DISEASES

Disease-gene associations mined from literature

Literature associating KMT2E and Kabuki syndrome

KMT2E [ENSP00000312379]

Inactive histone-lysine N-methyltransferase 2E; Associates with chromatin regions downstream of transcriptional start sites of active genes and thus regulates gene transcription . Chromatin interaction is mediated via the binding to tri-methylated histone H3 at 'Lys-4' (H3K4me3) . Key regulator of hematopoiesis involved in terminal myeloid differentiation and in the regulation of hematopoietic stem cell (HSCs) self-renewal by a mechanism that involves DNA methylation (By similarity). Also acts as an important cell cycle regulator, participating in cell cycle regulatory network machinery at multiple cell cycle stages including G1/S transition, S phase progression and mitotic entry . Recruited to E2F1 responsive promoters by HCFC1 where it stimulates tri-methylation of histone H3 at 'Lys-4' and transcriptional activation and thereby facilitates G1 to S phase transition . During myoblast differentiation, required to suppress inappropriate expression of S-phase-promoting genes and maintain expression of determination genes in quiescent cells (By similarity). ECO:0000269|PubMed:18573682, ECO:0000269|PubMed:23629655,; Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family. TRX/MLL subfamily.

Synonyms:  KMT2E,  KMT2Ep,  hKMT2E,  A0A087WYW5,  C9JNE1 ...

Linkouts:  STRING  Pharos  UniProt