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KMT2D - Gene Detail

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Gene Symbol KMT2D
Synonyms AAD10 | ALR | BCAHH | CAGL114 | KABUK1 | KMS | MLL2 | MLL4 | TNRC21
Gene Description KMT2D, lysine methyltransferase 2D, is an epigenetic modifier and histone methyltransferase, which methylates H3K4me and is involved in transcriptional activation, mostly during development and cell differentiation (PMID: 28669924, PMID: 24240169). KMT2D mutations are associated with various tumor types, including esophageal squamous cell carcinoma (PMID: 25151357), follicular lymphoma (PMID: 24362818), lung cancer (PMID: 28007623, PMID: 27873319, PMID: 32243837), and bladder cancer (PMID: 30984543).
NCBI Gene ID Chromosome Map Location Canonical Transcript Gene Role
8085 12 12q13.12 NM_003482 Both: Oncogene and Tumor suppressor (PMID: 30606230)
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