SET wt Allele - CISMeF

Preferred Label : SET wt Allele;

NCIt synonyms : Template-Activating Factor-I, Chromatin Remodelling Factor Gene; TAF-IBETA; 2PP2A; I2PP2A; PHAPII; IPP2A2; TAF-I; SET Nuclear Proto-Oncogene wt Allele; SET Translocation (Myeloid Leukemia-Associated) Gene; MRD58; Protein Phosphatase Type 2A Inhibitor; IGAAD;

NCIt definition : Human SET wild-type allele is located within 9q34 and is approximately 12 kb in length. This allele, which encodes protein SET, plays a role in histone binding, nucleosome assembly, transcription and negative regulation of apoptosis. Translocation of the SET gene is associated with acute undifferentiated leukemia.;

NCIt note : In acute undifferentiated leukemia, the SET gene has been shown to undergo translocation t(6;9)(q21;q34.1) to form a fusion gene with the NUP214 gene. SET gene expression is responsive to serum factors, contact inhibition and differentiation. This gene produces two isoforms of protein SET via alternative RNA splicing.;

GenBank Accession Number : NM_003011;

Details

Origin ID

C51415;

UMLS CUI

C1705230;

OMIM relation
- Set nuclear protooncogene [OMIM gene]
See also inter- (CISMeF)
- Intellectual developmental disorder, autosomal dominant 58 [OMIM Phenotype]
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
- Myeloid Leukemia [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 9q34 [NCIt concept]
gene_is_element_in_pathway
- Granzyme A Mediated Apoptosis Pathway [NCIt concept]
gene_plays_role_in_process
- Enzyme Inhibition [NCIt concept]
- Negative Regulation of Apoptosis [NCIt concept]
- Signal Transduction [NCIt concept]

Keyword's position in hierarchy(ies) :

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