NSD2 wt Allele

Preferred Label : NSD2 wt Allele;

NCIt synonyms : REIIBP; TRX5; WHSC1 wt Allele; Nuclear Receptor Binding SET Domain Protein 2 wt Allele; WHSC1; Wolf-Hirschhorn Syndrome Candidate 1 Gene; KIAA1090; WHS; MMSET; KMT3G; KMT3F;

NCIt definition : Human NSD2 wild-type allele is located in the vicinity of 4p16.3 and is approximately 111 kb in length. This allele, which encodes histone-lysine N-methyltransferase NSD2 protein, plays a role in the induction of histone methylation. A t(4;14)(p16.3;q32) translocation in multiple myeloma results in dysregulation of the NSD2 gene, resulting in the promotion of oncogenic transformation.;

GenBank Accession Number : NM_007331;

Details

Origin ID

C50395;

UMLS CUI

C1710644;

Automatic exact mappings (from CISMeF team)
- Nuclear receptor-binding set domain protein 2 [OMIM gene]
- Wolf-hirschhorn syndrome [OMIM Phenotype]
- nuclear receptor binding SET domain protein 2 [ORDO Gene]
OMIM relation
- Nuclear receptor-binding set domain protein 2 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_associated_with_disease
- Wolf-Hirschhorn Syndrome [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 4p16.3 [NCIt concept]
gene_is_element_in_pathway
- Lysine Degradation Pathway [NCIt concept]
gene_plays_role_in_process
- Histone Methylation [NCIt concept]
- Methylation [NCIt concept]

Keyword's position in hierarchy(ies) :

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