InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: CACNA2D4

Summary

InnateDB Protein

IDBP-11942.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

CACNA2D4

Protein Name

calcium channel, voltage-dependent, alpha 2/delta subunit 4

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000372169

InnateDB Gene

IDBG-11938 (CACNA2D4)

Protein Structure

UniProt Annotation

Function

The alpha-2/delta subunit of voltage-dependent calcium channels regulates calcium current density and activation/inactivation kinetics of the calcium channel. {ECO:0000269PubMed:12181424}.

Subcellular Localization

Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.

Disease Associations

Retinal cone dystrophy 4 (RCD4) [MIM:610478]: Characterized by minimal symptoms except for slowly progressive reduction in visual acuity. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Predominantly expressed in certain types of endocrine cells. Present in the Paneth cells of the small intestine. Also present in the erythroblasts in the fetal liver, in the cells of the zona reticularis of the adrenal gland and in the basophils of the pituitary. Present at low level in some brain regions such as the cerebellum (at protein level). {ECO:0000269PubMed:12181424}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005245	voltage-gated calcium channel activity
GO:0046872	metal ion binding

Biological Process

GO:0034765	regulation of ion transmembrane transport
GO:0050908	detection of light stimulus involved in visual perception
GO:0070588	calcium ion transmembrane transport