{"entity":{"id":"hey1","kind":"target","name":"HEY1","aka":["hes related family bHLH transcription factor with YRPW motif 1","Hairy/enhancer-of-split related with YRPW motif protein 1","HESR-1","CHF2","HESR1","HRT-1","CHF-2","HERP2","bHLHb31"],"tldr":"HEY1 (Hairy/enhancer-of-split related with YRPW motif protein 1) is a protein that switches other genes on and off. In the public catalogues the evidence so far is association rather than a proven role. Tied to Sarcomas and Chondrosarcoma.","summary":"Transcriptional repressor which binds preferentially to the canonical E box sequence 5'-CACGTG-3'. Downstream effector of Notch signalling required for cardiovascular development. Specifically required for the Notch-induced endocardial epithelial to mesenchymal transition, which is itself criticial for cardiac valve and septum development.\n\nOpen Targets scores its association with cancer at 0.60 (direct and indirect evidence; datatypes literature 0.96, genetic association 0.00, somatic mutation 0.95).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:4880","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4880"},{"label":"UniProt Q9Y5J3","url":"https://www.uniprot.org/uniprotkb/Q9Y5J3/entry"},{"label":"NCBI Gene 23462","url":"https://www.ncbi.nlm.nih.gov/gene/23462"},{"label":"Ensembl ENSG00000164683","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000164683"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["sarcoma","chondrosarcoma"],"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: none stated by the sources. Evidence tier \"association-only\" 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":"HEY1","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:4880","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4880","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9Y5J3","url":"https://www.uniprot.org/uniprotkb/Q9Y5J3/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000164683","url":"https://platform.opentargets.org/target/ENSG00000164683/associations","note":"association with cancer (MONDO_0004992) 0.60; per-cancer scores at or above 0.5: sarcoma 0.54, chondrosarcoma 0.52 (GraphQL API, CC0)"}],"hgnc":"HGNC:4880","ensembl":"ENSG00000164683","uniprot":"Q9Y5J3","entrez":"23462","biology":"Transcriptional repressor which binds preferentially to the canonical E box sequence 5'-CACGTG-3'. Downstream effector of Notch signalling required for cardiovascular development. Specifically required for the Notch-induced endocardial epithelial to mesenchymal transition, which is itself criticial for cardiac valve and septum development. May be required in conjunction with HEY2 to specify arterial cell fate or identity. Promotes maintenance of neuronal precursor cells and glial versus neuronal fate specification. Represses transcription by the cardiac transcriptional activators GATA4 and GATA6 and by the neuronal bHLH factors ASCL1/MASH1 and NEUROD4/MATH3. Location: Nucleus (UniProt). Locus 8q21.13 (HGNC).","whereFound":["Sarcomas: Open Targets association 0.54 with sarcoma (MONDO_0005089)","Chondrosarcoma: Open Targets association 0.52 with chondrosarcoma (MONDO_0008977)"],"targetClass":"transcription","prevalence":[]},"route":"/targets/hey1/","neighbours":{"collection":[{"id":"open-targets","kind":"collection","name":"Open Targets Platform","route":"/collections/open-targets/"}],"cancer":[{"id":"chondrosarcoma","kind":"cancer","name":"Chondrosarcoma","route":"/cancers/chondrosarcoma/"},{"id":"sarcoma","kind":"cancer","name":"Sarcomas (soft tissue, bone, GIST)","route":"/cancers/sarcoma/"}]}}