SETD2 Gene Summary [Human]
Huntington's disease (HD), a neurodegenerative disorder characterized by loss of striatal neurons, is caused by an expansion of a polyglutamine tract in the HD protein huntingtin. This gene encodes a protein belonging to a class of huntingtin interacting proteins characterized by WW motifs. This protein is a histone methyltransferase that is specific for lysine-36 of histone H3, and methylation of this residue is associated with active chromatin. This protein also contains a novel transcriptional activation domain and has been found associated with hyperphosphorylated RNA polymerase II. [provided by RefSeq, Aug 2008]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | SETD2 |
| Official Name | SET domain containing 2, histone lysine methyltransferase [Source:HGNC Symbol;Acc:HGNC:18420] |
| Ensembl ID | ENSG00000181555 |
| Bio databases IDs | |
| Aliases | SET domain containing 2, histone lysine methyltransferase |
| Synonyms | 4921524K10RIK, HBP231, HIF-1, HIP-1, HSPC069, HYPB, KMT3A, LLS, MRD70, p231HBP, RAPAS, SET2, SET domain containing 2, SET domain containing 2, histone lysine methyltransferase |
| 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 SETD2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
- AWS domain
- Cysteine-rich motif following a subset of SET domains
- catalytic domain
- SET binding domain
- enzyme
- protein binding
- WW domain
- protein-lysine N-methyltransferase
- PostSET domain
- SRI (Set2 Rpb1 interacting) domain
- associated with SET domains
- histone methyltransferase
- Domain with 2 conserved Trp (W) residues
- histone lysine N-methyltransferase activity (H3-K36 specific)
- WW class II binding domain
- SET domain
- SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain superfamily
- WW
- alpha-tubulin binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- cancer
- breast cancer
- epithelial cancer
- urogenital cancer
- epithelial neoplasia
- neoplasia
- liver cancer
- benign neoplasia
- abdominal cancer
- brain cancer
role in cell
- expression in
- activation in
- migration
- phosphorylation in
- cell death
- proliferation
- invasion by
- cellular infiltration by
- outgrowth
- organization
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- Nucleus
- chromosome
- nucleoplasm
- axons
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SETD2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cell migration involved in vasculogenesis
- embryonic placenta morphogenesis
- transcription elongation from RNA polymerase II promoter
- morphogenesis of a branching structure
- nucleosome organization
- positive regulation of interferon-alpha production
- forebrain development
- neural tube closure
- stem cell differentiation
- angiogenesis
- regulation of cytokinesis
- defense response to virus
- response to metal ion
- regulation of mRNA export from nucleus
- response to type I interferon
- coronary vasculature morphogenesis
- embryonic cranial skeleton morphogenesis
- regulation of transcription, DNA-dependent
- response to alkaloid
- response to organic cyclic compound
- stem cell development
- mismatch repair
- pericardium development
- positive regulation of ossification
- positive regulation of autophagy
- mesoderm morphogenesis
- endodermal cell differentiation
- regulation of gene expression
- peptidyl-lysine trimethylation
- regulation of double-strand break repair via homologous recombination
Cellular Component
Where in the cell the gene product is active
- nucleus
- cytoplasm
- chromosome
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- protein binding
- metal ion binding
- histone methyltransferase activity (H3-K36 specific)
- alpha-tubulin binding
- protein-lysine N-methyltransferase activity