{"entity":{"id":"mef2c","kind":"target","name":"MEF2C","aka":["myocyte enhancer factor 2C","Myocyte-specific enhancer factor 2C"],"tldr":"MEF2C (Myocyte-specific enhancer factor 2C) 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. Tied to Diffuse large B-cell lymphoma.","summary":"Transcription activator which binds specifically to the MEF2 element present in the regulatory regions of many muscle-specific genes. Controls cardiac morphogenesis and myogenesis, and is also involved in vascular development. Enhances transcriptional activation mediated by SOX18.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:6996","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6996"},{"label":"UniProt Q06413","url":"https://www.uniprot.org/uniprotkb/Q06413/entry"},{"label":"NCBI Gene 4208","url":"https://www.ncbi.nlm.nih.gov/gene/4208"},{"label":"Ensembl ENSG00000081189","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000081189"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["dlbcl"],"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."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"MEF2C","role":["biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:6996","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6996","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q06413","url":"https://www.uniprot.org/uniprotkb/Q06413/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene MEF2C","url":"https://civicdb.org/features/3475","note":"1 evidence items, 0 assertions, 1 variants; diseases: Diffuse Large B-cell Lymphoma (GraphQL API, CC0)"}],"distribution":"one-type","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 MEF2C: RNA tissue enhanced (skeletal muscle 522 nTPM, tongue 231 nTPM); blood lineage group enriched (B-cells 189 nTPM, dendritic cells 100 nTPM, monocytes 83 nTPM); high antibody staining in 11 normal tissues; highest cancer staining melanoma (7 of 12 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Lymphoma); 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 MEF2C tissue","url":"https://www.proteinatlas.org/ENSG00000081189-MEF2C/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000081189 associations","url":"https://platform.opentargets.org/target/ENSG00000081189/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:6996","ensembl":"ENSG00000081189","uniprot":"Q06413","entrez":"4208","firstDescribed":1993,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Leifer et al, Proc. Natl. Acad. Sci. U.S.A, 1993, \"MEF2C, a MADS/MEF2-family transcription factor expressed in a laminar distribution in cerebral cortex\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7679508/","biology":"Transcription activator which binds specifically to the MEF2 element present in the regulatory regions of many muscle-specific genes. Controls cardiac morphogenesis and myogenesis, and is also involved in vascular development. Enhances transcriptional activation mediated by SOX18. Plays an essential role in hippocampal-dependent learning and memory by suppressing the number of excitatory synapses and thus regulating basal and evoked synaptic transmission. Crucial for normal neuronal development, distribution, and electrical activity in the neocortex. Necessary for proper development of megakaryocytes and platelets and for bone marrow B-lymphopoiesis. Location: Nucleus; Cytoplasm, sarcoplasm (UniProt). Locus 5q14.3 (HGNC).","whereFound":["Diffuse large B-cell lymphoma: CIViC evidence names this disease"],"targetClass":"transcription","prevalence":[]},"route":"/targets/mef2c/","neighbours":{"collection":[{"id":"civic","kind":"collection","name":"CIViC","route":"/collections/civic/"}],"cancer":[{"id":"dlbcl","kind":"cancer","name":"Diffuse large B-cell lymphoma","route":"/cancers/dlbcl/"}]}}