CACNA2D4

CACNA2D4
Identifiers
Aliases	CACNA2D4, RCD4, calcium voltage-gated channel auxiliary subunit alpha2delta 4
External IDs	OMIM: 608171; MGI: 2442632; HomoloGene: 26544; GeneCards: CACNA2D4; OMA:CACNA2D4 - orthologs
Gene location (Human)
Chr.	Chromosome 12 (human)
End	1,918,666 bp
Gene location (Mouse)
Chr.	Chromosome 6 (mouse)
End	119,329,368 bp
RNA expression pattern
	Top expressed in
	monocyte; ; granulocyte; ; blood; ; testicle; ; right testis; ; appendix; ; left testis; ; tibial nerve; ; gonad; ; subcutaneous adipose tissue;
	Top expressed in
	neural layer of retina; ; epithelium of lens; ; pineal gland; ; otolith organ; ; utricle; ; retinal pigment epithelium; ; tibialis anterior muscle; ; muscle of thigh; ; blood; ; vastus lateralis muscle;
	More reference expression data
	n/a
Gene ontology
Molecular function	voltage-gated calcium channel activity; metal ion binding; voltage-gated ion channel activity; calcium channel activity;
Cellular component	voltage-gated calcium channel complex; integral component of membrane; plasma membrane; membrane;
Biological process	regulation of ion transmembrane transport; ion transport; calcium ion transmembrane transport; detection of light stimulus involved in visual perception; calcium ion transport; cardiac conduction;
	Sources:Amigo / QuickGO
Orthologs
	93589
	319734
	ENSG00000151062; ENSG00000284953
	ENSMUSG00000041460
	Q7Z3S7
	Q5RJF7
	NM_001005737; NM_001005766; NM_172364
	NM_001033382; NM_001347427; NM_001362214
	NP_758952
NP_001028554; NP_001334356; NP_001349143; NP_001391287; NP_001391288;
	NP_001391289; NP_001391290
	Wikidata
View/Edit Human	View/Edit Mouse

Calcium channel, voltage-dependent, alpha 2/delta subunit 4 is a protein that in humans is encoded by the CACNA2D4 gene.^[5]

Function

This gene encodes a member of the alpha-2/delta subunit family, a protein in the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Various versions of each of these subunits exist, either expressed from similar genes or the result of alternative splicing. Research on a highly similar protein in rabbit suggests the protein described in this record is cleaved into alpha-2 and delta subunits. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized.^[5]

References

^ ^a ^b ^c ENSG00000284953 GRCh38: Ensembl release 89: ENSG00000151062, ENSG00000284953 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000041460 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ ^a ^b "Entrez Gene: Calcium channel, voltage-dependent, alpha 2/delta subunit 4".

External links

Human CACNA2D4 genome location and CACNA2D4 gene details page in the UCSC Genome Browser.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

This article on a gene on human chromosome 12 is a stub. You can help Wikipedia by expanding it.

[refGRCh38Ensembl-1] ENSG00000284953 GRCh38: Ensembl release 89: ENSG00000151062, ENSG00000284953 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000041460 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[entrez-5] "Entrez Gene: Calcium channel, voltage-dependent, alpha 2/delta subunit 4".

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Function

References

Further reading

External links