{"entity":{"id":"scn4a","kind":"target","name":"SCN4A","aka":["sodium voltage-gated channel alpha subunit 4","Sodium channel protein type 4 subunit alpha","Nav1.4","SkM1","HYKPP"],"tldr":"SCN4A (Sodium channel protein type 4 subunit alpha) is a gene. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it.","summary":"Pore-forming subunit of Nav1.4, a voltage-gated sodium (Nav) channel that directly mediates the depolarising phase of action potentials in excitable membranes. Navs, also called VGSCs (voltage-gated sodium channels) or VDSCs (voltage-dependent sodium channels), operate by switching between closed and open conformations depending on the voltage difference across the membrane. In the open conformation they allow Na(+) ions to selectively pass through the pore, along their electrochemical gradient.\n\nOpen Targets scores its association with cancer at 0.56 (direct and indirect evidence; datatypes literature 0.74, animal model 0.68, genetic association 0.09, clinical 0.86).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:10591","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10591"},{"label":"UniProt P35499","url":"https://www.uniprot.org/uniprotkb/P35499/entry"},{"label":"NCBI Gene 6329","url":"https://www.ncbi.nlm.nih.gov/gene/6329"},{"label":"Ensembl ENSG00000007314","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000007314"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.86. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"SCN4A","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:10591","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10591","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P35499","url":"https://www.uniprot.org/uniprotkb/P35499/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000007314","url":"https://platform.opentargets.org/target/ENSG00000007314/associations","note":"association with cancer (MONDO_0004992) 0.56;  (GraphQL API, CC0)"}],"distribution":"not-established","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role drug-target; HPA finds the RNA group enriched, which says where the protein sits but not whether the tumour differs from normal tissue. HPA SCN4A: RNA group enriched (skeletal muscle 129 nTPM, tongue 50 nTPM); no normal tissue stained high. Distribution: no corpus cancer carries a prevalence row, threshold or catalogue link for it; Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas SCN4A tissue","url":"https://www.proteinatlas.org/ENSG00000007314-SCN4A/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000007314 associations","url":"https://platform.opentargets.org/target/ENSG00000007314/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:10591","ensembl":"ENSG00000007314","uniprot":"P35499","entrez":"6329","firstDescribed":1992,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: George A.L. Jr. et al, Ann. Neurol, 1992, \"Primary structure of the adult human skeletal muscle voltage-dependent sodium channel\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1315496/","biology":"Pore-forming subunit of Nav1.4, a voltage-gated sodium (Nav) channel that directly mediates the depolarising phase of action potentials in excitable membranes. Navs, also called VGSCs (voltage-gated sodium channels) or VDSCs (voltage-dependent sodium channels), operate by switching between closed and open conformations depending on the voltage difference across the membrane. In the open conformation they allow Na(+) ions to selectively pass through the pore, along their electrochemical gradient. The influx of Na+ ions provokes membrane depolarisation, initiating the propagation of electrical signals throughout cells and tissues. Highly expressed in skeletal muscles, Nav1.4 generates the action potential crucial for muscle contraction. Location: Cell membrane (UniProt). Locus 17q23.3 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},"route":"/targets/scn4a/","neighbours":{"collection":[{"id":"open-targets","kind":"collection","name":"Open Targets Platform","route":"/collections/open-targets/"}]}}