GATA2/MECOM Fusion Gene

Preferred Label : GATA2/MECOM Fusion Gene;

NCIt synonyms : GATA2-MECOM Fusion Gene; GATA2::MECOM Fusion Gene;

NCIt definition : A fusion gene that results from a chromosomal rearrangement either t(3;3)(q21;q26) or inv(3)(q21q26) which fuses the promoter sequences from the GATA2 gene on either the 5' or 3' side of the coding sequence of the MECOM gene. This rearrangement is associated with overexpression of the histone-lysine N-methyltransferase MECOM protein and 3q21q26 syndrome-related leukemias.;

NCIt note : For this acute myeloid leukemia-associated fusion the involvment of the GATA2 gene was originally mislocalized to the RPN1 gene.;

NCI Metathesaurus CUI : CL1378674;

Details

Origin ID

C168765;

UMLS CUI

C5239099;

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_involved_in_molecular_abnormality
- inv(3)(q21.3;q26.2) [NCIt concept]
- t(3;3)(q21.3;q26.2) [NCIt concept]
related_to_genetic_biomarker
- GATA2 Gene [NCIt concept]
- MECOM Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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