KMT2A Gene Summary [Human]
This gene encodes a transcriptional coactivator that plays an essential role in regulating gene expression during early development and hematopoiesis. The encoded protein contains multiple conserved functional domains. One of these domains, the SET domain, is responsible for its histone H3 lysine 4 (H3K4) methyltransferase activity which mediates chromatin modifications associated with epigenetic transcriptional activation. This protein is processed by the enzyme Taspase 1 into two fragments, MLL-C and MLL-N. These fragments reassociate and further assemble into different multiprotein complexes that regulate the transcription of specific target genes, including many of the HOX genes. Multiple chromosomal translocations involving this gene are the cause of certain acute lymphoid leukemias and acute myeloid leukemias. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Oct 2010]
Details
| Type | Protein Coding |
| Official Symbol | KMT2A |
| Official Name | lysine methyltransferase 2A [Source:HGNC Symbol;Acc:HGNC:7132] |
| Ensembl ID | ENSG00000118058 |
| Bio databases IDs | |
| Aliases | lysine methyltransferase 2A, Histone-lysine N-methyltransferase 2A |
| Synonyms | 6430520K01, ALL-1, CXXC7, FLJ11783, GAS7, HRX, HTRX, HTRX1, lysine (K)-specific methyltransferase 2A, lysine methyltransferase 2A, mKIAA4050, MLL, MLL1, MLL1A, TRX1, WDSTS |
| 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 KMT2A often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- PHD zinc finger
- F/Y rich C-terminus
- SET binding domain
- transcription activation domain
- transcription factor binding
- chromatin binding
- enzyme
- Win motif
- Bromodomain
- S-adenosylmethionine-dependent methyltransferase
- identical protein binding
- N2 domain
- protein methyltransferase
- FYRN domain
- histone lysine N-methyltransferase activity (H3-K4 specific)
- zinc ion binding
- SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain superfamily
- SET domain
- DNA methyltransferase domain
- PHD-zinc-finger like domain
- histone binding
- activation domain
- SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
- FYRC domain
- Cysteine-rich motif following a subset of SET domains
- Cbf1/rbp-jk interaction domain
- protein binding
- DNA binding
- n-terminal subdomain
- unmethylated CpG binding
- R2 domain
- transcription repression domain
- PHD-like zinc-binding domain
- S-methyltransferase
- CXXC motif
- basic cysteine basic domain
- AT hook domain
- subnuclear localization domain
- protein homodimerization
- PHD finger superfamily
- zinc finger domain
- CXXC zinc finger domain
- CBP binding domain
- F/Y-rich N-terminus
- DNA methyltransferase homology domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- depressive disorder
- neoplasia
- schizophrenia
- neuroticism
- Wiedemann-Steiner syndrome
- urothelial bladder carcinoma
- transitional cell bladder cancer
- bipolar disorder
- hereditary disorder
- acute lymphoblastic leukemia
role in cell
- phosphorylation in
- apoptosis
- expression in
- proliferation
- self-renewal
- differentiation
- cell death
- neurogenesis
- G1/S phase transition
- colony formation
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
- nuclear fraction
- Cytoplasm
- cytosol
- nucleoplasm
- nuclear scaffolds
- chromatin
- plasma
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human KMT2A gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- protein modification process
- exploration behavior
- embryonic hemopoiesis
- post-embryonic development
- negative regulation of methylation-dependent chromatin silencing
- anterior/posterior pattern specification
- spleen development
- visual learning
- positive regulation of transcription from RNA polymerase II promoter
- fibroblast proliferation
- circadian regulation of gene expression
- positive regulation of transcription, DNA-dependent
- negative regulation of fibroblast proliferation
- apoptotic process
- positive regulation of gene expression, epigenetic
- macromolecular complex assembly
- definitive hemopoiesis
- cellular response to transforming growth factor beta stimulus
- T-helper 2 cell differentiation
- homeostasis of number of cells within a tissue
- membrane depolarization
- regulation of short-term neuronal synaptic plasticity
- response to potassium ion
- methylation
Cellular Component
Where in the cell the gene product is active
- nucleus
- histone methyltransferase complex
- cytosol
- nucleoplasm
- MLL1 complex
Molecular Function
What the gene product does at the molecular level
- histone methyltransferase activity (H3-K4 specific)
- identical protein binding
- zinc ion binding
- protein binding
- protein homodimerization activity
- histone acetyl-lysine binding
- AT DNA binding
- unmethylated CpG binding
- chromatin binding