KMT2E Gene Summary [Human]
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]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | KMT2E |
| Official Name | lysine methyltransferase 2E (inactive) [Source:HGNC Symbol;Acc:HGNC:18541] |
| Ensembl ID | ENSG00000005483 |
| Bio databases IDs | |
| Aliases | lysine methyltransferase 2E (inactive) |
| Synonyms | 1810033J14Rik, 9530077A04Rik, D230038D11Rik, HDCMC04P, lysine (K)-specific methyltransferase 2E, lysine methyltransferase 2E, lysine methyltransferase 2E (inactive), MLL5, NKp44L, ODLURO, SETD5B |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human KMT2E often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- histone binding
- PHD zinc finger
- HCF-1 binding motif
- SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
- transcription co-activator
- Ezrin/radixin/moesin, alpha-helical domain
- protein binding activity, bridging
- enzyme binding
- enzyme
- protein binding
- PHD-finger
- histone lysine N-methyltransferase activity (H3-K4 specific)
- CD-4 domain
- SET domain
- SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain superfamily
- PHD finger superfamily
- PLK1 binding motif
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- schizophrenia
- epithelial cancer
- hypoplasia
- O'Donnell-Luria-Rodan syndrome
- hereditary disorder
- bladder carcinoma
- blepharitis
- global developmental delay
- primary myelofibrosis
- thrombocytopenia
role in cell
- proliferation
- expression in
- G1 phase
- phosphorylation in
- G2 phase
- activation
- number
- formation
- lysis
- differentiation
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- Cytoplasm
- cell surface
- Endoplasmic Reticulum
- nuclear foci
- nucleoplasm
- nuclear bodies
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human KMT2E gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- neutrophil activation
- neutrophil mediated immunity
- erythrocyte differentiation
- positive regulation of G1/S transition of mitotic cell cycle
- positive regulation of transcription, DNA-dependent
- regulation of transcription, DNA-dependent
- regulation of gene expression, epigenetic
Cellular Component
Where in the cell the gene product is active
- nuclear body
- nuclear speck
- chromatin
- plasma membrane
- nucleoplasm
- nucleus
- euchromatin
- centrosome
- Rpd3L-Expanded complex
- cytoplasm
- macromolecular complex
- Set3 complex
Molecular Function
What the gene product does at the molecular level
- protein binding
- transcription coactivator activity
- metal ion binding
- methylated histone residue binding
- enzyme binding