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SCN5A
Anti-SCN5A Recombinant Antibody Products
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For Research Use Only. Not For Clinical Use.
The protein encoded by this gene is an integral membrane protein and tetrodotoxin-resistant voltage-gated sodium channel subunit. This protein is found primarily in cardiac muscle and is responsible for the initial upstroke of the action potential in an electrocardiogram. Defects in this gene are a cause of long QT syndrome type 3 (LQT3), an autosomal dominant cardiac disease. Alternative splicing results in several transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
Protein class
Disease related genes, FDA approved drug targets, Human disease related genes, Plasma proteins, Transporters, Voltage-gated ion channels
Predicted location
Intracellular, Membrane (different isoforms)
Single cell type specificity
Cell type enriched (Cardiomyocytes)
Immune cell specificity
Not detected in immune cells
Cell line specificity
Group enriched (LHCN-M2, RH-30)
Interaction
Interacts with the PDZ domain of the syntrophin SNTA1, SNTB1 and SNTB2 (By similarity). Interacts with NEDD4, NEDD4L, WWP2 and GPD1L (PubMed:15217910, PubMed:15548568, PubMed:19666841). Interacts with CALM (PubMed:21167176, PubMed:22705208, PubMed:25370050). Interacts with FGF13; the interaction is direct and FGF13 may regulate SNC5A density at membranes and function (PubMed:21817159, PubMed:22705208, PubMed:26392562). May also interact with FGF12 and FGF14 (PubMed:26392562). Interacts with the spider Jingzhaotoxin-I (AC P83974, AC B1P1B7, AC B1P1B8) (PubMed:26721415). Interacts with ANK3 (PubMed:15579534).
Molecular function
Calmodulin-binding, Ion channel, Sodium channel, Voltage-gated channel
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