{"entity":{"id":"scn7a","kind":"target","name":"SCN7A","aka":["sodium voltage-gated channel alpha subunit 7","Sodium channel protein type 7 subunit alpha","Nav2.1","Nav2.2","NaG","SCN6A"],"tldr":"SCN7A (Sodium channel protein type 7 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":"Sodium leak channel functioning as an osmosensor regulating sodium ion levels in various tissues and organs. While most sodium channels are voltage-gated, SCN7A is not and lets sodium flow through membrane along its concentration gradient. In glial cells of the central nervous system, senses body-fluid sodium levels and controls salt intake behaviour as well as voluntary water intake through activation of nearby neurons to maintain appropriate sodium levels in the body.\n\nOpen Targets scores its association with cancer at 0.54 (direct and indirect evidence; datatypes literature 0.70, genetic association 0.00, clinical 0.86).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:10594","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10594"},{"label":"UniProt Q01118","url":"https://www.uniprot.org/uniprotkb/Q01118/entry"},{"label":"NCBI Gene 6332","url":"https://www.ncbi.nlm.nih.gov/gene/6332"},{"label":"Ensembl ENSG00000136546","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000136546"}],"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":"SCN7A","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:10594","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10594","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q01118","url":"https://www.uniprot.org/uniprotkb/Q01118/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000136546","url":"https://platform.opentargets.org/target/ENSG00000136546/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 SCN7A: RNA tissue enhanced (intestine 33 nTPM, ovary 37 nTPM); no normal tissue stained high; highest cancer staining cervical cancer (1 of 12 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 SCN7A tissue","url":"https://www.proteinatlas.org/ENSG00000136546-SCN7A/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000136546 associations","url":"https://platform.opentargets.org/target/ENSG00000136546/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:10594","ensembl":"ENSG00000136546","uniprot":"Q01118","entrez":"6332","firstDescribed":1992,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: George A.L. Jr. et al, Proc. Natl. Acad. Sci. U.S.A, 1992, \"Molecular cloning of an atypical voltage-gated sodium channel expressed in human heart and uterus: evidence for a distinct gene family\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1317577/","biology":"Sodium leak channel functioning as an osmosensor regulating sodium ion levels in various tissues and organs. While most sodium channels are voltage-gated, SCN7A is not and lets sodium flow through membrane along its concentration gradient. In glial cells of the central nervous system, senses body-fluid sodium levels and controls salt intake behaviour as well as voluntary water intake through activation of nearby neurons to maintain appropriate sodium levels in the body. By mediating sodium influx into keratinocytes, also plays a role in skin barrier homeostasis. Location: Cell membrane (UniProt). Locus 2q24.3 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},"route":"/targets/scn7a/","neighbours":{"collection":[{"id":"open-targets","kind":"collection","name":"Open Targets Platform","route":"/collections/open-targets/"}]}}