Homo sapiens Protein: CACNA2D4
Summary
InnateDB Protein IDBP-583349.3
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 ENSP00000443038
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.
Protein Structure and Domains
PDB ID
InterPro
PFAM
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt
PhosphoSite PhosphoSite-Q7Z3S7
TrEMBL X6RLY7
UniProt Splice Variant
Entrez Gene 93589
UniGene Hs.13768
RefSeq
HUGO HGNC:20202
OMIM 608171
CCDS
HPRD 12182
IMGT
EMBL AC005342 AC005343
GenPept