MLLT6
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.
Overview
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.
IntOGen calls it a driver in 2 cohorts (1 activating, 1 loss-of-function), covering Paraganglioma, Upper Tract Urothelial Carcinoma.
- Target · the protein and the cell it sits on
- Drug · antibody, small molecule, cell or radioligand
- Effect · signal, damage or kill
In plain words · 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.
- 1 · What it is
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.
- 2 · What goes wrong in cancer
Involved in the stimulation of renal sodium reabsorption mediated by the epithelial sodium channel (ENaC).
- 3 · How drugs use it
No product in this corpus aims at MLLT6 yet. Because the protein is lost rather than overactive, drugs either restore its function or exploit the weakness its loss leaves (synthetic lethality).
External identifiers
Sources: HGNC HGNC:7138 (approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)); UniProt P55198 (protein name, function text, keywords and locations (REST API)); IntOGen MLLT6 (driver in 2 cohorts (Act 1, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0)
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).
- Pheochromocytoma and paraganglioma: IntOGen driver in 1 cohort (PGNG)
- Bladder & urothelial cancer: IntOGen driver in 1 cohort (UTUC)
Notes
top- 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.
Latest papers
topQuery for this target: (TITLE:"MLLT6" OR ABSTRACT:"MLLT6" OR TITLE:"MLLT6, PHD finger containing" OR ABSTRACT:"MLLT6, PHD finger containing" OR TITLE:"AF17" OR ABSTRACT:"AF17" OR TITLE:"FLJ23480" OR ABSTRACT:"FLJ23480") AND (cancer OR tumor OR tumour OR oncology OR carcinoma OR lymphoma OR leukemia OR leukaemia OR myeloma OR sarcoma OR melanoma OR glioma). Results are unfiltered search hits about MLLT6, not a curated reading list.