Homo sapiens Gene: CACNA2D2 | |||||||||||||||||||||
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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
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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] |
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Gene Information | |||||||||||||||||||||
Type | Protein coding | ||||||||||||||||||||
Genomic Location | Chromosome 3:50362799-50504244 | ||||||||||||||||||||
Strand | Reverse strand | ||||||||||||||||||||
Band | p21.31 | ||||||||||||||||||||
Transcripts | |||||||||||||||||||||
Interactions | |||||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
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Gene Ontology | |||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Orthologs | |||||||||||||||||||||
Species
Mus musculus
Bos taurus
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Gene ID
Gene Order
Not yet available
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Pathways | |||||||||||||||||||||
NETPATH | |||||||||||||||||||||
REACTOME |
Adrenaline,noradrenaline inhibits insulin secretion pathway
Regulation of insulin secretion pathway
Integration of energy metabolism pathway
Neuronal System pathway
Depolarization of the Presynaptic Terminal Triggers the Opening of Calcium Channels pathway
Transmission across Chemical Synapses pathway
Metabolism pathway
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KEGG |
MAPK signaling pathway pathway
Arrhythmogenic right ventricular cardiomyopathy (ARVC) pathway
Hypertrophic cardiomyopathy (HCM) pathway
Cardiac muscle contraction pathway
Dilated cardiomyopathy pathway
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INOH | |||||||||||||||||||||
PID NCI | |||||||||||||||||||||
Cross-References | |||||||||||||||||||||
SwissProt | |||||||||||||||||||||
TrEMBL | C9JE82 | ||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||
Entrez Gene | 9254 | ||||||||||||||||||||
UniGene | Hs.476273 Hs.692457 | ||||||||||||||||||||
RefSeq | XM_005265581 NM_001005505 NM_001174051 NM_001291101 NM_006030 | ||||||||||||||||||||
HUGO | HGNC:1400 | ||||||||||||||||||||
OMIM | 607082 | ||||||||||||||||||||
CCDS | CCDS33763 CCDS54588 CCDS63647 | ||||||||||||||||||||
HPRD | 06154 | ||||||||||||||||||||
IMGT | |||||||||||||||||||||
EMBL | AL450422 Z75742 Z75743 Z84492 Z84494 Z84495 | ||||||||||||||||||||
GenPept | |||||||||||||||||||||
RNA Seq Atlas | 9254 | ||||||||||||||||||||