KMT2C Gene Summary [Human]
This gene is a member of the myeloid/lymphoid or mixed-lineage leukemia (MLL) family and encodes a nuclear protein with an AT hook DNA-binding domain, a DHHC-type zinc finger, six PHD-type zinc fingers, a SET domain, a post-SET domain and a RING-type zinc finger. This protein is a member of the ASC-2/NCOA6 complex (ASCOM), which possesses histone methylation activity and is involved in transcriptional coactivation. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | KMT2C |
| Official Name | lysine methyltransferase 2C [Source:HGNC Symbol;Acc:HGNC:13726] |
| Ensembl ID | ENSG00000055609 |
| Bio databases IDs | |
| Aliases | lysine methyltransferase 2C, Histone-lysine N-methyltransferase 2C |
| Synonyms | E330008K23Rik, HALR, KLEFS2, LOC100364718, lysine (K)-specific methyltransferase 2C, lysine methyltransferase 2C, MLL3 |
| 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 KMT2C 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
- transcription regulator
- SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
- FYRC domain
- Cysteine-rich motif following a subset of SET domains
- F/Y rich C-terminus
- high mobility group (HMG)-box domain superfamily
- SET binding domain
- Win motif
- protein binding
- FYRN domain
- histone lysine N-methyltransferase activity (H3-K4 specific)
- histone methyltransferase
- PHD-like zinc-binding domain
- HMG (high mobility group) box
- SET domain
- SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain superfamily
- high mobility group
- PHD finger superfamily
- F/Y-rich N-terminus
- Domain of unknown function (DUF4200)
- PHD-zinc-finger like domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- mental retardation
- hereditary disorder
- neurodevelopmental disorder
- poor social function
- acute myeloid leukemia
- Kleefstra syndrome type 2
- bipolar disorder
- sarcomatoid nasopharyngeal carcinoma
- sarcomatoid cancer
role in cell
- expression in
- proliferation
- formation in
- formation
- colony formation by
- cellular infiltration by
- trimethylation in
- methylation in
- acetylation in
- recruitment in
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
- pH resistant lipid raft fraction
- cytosol
- nucleoplasm
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human KMT2C gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- chromatin remodeling
- positive regulation of transcription from RNA polymerase II promoter
- response to electrical stimulus
- methylation
Cellular Component
Where in the cell the gene product is active
- nucleus
- histone methyltransferase complex
- cytosol
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- histone methyltransferase activity (H3-K4 specific)
- DNA binding
- transferase activity, transferring acyl groups
- protein binding
- RNA binding
- transcription coactivator activity
- metal ion binding
- histone methyltransferase activity