{"entity":{"id":"mllt6","kind":"target","name":"MLLT6","aka":["MLLT6, PHD finger containing","AF17","FLJ23480"],"tldr":"MLLT6 (MLLT6, PHD finger containing) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as an oncogene driver, a tumour suppressor and a fusion partner, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Pheochromocytoma and paraganglioma and Bladder & urothelial cancer.","summary":"Involved in the stimulation of renal sodium reabsorption mediated by the epithelial sodium channel (ENaC). Up-regulates ENaC expression in renal collecting duct cells by promoting DOT1L export from the nucleus to the cytoplasm, thus limiting DOT1L-mediated H3K79 methylation and transcriptional repression at the SCNN1A promoter.\n\nIntOGen calls it a driver in 2 cohorts (1 activating, 1 loss-of-function), covering Paraganglioma, Upper Tract Urothelial Carcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:7138","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7138"},{"label":"UniProt P55198","url":"https://www.uniprot.org/uniprotkb/P55198/entry"},{"label":"NCBI Gene 4302","url":"https://www.ncbi.nlm.nih.gov/gene/4302"},{"label":"Ensembl ENSG00000275023","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000275023"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["pheochromocytoma-paraganglioma","urothelial"],"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: IntOGen calls it an activating (Act) driver in 1 cohort; IntOGen calls it a loss-of-function (LoF) driver in 1 cohort; UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"cohort-driver\" 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":"MLLT6","role":["oncogene-driver","tumour-suppressor","fusion-partner"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:7138","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7138","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P55198","url":"https://www.uniprot.org/uniprotkb/P55198/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen MLLT6","url":"https://www.intogen.org/search?gene=MLLT6","note":"driver in 2 cohorts (Act 1, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"hgnc":"HGNC:7138","ensembl":"ENSG00000275023","uniprot":"P55198","entrez":"4302","biology":"Involved in the stimulation of renal sodium reabsorption mediated by the epithelial sodium channel (ENaC). Up-regulates ENaC expression in renal collecting duct cells by promoting DOT1L export from the nucleus to the cytoplasm, thus limiting DOT1L-mediated H3K79 methylation and transcriptional repression at the SCNN1A promoter. Location: Nucleus; Cytoplasm (UniProt). Locus 17q12 (HGNC).","whereFound":["Pheochromocytoma and paraganglioma: IntOGen driver in 1 cohort (PGNG)","Bladder & urothelial cancer: IntOGen driver in 1 cohort (UTUC)"],"targetClass":"tumor-suppressor","prevalence":[]},"route":"/targets/mllt6/","neighbours":{"collection":[{"id":"intogen","kind":"collection","name":"IntOGen","route":"/collections/intogen/"}],"cancer":[{"id":"urothelial","kind":"cancer","name":"Bladder & urothelial cancer","route":"/cancers/urothelial/"},{"id":"pheochromocytoma-paraganglioma","kind":"cancer","name":"Pheochromocytoma and paraganglioma (PPGL)","route":"/cancers/pheochromocytoma-paraganglioma/"}]}}