KMT2A 11:118307205-118397539

Forward strand gene: lysine methyltransferase 2A

Formerly known as: MLL

Also known as: ENSG00000118058, TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A

Function: Histone methyltransferase that plays an essential role in early development and hematopoiesis. Catalytic subunit of the MLL1/MLL complex, a multiprotein complex that mediates both methylation of 'Lys-4' of histone H3 (H3K4me) complex and acetylation of 'Lys-16' of histone H4 (H4K16ac). In the MLL1/MLL complex, it specifically mediates H3K4me, a specific tag for epigenetic transcriptional activation (PubMed:12453419, PubMed:20677832, PubMed:26886794). Has weak methyltransferase activity by itself, and requires other component of the MLL1/MLL complex to obtain full methyltransferase activity (PubMed:19187761, PubMed:26886794). Has no activity toward histone H3 phosphorylated on 'Thr-3', less activity toward H3 dimethylated on 'Arg-8' or 'Lys-9', while it has higher activity toward H3 acetylated on 'Lys-9'. Binds to unmethylated CpG elements in the promoter of target genes and helps maintain them in the nonmethylated state (PubMed:20010842). Required for transcriptional activation of HOXA9 (PubMed:12453419, PubMed:20677832, PubMed:20010842). Promotes PPP1R15A-induced apoptosis. Plays a critical role in the control of circadian gene expression and is essential for the transcriptional activation mediated by the CLOCK-ARNTL/BMAL1 heterodimer. Establishes a permissive chromatin state for circadian transcription by mediating a rhythmic methylation of 'Lys-4' of histone H3 (H3K4me) and this histone modification directs the circadian acetylation at H3K9 and H3K14 allowing the recruitment of CLOCK-ARNTL/BMAL1 to chromatin (By similarity). Source: UniProt

DECIPHER holds 55 sequence variants in this gene, in 54 open-access patients

Name RefSeq Location Size Type Protein Exons
KMT2A-014 (ENST00000525408)
2.63 kb retained_intron 5
KMT2A-013 (ENST00000527839)
2.58 kb retained_intron 2
KMT2A-001 (ENST00000534358) NM_001197104
90.33 kb canonical protein_coding 3972aa 36
KMT2A-002 (ENST00000531904)
47.80 kb protein_coding 1439aa 10
KMT2A-015 (ENST00000389506)
87.41 kb protein_coding 3969aa 36
KMT2A-201 (ENST00000354520)
88.18 kb protein_coding 3931aa 35
KMT2A-010 (ENST00000532204)
13.24 kb protein_coding 87aa 3
KMT2A-006 (ENST00000529852)
14.00 kb protein_coding 87aa 2
KMT2A-016 (ENST00000527869)
37.55 kb protein_coding 160aa 4
KMT2A-007 (ENST00000533790)
41.44 kb protein_coding 268aa 5
KMT2A-017 (ENST00000392873)
10.06 kb protein_coding 366aa 8
KMT2A-004 (ENST00000420751)
2.34 kb processed_transcript 2
KMT2A-005 (ENST00000528278)
2.86 kb retained_intron 3
KMT2A-009 (ENST00000534085)
1.21 kb retained_intron 2
KMT2A-008 (ENST00000534678)
2.44 kb retained_intron 2