair(1)
Microarray probesets(4)
Other database
links
VEGA Gene ModelOTTMUSG00000049377 (Evidence)
Ensembl Gene ModelENSMUSG00000041460 (Evidence)
Entrez Gene319734 (Evidence)
UniGene440773
DFCITC1586973, TC1635904, TC1638599, TC1679768
DoTSDT.101170435, DT.101724106, DT.521711, DT.91402166
NIA Mouse Gene IndexU227392
Consensus CDS ProjectCCDS51886.1
International Mouse Knockout Project StatusCacna2d4
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000049377 VEGA Gene Model | MGI Sequence Detail 115882 C57BL/6J ±  kb
transcript OTTMUST00000125861 VEGA | MGI Sequence Detail 5803 Not Applicable 
polypeptide OTTMUSP00000068117 VEGA | MGI Sequence Detail 1144 Not Applicable 

For the selected sequences
All sequences(45) RefSeq(6) UniProt(4)
Polymorphisms SNPs within 2kb(790 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR004010 Cache domain
InterPro IPR002035 von Willebrand factor, type A
InterPro IPR013608 VWA N-terminal
Protein Ontology PR:000004945 voltage-dependent calcium channel subunit alpha-2/delta-4
References (Earliest) J:65548 Ruether K, et al., Abnormalities of the photoreceptor-bipolar cell synapse in a substrain of C57BL/10 mice. Invest Ophthalmol Vis Sci. 2000 Nov;41(12):4039-47
(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(32)
Other
accession IDs
MGI:3529346

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
08/26/2014
MGI 5.19
The Jackson Laboratory