{"entity":{"id":"scn1a","kind":"target","name":"SCN1A","aka":["sodium voltage-gated channel alpha subunit 1","Sodium channel protein type 1 subunit alpha","Nav1.1","GEFSP2","HBSCI","NAC1","SCN1","FEB3"],"tldr":"SCN1A (Sodium channel protein type 1 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 Nav1.1, 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 0.54 (direct and indirect evidence; datatypes literature 0.39, animal model 0.37, genetic association 0.00, clinical 0.86).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:10585","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10585"},{"label":"UniProt P35498","url":"https://www.uniprot.org/uniprotkb/P35498/entry"},{"label":"NCBI Gene 6323","url":"https://www.ncbi.nlm.nih.gov/gene/6323"},{"label":"Ensembl ENSG00000144285","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000144285"}],"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":"SCN1A","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:10585","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10585","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P35498","url":"https://www.uniprot.org/uniprotkb/P35498/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000144285","url":"https://platform.opentargets.org/target/ENSG00000144285/associations","note":"association with cancer (MONDO_0004992) 0.54;  (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 tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA SCN1A: RNA tissue enhanced (brain 8 nTPM, retina 3 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 SCN1A tissue","url":"https://www.proteinatlas.org/ENSG00000144285-SCN1A/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000144285 associations","url":"https://platform.opentargets.org/target/ENSG00000144285/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:10585","ensembl":"ENSG00000144285","uniprot":"P35498","entrez":"6323","firstDescribed":1992,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Lu C.-M. et al, FEBS Lett, 1992, \"Differential expression of two sodium channel subtypes in human brain\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1317301/","biology":"Pore-forming subunit of Nav1.1, 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. By regulating the excitability of neurons, ensures that they respond appropriately to synaptic inputs, maintaining the balance between excitation and inhibition in brain neural circuits. Nav1.1 plays a role in controlling the excitability and action potential propagation from somatosensory neurons, thereby contributing to the sensory perception of mechanically-induced pain. Location: Cell membrane (UniProt). Locus 2q24.3 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},"route":"/targets/scn1a/","neighbours":{"collection":[{"id":"open-targets","kind":"collection","name":"Open Targets Platform","route":"/collections/open-targets/"}]}}