Disease related genes, FDA approved drug targets, Human disease related genes, Transporters, Voltage-gated ion channels
Membrane
Cell type enhanced (Skeletal myocytes, Cone photoreceptor cells, Late spermatids, Cardiomyocytes)
Not detected in immune cells
Group enriched (BEWO, HSkMC)
Component of a calcium channel complex consisting of a pore-forming alpha subunit (CACNA1S) and the ancillary subunits CACNB1 or CACNB2, CACNG1 and CACNA2D1. The channel complex contains alpha, beta, gamma and delta subunits in a 1:1:1:1 ratio, i.e. it contains either CACNB1 or CACNB2 (By similarity). CACNA1S channel activity is modulated by the auxiliary subunits (CACNB1 or CACNB2, CACNG1 and CACNA2D1). Interacts with DYSF and JSRP1 (By similarity). Interacts with RYR1 (By similarity). Interacts with STAC, STAC2 and STAC3 (via their SH3 domains) (PubMed:29078335). Interacts with CALM (PubMed:19473981).
Calcium channel, Calmodulin-binding, Ion channel, Voltage-gated channel
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For Research Use Only. Not For Clinical Use.