GeneID: 240

Description:
This gene encodes a member of the alpha2delta (α2δ) subunit, a key component of voltage-gated calcium channels (VGCCs). There are four mammalian α2δ subunit genes, CACNA2D1 to CACNA2D4, which undergo alternative splicing to expand the α2δ subunit functional repertoire. They are expressed widely in the nervous system. The CACNA2D3 gene encodes α2δ-3, which is expressed throughout rat brain, particularly in the hippocampus, cerebral cortex and caudate putamen. The VGCC α2δ subunit is called an auxiliary or accessory subunit since it is not involved directly in channel function but rather exerts modulatory influences on channels, affecting their trafficking, biophysical properties or pharmacology. The α2δ subunit regulates calcium current density and activation/inactivation kinetics of the calcium channel. A polymorphism in the CACNA2D3 gene has been associated with painful vaso-occlusive crisis episodes and hospitalisation rates in sickle cell disease.

Synonyms: HSA272268

Comments:
N/A

Number of entries/variants: 1

1. Dolphin AC, Calcium channel auxiliary α2δ and β subunits: trafficking and one step beyond., Nat. Rev. Neurosci. , 13(8), 542-55, 2012 PubMed
2. Dolphin AC, The α2δ subunits of voltage-gated calcium channels., Biochim. Biophys. Acta , 1828(7), 1541-9, 2013 PubMed
3. Wonkam A, Mnika K, Ngo Bitoungui VJ, Chetcha Chemegni B, Chimusa ER, Dandara C, Kengne AP, Clinical and genetic factors are associated with pain and hospitalisation rates in sickle cell anaemia in Cameroon., Br. J. Haematol. , 180(1), 134-146, 2018 PubMed