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Details on Person UniProt:Q9NY47 CACNA2D2
| Class:Id | ReferenceGeneProduct:210362 |
|---|---|
| _chainChangeLog | signal peptide:1-18 added on Fri February 6 2015;chain:19-1150 added on Fri February 6 2015;chain:19-1001 added on Fri February 6 2015;chain:1002-1150 added on Fri February 6 2015 |
| _displayName | UniProt:Q9NY47 CACNA2D2 |
| _timestamp | 2024-11-03 20:04:35 |
| chain | signal peptide:1-18 chain:19-1150 chain:19-1001 chain:1002-1150 |
| checksum | 502B86A5E6279AA0 |
| comment | FUNCTION The alpha-2/delta subunit of voltage-dependent calcium channels regulates calcium current density and activation/inactivation kinetics of the calcium channel. Acts as a regulatory subunit for P/Q-type calcium channel (CACNA1A), N-type (CACNA1B), L-type (CACNA1C OR CACNA1D) and possibly T-type (CACNA1G) (PubMed:15111129, PubMed:23339110). Overexpression induces apoptosis.SUBUNIT Dimer formed of alpha-2-2 and delta-2 chains; disulfide-linked. Voltage-dependent calcium channels are multisubunit complexes, consisting of alpha-1 (CACNA1), alpha-2 (CACNA2D), beta (CACNB) and delta (CACNA2D) subunits in a 1:1:1:1 ratio (By similarity).SUBCELLULAR LOCATION Colocalizes with CACNA1A in lipid raft fractions.ALTERNATIVE PRODUCTS Predominantly present in cerebellar cortex. Present in various lung tumor cell lines, while it is absent in normal lung (at protein level). Highly expressed in heart, lung, testis, pancreas and skeletal muscle. Also expressed in kidney, liver, placenta and brain.DOMAIN The MIDAS-like motif in the VWFA domain binds divalent metal cations and is required to promote trafficking of the alpha-1 (CACNA1) subunit to the plasma membrane by an integrin-like switch.PTM May be proteolytically processed into subunits alpha-2-2 and delta-2 that are disulfide-linked. It is however unclear whether such cleavage really takes place in vivo and has a functional role (By similarity).DISEASE The disease is caused by variants affecting the gene represented in this entry.MISCELLANEOUS Binds gabapentin, an antiepileptic drug.SIMILARITY Belongs to the calcium channel subunit alpha-2/delta family. |
| created | [InstanceEdit:210485] 2008-01-14 10:59:03 |
| description | recommendedName: Voltage-dependent calcium channel subunit alpha-2/delta-2 alternativeName: Voltage-gated calcium channel subunit alpha-2/delta-2 component recommendedName: Voltage-dependent calcium channel subunit alpha-2-2 /component component recommendedName: Voltage-dependent calcium channel subunit delta-2 /component |
| geneName | CACNA2D2 KIAA0558 |
| identifier | Q9NY47 |
| isSequenceChanged | FALSE |
| keyword | Alternative splicing Calcium Calcium channel Calcium transport Disease variant Disulfide bond Epilepsy Glycoprotein Ion channel Ion transport Membrane Metal-binding Proteomics identification Reference proteome Signal Transmembrane Transmembrane helix Transport Voltage-gated channel |
| modified | [InstanceEdit:9836292] Weiser, Joel, 2023-05-25 [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 [InstanceEdit:9926675] Weiser, Joel, 2024-11-03 |
| name | CACNA2D2 |
| referenceDatabase | [ReferenceDatabase:2] UniProt |
| referenceGene | [ReferenceDNASequence:8998772] ENSEMBL:ENSG00000007402 CACNA2D2 [Homo sapiens] |
| secondaryIdentifier | CA2D2_HUMAN A7MD15 Q9NY48 Q9UEW0 Q9Y268 |
| sequenceLength | 1150 |
| species | [Species:48887] Homo sapiens |
| (isoformParent) | [ReferenceIsoform:221033] UniProt:Q9NY47-2 CACNA2D2 [Homo sapiens] [ReferenceIsoform:221034] UniProt:Q9NY47-3 CACNA2D2 [Homo sapiens] [ReferenceIsoform:221035] UniProt:Q9NY47-4 CACNA2D2 [Homo sapiens] [ReferenceIsoform:221036] UniProt:Q9NY47-5 CACNA2D2 [Homo sapiens] [ReferenceIsoform:414902] UniProt:Q9NY47-1 CACNA2D2 [Homo sapiens] |
| (referenceEntity) | [EntityWithAccessionedSequence:210446] CACNA2D2(19-1150) [extracellular region] [Homo sapiens] [EntityWithAccessionedSequence:265749] CACNA2D2(19-1150) [plasma membrane] [Homo sapiens] [EntityWithAccessionedSequence:5577141] CACNA2D2(1002-1150) [plasma membrane] [Homo sapiens] [EntityWithAccessionedSequence:5577186] CACNA2D2(19-1001) [plasma membrane] [Homo sapiens] |
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No pathways have been reviewed or authored by UniProt:Q9NY47 CACNA2D2 (210362)
