NSD2 Gene Summary [Human]
This gene encodes a protein that contains four domains present in other developmental proteins: a PWWP domain, an HMG box, a SET domain, and a PHD-type zinc finger. It is expressed ubiquitously in early development. Wolf-Hirschhorn syndrome (WHS) is a malformation syndrome associated with a hemizygous deletion of the distal short arm of chromosome 4. This gene maps to the 165 kb WHS critical region and has also been involved in the chromosomal translocation t(4;14)(p16.3;q32.3) in multiple myelomas. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. Some transcript variants are nonsense-mediated mRNA (NMD) decay candidates, hence not represented as reference sequences. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | NSD2 |
| Official Name | nuclear receptor binding SET domain protein 2 [Source:HGNC Symbol;Acc:HGNC:12766] |
| Ensembl ID | ENSG00000109685 |
| Bio databases IDs | |
| Aliases | nuclear receptor binding SET domain protein 2, multiple myeloma SET domain containing protein |
| Synonyms | 5830445G22Rik, 9430010A17Rik, C130020C13RIK, D030027O06RIK, D930023B08RIK, KMT3F, KMT3G, LOC682525, mKIAA1090, MMSET, nuclear receptor binding SET domain protein 2, RAUST, RGD1565590, TRX5, WHS, WHSC1, WHSC1L |
| 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 NSD2 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
- AWS domain
- catalytic domain
- high mobility group (HMG)-box domain superfamily
- SET binding domain
- PWWP domain
- PWWP (Pro-Trp-Trp-Pro) domain
- chromatin binding
- protein binding
- sequence-specific DNA binding
- histone lysine N-methyltransferase activity (H4-K20 specific)
- associated with SET domains
- histone methyltransferase
- histone lysine N-methyltransferase activity (H3-K36 specific)
- SET domain
- SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain superfamily
- high mobility group
- PHD finger superfamily
- NSD Cys-His rich 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
- liver cancer
- epithelial cancer
- metastasis
- tumorigenesis
- hematologic cancer
- organismal death
- hereditary disorder
- rauch-steindl syndrome
- hepatocellular carcinoma
role in cell
- expression in
- apoptosis
- phosphorylation in
- proliferation
- growth
- accumulation in
- activation in
- adhesion
- transcription in
- binding 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
- Cytoplasm
- nucleoplasm
- nucleoli
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human NSD2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of double-strand break repair via nonhomologous end joining
- atrial septum secundum morphogenesis
- regulation of transcription, DNA-dependent
- atrial septum primum morphogenesis
- bone development
- double-strand break repair
- negative regulation of transcription from RNA polymerase II promoter
- positive regulation of isotype switching to IgA isotypes
- membranous septum morphogenesis
- chromatin remodeling
- regulation of establishment of protein localization
- methylation
Cellular Component
Where in the cell the gene product is active
- nucleus
- cytoplasm
- nucleolus
- chromatin
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- protein binding
- metal ion binding
- histone methyltransferase activity (H3-K36 specific)
- sequence-specific DNA binding
- chromatin binding
- histone methyltransferase activity (H4-K20 specific)