KMT2D Gene Summary [Human]
The protein encoded by this gene is a histone methyltransferase that methylates the Lys-4 position of histone H3. The encoded protein is part of a large protein complex called ASCOM, which has been shown to be a transcriptional regulator of the beta-globin and estrogen receptor genes. Mutations in this gene have been shown to be a cause of Kabuki syndrome. [provided by RefSeq, Oct 2010]
Details
| Type | Protein Coding |
| Official Symbol | KMT2D |
| Official Name | lysine methyltransferase 2D [Source:HGNC Symbol;Acc:HGNC:7133] |
| Ensembl ID | ENSG00000167548 |
| Bio databases IDs | |
| Aliases | lysine methyltransferase 2D, histone-lysine N-methyltransferase 2D, ALL1-related |
| Synonyms | AAD10, ALR, bapa, BC032281, BCAHH, C430014K11Rik, CAGL114, KABUK1, KMS, KMT2B, lysine (K)-specific methyltransferase 2D, lysine methyltransferase 2D, MLL2, MLL4, TNRC21 |
| 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 KMT2D often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional activator activity
- PHD zinc finger
- transcription regulator
- LXXLL motif
- SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
- Cysteine-rich motif following a subset of SET domains
- F/Y rich C-terminus
- nucleic acid binding
- high mobility group (HMG)-box domain superfamily
- Ring finger domain
- protein binding
- sequence-specific DNA binding
- histone lysine N-methyltransferase activity (H3-K4 specific)
- PHD-like zinc-binding domain
- double-stranded DNA binding
- SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain superfamily
- Ring finger
- RING finger (Really Interesting New Gene) domain and U-box domain superfamily
- HMG (high mobility group) box
- SET domain
- high mobility group
- PHD finger superfamily
- F/Y-rich N-terminus
- 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
- schizophrenia
- cancer
- bipolar disorder
- prostate cancer
- benign neoplasia
- metastasis
- Kabuki syndrome type 1
- Kabuki syndrome
- precursor B-cell acute lymphoblastic leukemia
role in cell
- expression in
- number
- phosphorylation in
- migration
- cellular infiltration by
- binding in
- trimethylation in
- activation in
- proliferation
- activation
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
- nucleoplasm
- plasma
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human KMT2D gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- oocyte growth
- response to estrogen stimulus
- oogenesis
- heterochromatin assembly
- positive regulation of cell proliferation
- positive regulation of intracellular estrogen receptor signaling pathway
- regulation of transcription, DNA-dependent
- positive regulation of transcription from RNA polymerase II promoter
- methylation
Cellular Component
Where in the cell the gene product is active
- nucleus
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- histone methyltransferase activity (H3-K4 specific)
- DNA binding
- protein binding
- transcription coactivator activity
- metal ion binding
- transcription regulatory region sequence-specific DNA binding