Aliases for KMT2E Gene
External Ids for KMT2E Gene
Previous HGNC Symbols for KMT2E Gene
Previous GeneCards Identifiers for KMT2E Gene
This gene is a member of the myeloid/lymphoid or mixed-lineage leukemia (MLL) family and encodes a protein with an N-terminal PHD zinc finger and a central SET domain. Overexpression of the protein inhibits cell cycle progression. Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008]
GeneCards Summary for KMT2E Gene
KMT2E (Lysine Methyltransferase 2E) is a Protein Coding gene. Diseases associated with KMT2E include Myeloid/Lymphoid Or Mixed Lineage Leukemia. Among its related pathways are Chromatin organization and Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3. GO annotations related to this gene include enzyme binding and histone methyltransferase activity (H3-K4 specific). An important paralog of this gene is SETD5.
UniProtKB/Swiss-Prot for KMT2E Gene
Histone methyltransferase that specifically mono- and dimethylates Lys-4 of histone H3 (H3K4me1 and H3K4me2). H3 Lys-4 methylation represents a specific tag for epigenetic transcriptional activation. 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. Plays an essential role in retinoic-acid-induced granulopoiesis by acting as a coactivator of RAR-alpha (RARA) in target gene promoters. Also acts as an important cell cycle regulator, participating in cell cycle regulatory network machinery at multiple cell cycle stages. Required to suppress inappropriate expression of S-phase-promoting genes and maintain expression of determination genes in quiescent cells. Overexpression inhibits cell cycle progression, while knockdown induces cell cycle arrest at both the G1 and G2/M phases.
Isoform NKp44L: Cellular ligand for NCR2/NKp44, may play a role as a danger signal in cytotoxicity and NK-cell-mediated innate immunity.