ETV6/JAK2 Fusion Protein

Preferred Label : ETV6/JAK2 Fusion Protein;

NCIt synonyms : TEL/JAK2 Fusion Protein; ETV6-JAK2 Fusion Protein; Transcription Factor ETV6/Tyrosine-Protein Kinase JAK2 Fusion Protein; ETV6::JAK2 Fusion Protein;

NCIt definition : A fusion protein encoded by the ETV6/JAK2 fusion gene. This protein is comprised of the N-terminal half of the transcription factor ETV6 protein, including the pointed domain and the helix-loop-helix oligomerization domain, fused to the C-terminal tyrosine kinase domains of the tyrosine-protein kinase JAK2 protein.;

NCIt note : The helix-loop-helix domain of the transcription factor ETV6 protein may provide a dimerization interface for kinase domain of the tyrosine-protein kinase JAK2, which activates its tyrosine kinase activity. (Atlas of Genetics and Cytogenetics in Oncology and Haematology);

Details

Origin ID

C99417;

UMLS CUI

C3274724;

Semantic type(s)
- Amino Acid, Peptide, or Protein [UMLS semantic type]
- Biologically Active Substance [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_encodes_gene_product
- ETV6/JAK2 Fusion Gene [NCIt concept]
- Fusion Gene [NCIt concept]
gene_product_plays_role_in_biological_process
- Tyrosine Phosphorylation [NCIt concept]
related_to_genetic_biomarker
- ETV6 Gene [NCIt concept]
- JAK2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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