SETDB2 Gene Summary [Human]
This gene encodes a member of a family of proteins that contain a methyl-CpG-binding domain (MBD) and a SET domain and function as histone methyltransferases. This protein is recruited to heterochromatin and plays a role in the regulation of chromosome segregation. This region is commonly deleted in chronic lymphocytic leukemia. Naturally-occuring readthrough transcription occurs from this gene to the downstream PHF11 (PHD finger protein 11) gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]
Details
| Type | Protein Coding |
| Official Symbol | SETDB2 |
| Official Name | SET domain bifurcated histone lysine methyltransferase 2 [Source:HGNC Symbol;Acc:HGNC:20263] |
| Ensembl ID | ENSG00000136169 |
| Bio databases IDs | |
| Aliases | SET domain bifurcated histone lysine methyltransferase 2 |
| Synonyms | C13orf4, CLLD8, CLLL8, Gm293, H3-K9-HMTase, KMT1F, LOC102552532, SET domain, bifurcated 2, SET domain bifurcated histone lysine methyltransferase 2 |
| 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 SETDB2 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 lysine N-methyltransferase activity (H3-K9 specific)
- Pre-SET motif
- histone methyltransferase
- PHD-like zinc-binding domain
- SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
- SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain superfamily
- SET domain
- PHD finger superfamily
- enzyme
- protein binding
- MBD
- 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.
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
- cytosol
- nucleoplasm
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SETDB2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cell division
- negative regulation of gene expression
- heterochromatin organization
- chromatin remodeling
- negative regulation of transcription, DNA-dependent
- chromosome segregation
- heart looping
- positive regulation of methylation-dependent chromatin silencing
- mitotic cell cycle
- left/right axis specification
- methylation
Cellular Component
Where in the cell the gene product is active
- nucleus
- cytosol
- chromosome
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- DNA binding
- zinc ion binding
- protein binding
- histone methyltransferase activity (H3-K9 specific)