| GENE NAME | SCN5A |
| CHROMOSOME | 3 |
| ENSEMBL ID | ENSG00000183873 |
| ENTREZ ID | 6331 |
| UNIPROT ACCESSION NUMBER | H9KVD2 |
| GO MOLECULAR FUNCTION | protein kinase binding; protein domain specific binding; protein binding; enzyme binding; nitric-oxide synthase binding; voltage-gated sodium channel activity involved in bundle of His cell action potential; voltage-gated ion channel activity; voltage-gated sodium channel activity involved in cardiac muscle cell action potential; transmembrane transporter binding; voltage-gated sodium channel activity; ubiquitin protein ligase binding; scaffold protein binding; ankyrin binding; voltage-gated sodium channel activity involved in AV node cell action potential; fibroblast growth factor binding; voltage-gated sodium channel activity involved in SA node cell action potential; calmodulin binding; voltage-gated sodium channel activity involved in Purkinje myocyte action potential |
| ESSENTIAL IN MOUSE | Essential |
| PATHWAYS | R-HSA-1266738; R-HSA-5576891; R-HSA-397014; R-HSA-445095; R-HSA-373760; R-HSA-9675108; R-HSA-422475; R-HSA-5576892; hsa04261; hsa04261 |
| 9 combinations linked to SCN5A | OLI183; OLI364; OLI645; OLI445; OLI1227; OLI985; OLI1228; OLI363; OLI202 |
| 9 variants linked to SCN5A | SCN5A:c.4844TCTT>T, p.Phe1617del; SCN5A:c.4501C>G, p.Leu1501Val; SCN5A:c.1715C>A, p.Ala572Asp; SCN5A:c.5455G>A, p.Asp1819Asn; SCN5A:c.4868G>A, p.Arg1623Gln; SCN5A:c.3578G>A, p.Arg1193Gln; SCN5A:c.5594G>A, p.Arg1865His; SCN5A:c.4769G>A, p.Arg1590His; SCN5A:c.4868G>A, p.Arg1623Gln |
| 4 diseases linked to SCN5A | Familial long QT syndrome; Early repolarization syndrome; Brugada syndrome; Romano-Ward syndrome |