NP_001978.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
53,000 Da
NCBI Official Full Name
transcription factor ETV6
NCBI Official Synonym Full Names
ets variant 6
NCBI Protein Information
transcription factor ETV6
UniProt Protein Name
Transcription factor ETV6
UniProt Synonym Protein Names
ETS translocation variant 6; ETS-related protein Tel1; Tel
UniProt Synonym Gene Names
UniProt Entry Name
ETV6_HUMAN
NCBI Summary for ETV6
This gene encodes an ETS family transcription factor. The product of this gene contains two functional domains: a N-terminal pointed (PNT) domain that is involved in protein-protein interactions with itself and other proteins, and a C-terminal DNA-binding domain. Gene knockout studies in mice suggest that it is required for hematopoiesis and maintenance of the developing vascular network. This gene is known to be involved in a large number of chromosomal rearrangements associated with leukemia and congenital fibrosarcoma. [provided by RefSeq, Sep 2008]
UniProt Comments for ETV6
Tel: Transcriptional repressor; binds to the DNA sequence 5'- CCGGAAGT-3'. A chromosomal aberration involving ETV6 is found in a form of chronic myelomonocytic leukemia (CMML). Translocation t(5;12)(q33;p13) with PDGFRB. It is characterized by abnormal clonal myeloid proliferation and by progression to acute myelogenous leukemia (AML). Chromosomal aberrations involving ETV6 are found in a form of acute myeloid leukemia (AML). Translocation t(12;22)(p13;q11) with MN1; translocation t(4;12)(q12;p13) with CHIC2. Chromosomal aberrations involving ETV6 are found in childhood acute lymphoblastic leukemia (ALL). Translocations t(12;21)(p12;q22) and t(12;21)(p13;q22) with RUNX1/AML1. A chromosomal aberration involving ETV6 is found in a form of pre-B acute myeloid leukemia. Translocation t(9;12)(p24;p13) with JAK2. A chromosomal aberration involving ETV6 is found in myelodysplastic syndrome (MDS) with basophilia. Translocation t(5;12)(q31;p13) with ACSL6. A chromosomal aberration involving ETV6 is found in acute eosinophilic leukemia (AEL). Translocation t(5;12)(q31;p13) with ACSL6. A chromosomal aberration involving ETV6 is found in myelodysplastic syndrome (MDS). Translocation t(1;12)(p36.1;p13) with MDS2. Defects in ETV6 are a cause of myeloproliferative disorder chronic with eosinophilia (MPE). A hematologic disorder characterized by malignant eosinophils proliferation. A chromosomal aberration involving ETV6 is found in many instances of myeloproliferative disorder chronic with eosinophilia. Translocation t(5;12) with PDGFRB on chromosome 5 creating an ETV6-PDGFRB fusion protein. Defects in ETV6 are a cause of acute myelogenous leukemia (AML). AML is a malignant disease in which hematopoietic precursors are arrested in an early stage of development. A chromosomal aberration involving ETV6 is found in acute lymphoblastic leukemia. Translocation t(9;12)(p13;p13) with PAX5. Belongs to the ETS family.
Protein type: Oncoprotein; Transcription factor; Motility/polarity/chemotaxis; DNA-binding
Chromosomal Location of Human Ortholog: 12p13
Cellular Component: cytoplasm; nucleolus
Molecular Function: protein domain specific binding; protein binding; transcription factor activity
Biological Process: transcription from RNA polymerase II promoter; regulation of transcription from RNA polymerase II promoter; positive regulation of transcription from RNA polymerase II promoter; negative regulation of transcription from RNA polymerase II promoter; cell differentiation
Disease: Thrombocytopenia 5
Research Articles on ETV6
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Products associated with anti-ETV6 antibody
Pathways associated with anti-ETV6 antibody
Diseases associated with anti-ETV6 antibody
Organs/Tissues associated with anti-ETV6 antibody
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