Cancer Protein Description
This report provides a detailed description of a selected cancer protein with information collected from various sources, including UniProt, the Wellcome Trust Sanger Institute’s Catalogue of Somatic Mutations in Cancer (COSMIC), and the Atlas of Genetics and Cytogenetics in Oncology and Haematology.
| Protein Name: | WHSC1 |
| Gene Name: | WHSC1 |
| Protein Full Name: | Probable histone-lysine N-methyltransferase NSD2 |
| Alias: | MMSET; NSD2; Nuclear SET domain-containing protein 2; Similar to Wolf-Hirschhorn syndrome candidate 1; TRX5; WHSC1 protein; Wolf-Hirschhorn syndrome candidate 1; Wolf-Hirschhorn syndrome candidate 1(MMSET) |
| Mass (Da): | 152258 |
| Number AA: | 1365 |
| UniProt ID: | O96028 |
| Locus ID: | 7468 |
| COSMIC ID: | WHSC1 |
| Gene location on chromosome: | 4p16.3 |
| Cancer protein type: | OP |
| Effect of cancer mutation on protein: | GAIN |
| Effect of active protein on cancer: | UNCLEAR |
| Number of cancer specimens: | 20555 |
| Percent of cancer specimens with mutations: | 1.14 |
| Mutations observed as inherited: | Wolf-Hirschhorn syndrome (WHS) - congenital syndrome |
| Deregulated in translocations: | t(4;14)(p16;q32); The t(4;14) Translocation Identifies MMSET as an oncogene in Multiple Myeloma. The gene rearrangement links the Eµ enhancer 5' to MMSET, driving transcription of MMSET from the telomeric-centromeric direction. The reciprocal translocatio |
| Normal role description: | WHSC1 is a histone methyltransferase. It may act as a transcription regulator that binds DNA and suppresses IL5 transcription. Translocation has been described in MM and appears to drive oncogenesis by overexpression of FGFR3. WHSC1 is also overexpressed in this translocation and this may independently drive oncogenesis through an unknwon mechanism |