Aliases for KMT2E Gene
- Lysine Methyltransferase 2E (Inactive) 2 3 5
- Myeloid/Lymphoid Or Mixed-Lineage Leukemia 5 (Trithorax Homolog, Drosophila) 2 3
- Myeloid/Lymphoid Or Mixed-Lineage Leukemia Protein 5 3 4
- Inactive Histone-Lysine N-Methyltransferase 2E 3 4
- Lysine (K)-Specific Methyltransferase 2E 2 3
- Inactive Lysine N-Methyltransferase 2E 3 4
- HDCMC04P 2 3
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 (Inactive)) is a Protein Coding gene. Diseases associated with KMT2E include O'donnell-Luria-Rodan Syndrome and Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome. Among its related pathways are Chromatin organization and Lysine degradation. Gene Ontology (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 Summary for KMT2E Gene
Associates with chromatin regions downstream of transcriptional start sites of active genes and thus regulates gene transcription (PubMed:23629655, PubMed:24130829, PubMed:23798402). Chromatin interaction is mediated via the binding to tri-methylated histone H3 at 'Lys-4' (H3K4me3) (PubMed:24130829, PubMed:23798402). 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 (PubMed:14718661, PubMed:18573682, PubMed:19264965, PubMed:23629655). 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 (PubMed:23629655). During myoblast differentiation, required to suppress inappropriate expression of S-phase-promoting genes and maintain expression of determination genes in quiescent cells (By similarity).
[Isoform NKp44L]: Cellular ligand for NCR2/NKp44, may play a role as a danger signal in cytotoxicity and NK-cell-mediated innate immunity.