CACNA2D2
Summary: 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].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:607082 Ensembl IDEnsembl:ENSG00000007402 HGNC IDHGNC:HGNC:1400 PHARMGKB IDPA26012 Map Location3p21.31 | |||||
GO terms in CACNA2D2
Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| BP | IEA | GO:0007528 | neuromuscular junction development |
| BP | IEA | GO:0034765 | regulation of ion transmembrane transport |
| BP | IEA | GO:0040014 | regulation of multicellular organism growth |
| BP | IEA | GO:0046622 | positive regulation of organ growth |
| BP | IEA | GO:0048747 | muscle fiber development |
| BP | TAS | GO:0050796 | regulation of insulin secretion |
Gene expression in normal tissue: CACNA2D2
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in CACNA2D2
Database | Pathway ID | Pathway Des. |
|---|---|---|
| pharmgkb | PA152241951 | Celecoxib Pathway, Pharmacodynamics |
| kegg | hsa04010 | MAPK signaling pathway - Homo sapiens (human) |
| kegg | hsa04260 | Cardiac muscle contraction - Homo sapiens (human) |
| kegg | hsa04261 | Adrenergic signaling in cardiomyocytes - Homo sapiens (human) |
| kegg | hsa04921 | Oxytocin signaling pathway - Homo sapiens (human) |
| kegg | hsa05410 | Hypertrophic cardiomyopathy (HCM) - Homo sapiens (human) |
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in CACNA2D2
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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