| Gene Information | |
|---|---|
| Gene Name | WHSC1 |
| Organism | Homo sapiens (Human) |
| Gene Length | 1365 |
| Protein Names | Histone-lysine N-methyltransferase NSD2 (EC 2.1.1.357) (Multiple myeloma SET domain-containing protein) (MMSET) (Nuclear SET domain-containing protein 2) (Protein trithorax-5) (Wolf-Hirschhorn syndrome candidate 1 protein) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | NA |
| Evolutionary Stage | NA |
| AlphaFoldDB | O96028 |
| Gene Card | NSD2 |
| Uniprot ID | O96028 |
| Pfam | PF17907; PF17982; PF00505; PF00855; PF00856 |
| In ASD | yes |
| Allosteric Prediction | NA |
| Ortholog in Animals | NA |
| Ohnologs | NA |
| Paralogs | NA |
| Tissue | NA |
| Tissue Specificity | Widely expressed (PubMed:9618163, PubMed:18172012). Predominantly expressed in thymus and testis (PubMed:9787135, PubMed:18172012). {ECO:0000269|PubMed:18172012, ECO:0000269|PubMed:9618163, ECO:0000269|PubMed:9787135}. |
| Pharmacological Animal Models | NA |
| Gene Ontology (biological process) |
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| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
|
| PDB | 5LSU (X-ray 2.14A ) 5VC8 (X-ray 1.80A ) 6UE6 (X-ray 2.40A ) 6XCG (X-ray 1.64A ) 7CRO (EM 3.75A ) 7E8D (EM 2.80A ) 7LMT (X-ray 2.27A ) 7MDN (X-ray 2.42A ) 7VLN (X-ray 3.09A ) |
| DBSNP | NA |
| Subcellular location [CC] | Nucleus {ECO:0000269|PubMed:15677557, ECO:0000269|PubMed:16197452}. Chromosome {ECO:0000250|UniProtKB:Q8BVE8}. Note=In embryonic stem (ES) cells, localizes to small foci, probably corresponding to euchromatin (By similarity). In B-cells, localizes to Ig heavy chain switch region during class switch recombination (By similarity). {ECO:0000250|UniProtKB:Q8BVE8}.; [Isoform 1]: Nucleus {ECO:0000269|PubMed:15677557, ECO:0000269|PubMed:16197452}. Chromosome {ECO:0000269|PubMed:15677557}.; [Isoform 3]: Nucleus {ECO:0000269|PubMed:15677557, ECO:0000269|PubMed:16197452}.; [Isoform 4]: Cytoplasm {ECO:0000269|PubMed:15677557, ECO:0000269|PubMed:16197452}. Nucleus, nucleolus {ECO:0000269|PubMed:15677557, ECO:0000269|PubMed:16197452}. |
| Mouse PG classification | NA |
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