{"entity":{"id":"mef2d","kind":"target","name":"MEF2D","aka":["myocyte enhancer factor 2D","Myocyte-specific enhancer factor 2D"],"tldr":"MEF2D (Myocyte-specific enhancer factor 2D) is a protein that switches other genes on and off. The public catalogues list it as a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response.","summary":"Transcriptional activator which binds specifically to the MEF2 element, 5'-YTA[AT](4)TAR-3', found in numerous muscle-specific, growth factor- and stress-induced genes. Mediates cellular functions not only in skeletal and cardiac muscle development, but also in neuronal differentiation and survival. Plays diverse roles in the control of cell growth, survival and apoptosis via p38 MAPK signalling in muscle-specific and/or growth factor-related transcription.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:6997","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6997"},{"label":"UniProt Q14814","url":"https://www.uniprot.org/uniprotkb/Q14814/entry"},{"label":"NCBI Gene 4209","url":"https://www.ncbi.nlm.nih.gov/gene/4209"},{"label":"Ensembl ENSG00000116604","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000116604"}],"tags":["cancer-genes-wave"],"related":["civic"],"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: CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: B-cell Acute Lymphoblastic Leukaemia."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"MEF2D","role":["biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:6997","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6997","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q14814","url":"https://www.uniprot.org/uniprotkb/Q14814/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene MEF2D","url":"https://civicdb.org/features/32","note":"1 evidence items, 0 assertions, 1 variants; diseases: B-cell Acute Lymphoblastic Leukaemia (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 biomarker; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA MEF2D: RNA tissue enhanced (skeletal muscle 158 nTPM); high antibody staining in 34 normal tissues; highest cancer staining breast cancer (11 of 11 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 MEF2D tissue","url":"https://www.proteinatlas.org/ENSG00000116604-MEF2D/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000116604 associations","url":"https://platform.opentargets.org/target/ENSG00000116604/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:6997","ensembl":"ENSG00000116604","uniprot":"Q14814","entrez":"4209","firstDescribed":1993,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Breitbart R.E. et al, Development, 1993, \"A fourth human MEF2 transcription factor, hMEF2D, is an early marker of the myogenic lineage\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8269842/","biology":"Transcriptional activator which binds specifically to the MEF2 element, 5'-YTA[AT](4)TAR-3', found in numerous muscle-specific, growth factor- and stress-induced genes. Mediates cellular functions not only in skeletal and cardiac muscle development, but also in neuronal differentiation and survival. Plays diverse roles in the control of cell growth, survival and apoptosis via p38 MAPK signalling in muscle-specific and/or growth factor-related transcription. Plays a critical role in the regulation of neuronal apoptosis. Location: Nucleus (UniProt). Locus 1q22 (HGNC).","whereFound":[],"targetClass":"transcription","prevalence":[]},"route":"/targets/mef2d/","neighbours":{"collection":[{"id":"civic","kind":"collection","name":"CIViC","route":"/collections/civic/"}]}}