Homo sapiens Gene: CACNA2D2
Summary
InnateDB Gene IDBG-37017.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol CACNA2D2
Gene Name calcium channel, voltage-dependent, alpha 2/delta subunit 2
Synonyms CACNA2D;
Species Homo sapiens
Ensembl Gene ENSG00000007402
Encoded Proteins
calcium channel, voltage-dependent, alpha 2/delta subunit 2
calcium channel, voltage-dependent, alpha 2/delta subunit 2
calcium channel, voltage-dependent, alpha 2/delta subunit 2
calcium channel, voltage-dependent, alpha 2/delta subunit 2
calcium channel, voltage-dependent, alpha 2/delta subunit 2
calcium channel, voltage-dependent, alpha 2/delta subunit 2
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
Calcium channels mediate the entry of calcium ions into the cell upon membrane polarization. This gene encodes the alpha-2/delta subunit of the voltage-dependent calcium channel complex. The complex consists of the main channel-forming subunit alpha-1, and auxiliary subunits alpha-2/delta, beta, and gamma. The auxiliary subunits function in the assembly and membrane localization of the complex, and modulate calcium currents and channel activation/inactivation kinetics. The subunit encoded by this gene undergoes post-translational cleavage to yield the extracellular alpha2 peptide and a membrane-anchored delta polypeptide. This subunit is a receptor for the antiepileptic drug, gabapentin. Mutations in this gene are associated with early infantile epileptic encephalopathy. Single nucleotide polymorphisms in this gene are correlated with increased sensitivity to opioid drugs. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014]
Gene Information
Type Protein coding
Genomic Location Chromosome 3:50362799-50504244
Strand Reverse strand
Band p21.31
Transcripts
ENST00000360963 ENSP00000354228
ENST00000266039 ENSP00000266039
ENST00000424201 ENSP00000390329
ENST00000429770 ENSP00000404631
ENST00000423994 ENSP00000407393
ENST00000483620
ENST00000479441 ENSP00000418081
ENST00000487413
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
Experimentally validated
Total 2 [view]
Protein-Protein 1 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005245 voltage-gated calcium channel activity
GO:0046872 metal ion binding
Biological Process
GO:0006112 energy reserve metabolic process
GO:0007528 neuromuscular junction development
GO:0034765 regulation of ion transmembrane transport
GO:0040014 regulation of multicellular organism growth
GO:0044281 small molecule metabolic process
GO:0046622 positive regulation of organ growth
GO:0048747 muscle fiber development
GO:0050796 regulation of insulin secretion
GO:0060024 rhythmic synaptic transmission
GO:0070588 calcium ion transmembrane transport
Cellular Component
GO:0005886 plasma membrane
GO:0005891 voltage-gated calcium channel complex
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Integration of energy metabolism pathway
Adrenaline,noradrenaline inhibits insulin secretion pathway
Neuronal System pathway
Depolarization of the Presynaptic Terminal Triggers the Opening of Calcium Channels pathway
Transmission across Chemical Synapses pathway
Regulation of insulin secretion pathway
Metabolism pathway
KEGG
MAPK signaling pathway pathway
Cardiac muscle contraction pathway
Hypertrophic cardiomyopathy (HCM) pathway
Arrhythmogenic right ventricular cardiomyopathy (ARVC) pathway
Dilated cardiomyopathy pathway
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt Q9NY47
TrEMBL
UniProt Splice Variant
Entrez Gene 9254
UniGene Hs.476273 Hs.692457
RefSeq NM_001174051 NM_001291101 NM_001005505 NM_006030 XM_005265581
HUGO HGNC:1400
OMIM 607082
CCDS CCDS54588 CCDS63647 CCDS33763
HPRD 06154
IMGT
EMBL AB011130 AF040709 AF042792 AF042793 AJ251367 AJ251368 AL450422 BC152438 CH471055 Z75742 Z75743 Z84492 Z84494 Z84495
GenPept AAB96913 AAB96914 AAC70914 AAI52439 BAA25484 CAB86192 CAB86193 EAW65121
RNA Seq Atlas 9254