EHMT2 Gene Summary [Human]
This gene encodes a methyltransferase that methylates lysine residues of histone H3. Methylation of H3 at lysine 9 by this protein results in recruitment of additional epigenetic regulators and repression of transcription. This gene was initially thought to be two different genes, NG36 and G9a, adjacent to each other in the HLA locus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
Details
| Type | Processed Transcript |
| Official Symbol | EHMT2 |
| Official Name | euchromatic histone lysine methyltransferase 2 [Source:HGNC Symbol;Acc:HGNC:14129] |
| Ensembl ID | ENSG00000204371 |
| Bio databases IDs | |
| Aliases | euchromatic histone lysine methyltransferase 2 |
| Synonyms | BAT8, C6orf30, D17Ertd710e, euchromatic histone lysine methyltransferase 2, euchromatic histone lysine N-methyltransferase 2, G9A, GAT8, KMT1C, NG36 |
| 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 EHMT2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Ankyrin repeats (many copies)
- SET binding domain
- transcription factor binding
- chromatin binding
- enzyme
- Ankyrin repeat
- histone lysine N-methyltransferase activity (H3-K9 specific)
- histone lysine N-methyltransferase activity (H3-K27 specific)
- SET domain
- SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain superfamily
- cysteine rich domain
- ankyrin repeats
- SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
- nucleic acid binding
- Ankyrin repeats (3 copies)
- protein domain specific binding
- protein binding
- p53 binding
- sequence-specific DNA binding
- protein-lysine N-methyltransferase
- Pre-SET motif
- histone methyltransferase
- double-stranded DNA binding
- polyglutamine repeat
- N-terminal to some SET domains
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- small cell lung cancer
- Alzheimer disease
- neoplasia
- osteosarcomagenesis
- epithelial cancer
- hepatocellular carcinoma
- acute myeloid leukemia
- bladder cancer
- chronic myeloid leukemia
- breast cancer
role in cell
- expression in
- phosphorylation in
- function
- apoptosis
- proliferation
- growth
- binding in
- response
- formation in
- 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
- nucleoplasm
- nuclear rim
- nuclear speckles
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human EHMT2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- phenotypic switching
- organ growth
- response to fungicide
- spermatid development
- synaptonemal complex assembly
- fertilization
- regulation of DNA replication
- hypermethylation of CpG island
- cellular response to starvation
- methylation-dependent chromatin silencing
- long-term memory
- negative regulation of transcription from RNA polymerase II promoter
- response to ethanol
- oocyte development
- neuron fate specification
- behavioral response to cocaine
- cellular response to cocaine
- regulation of protein modification process
- cellular response to xenobiotic stimulus
- peptidyl-lysine dimethylation
Cellular Component
Where in the cell the gene product is active
- nucleus
- nuclear speck
- chromatin
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- transcription corepressor binding
- zinc ion binding
- p53 binding
- protein binding
- C2H2 zinc finger domain binding
- histone methyltransferase activity (H3-K9 specific)
- RNA polymerase II regulatory region sequence-specific DNA binding
- protein-lysine N-methyltransferase activity
- histone methyltransferase activity (H3-K27 specific)
- enzyme binding