# MLLT6

Source: https://onco.cc/targets/mllt6/  
OnCo record `mllt6` (Target). Data CC BY-NC 4.0, attribute "Data from OnCo (onco.cc)"; commercial use needs a licence.

## TL;DR

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.

IntOGen calls it a driver in 2 cohorts (1 activating, 1 loss-of-function), covering Paraganglioma, Upper Tract Urothelial Carcinoma.

## Fields

- Kind: Target
- Last checked: 2026-09-23
- Also known as: MLLT6, PHD finger containing; AF17; FLJ23480
- Tags: cancer-genes-wave
- Symbol: MLLT6
- Class: tumor-suppressor
- 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).
- Where found: Pheochromocytoma and paraganglioma: IntOGen driver in 1 cohort (PGNG); Bladder & urothelial cancer: IntOGen driver in 1 cohort (UTUC)

## 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.

## Sources

- HGNC HGNC:7138: https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7138
- UniProt P55198: https://www.uniprot.org/uniprotkb/P55198/entry
- NCBI Gene 4302: https://www.ncbi.nlm.nih.gov/gene/4302
- Ensembl ENSG00000275023: https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000275023

## Connected records

- collections: [IntOGen](https://onco.cc/collections/intogen/)
- cancers: [Bladder & urothelial cancer](https://onco.cc/cancers/urothelial/), [Pheochromocytoma and paraganglioma (PPGL)](https://onco.cc/cancers/pheochromocytoma-paraganglioma/)

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JSON: https://onco.cc/api/v1/entities/mllt6.json