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 NCBI 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; 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; chr12:1901123-2027870 (-)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human CACNA2D4

Alleles and phenotypes

All alleles(1) : Spontaneous(1)
 

Mice homozygous for a spontaneous mutation exhibit severe loss of retinal signaling associated with abnormal photoreceptor ribbon synapses and cone-rod dysfunction.

 

Gene Ontology (GO) classifications

All GO classifications: (10 annotations)

Process	calcium ion transmembrane transport, calcium ion transport, ...
Component	integral to membrane, membrane
Function	calcium channel activity, metal ion binding, ...

External Resources: FuncBase

Expression

Literature Summary: (1 records)
Data Summary: Results (11)    Tissues (5)   
Theiler Stages: 24, 28

Assay Type	Results
RT-PCR	11

cDNA source data(23)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(24) cDNA(23) Primer pair(1)
Microarray probesets(4)

Other database links

Ensembl Gene Model	ENSMUSG00000041460 (Evidence)
Entrez Gene	319734 (Evidence)
UniGene	440773
DFCI	TC1586973, TC1635904, TC1638599, TC1679768
DoTS	DT.101170435, DT.101724106, DT.521711, DT.91402166
NIA Mouse Gene Index	U227392
Consensus CDS Project	CCDS51886.1
International Mouse Knockout Project Status	Cacna2d4

Sequences

Length	Strain/Species
genomic	319734	NCBI Gene Model | MGI Sequence Detail	115882	C57BL/6J
transcript	NM_001033382	RefSeq | MGI Sequence Detail	5803	Not Specified
polypeptide	Q5RJF7	UniProt | EBI | MGI Sequence Detail	1116	Not Applicable

All sequences(28) RefSeq(2) UniProt(4)

Polymorphisms

SNPs(411 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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

Graphical View of Protein Domain Structure

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:153498 Diez-Roux G, et al., A high-resolution anatomical atlas of the transcriptome in the mouse embryo. PLoS Biol. 2011;9(1):e1000582
All references(29)

Other accession IDs

MGI:3529346