Transcription Factor ETV6

Preferred Label : Transcription Factor ETV6;

NCIt synonyms : ETS-Related Protein Tel1; ETV6 Gene Product; TEL Protein; ETS Translocation Variant 6; ETV6; ETS Variant Gene 6 Protein; Tel;

NCIt definition : Transcription factor ETV6 (452 aa, 53 kDa) is encoded by the human ETV6 gene. This protein plays a role in transcriptional repression.;

NCIt note : TEL protein is a member of the ETS family of transcription factors. It has an HLH motif and an ETS DNA-binding domain. Translocations of the gene produce chimeric proteins in many leukemias of myeloid or lymphoid origins. Leukemogenic translocations often fuse the TEL HLH domain with the tyrosine kinase domain of other genes, such as PDGFRB, NTRK3, and ABL2 or with other transcription factors, such as AML1 and ARNT. (OMIM); Transcription factor ETV6 binds to the DNA sequence 5'-CCGGAAGT-3'. (UniProt);

Details

Origin ID

C17798;

UMLS CUI

C1568122;

OMIM relation
- Ets variant transcription factor 6 [OMIM gene]
Semantic type(s)
- Amino Acid, Peptide, or Protein [UMLS semantic type]
- Biologically Active Substance [UMLS semantic type]
UMLS correspondences (same concept)
- ETV6 protein, human [MeSH concept]
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 Gene [NCIt concept]
- Regulatory Gene [NCIt concept]
- Transcription Factor Gene [NCIt concept]
- Transcription Regulation Gene [NCIt concept]
gene_product_has_associated_anatomy
- Nucleus [NCIt concept]
gene_product_has_biochemical_function
- DNA Binding Protein [NCIt concept]
gene_product_has_chemical_classification
- ETS Family Protein [NCIt concept]
gene_product_has_organism_source
- Human [NCIt concept]
gene_product_has_structural_domain_or_motif
- ETS Domain [NCIt concept]
gene_product_is_element_in_pathway
- Dorso-Ventral Axis Formation Pathway [NCIt concept]
gene_product_plays_role_in_biological_process
- DNA Binding [NCIt concept]
- Hematopoietic Process [NCIt concept]
- Transcriptional Regulation [NCIt concept]

Keyword's position in hierarchy(ies) :

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