KMT2E

Overview

KMT2E (Lysine Methyltransferase 2E, also known as MLL5) is a member of the SET/MLL histone H3K4 methyltransferase family involved in transcriptional activation and chromatin organization. KMT2E has been implicated as a recurrently mutated chromatin modifier in bladder transitional cell carcinoma, contributing to the widespread epigenetic dysregulation observed in that tumor type.

Alterations observed in the corpus

  • Somatic mutation as part of the histone lysine methyltransferase KMT2A/KMT2C/KMT2E group, collectively altered in 16% of transitional cell carcinoma (BLCA) bladder tumors in a 99-sample WES cohort PMID:24121792

Cancer types (linked)

  • BLCA: somatic mutation in whole-exome sequencing of 99 Chinese TCC tumors; grouped with KMT2A and KMT2C as a histone lysine methyltransferase alteration cluster.

Co-occurrence and mutual exclusivity

  • Co-occurs with other chromatin-remodeling gene mutations in BLCA; 58% of TCC cases carried at least one chromatin-remodeler alteration PMID:24121792

Therapeutic relevance

  • Not directly targeted in the corpus; chromatin-remodeling gene mutations collectively implicate epigenetic therapeutic approaches in bladder cancer.

Open questions

  • Individual mutation frequencies and functional consequences of KMT2E alterations in TCC have not been separately characterized from the KMT2A/KMT2C/KMT2E grouping PMID:24121792

Sources

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