ETV6

Transcription factor ETV6 ;
ETS translocation variant 6 ;
ETS-related protein Tel1 ;
Tel ;

disease:A chromosomal aberration involving ETV6 is a cause in many instances of chronic myeloproliferative disorder with eosinophilia (MPE) [MIM:131440]. Translocation t(5;12) with PDGFRB on chromosome 5 creating an ETV6-PDGFRB fusion protein.,disease:A chromosomal aberration involving ETV6 is a cause of acute lymphoblastic leukemia. Translocation t(9;12)(p13;p13) with PAX5.,disease:A chromosomal aberration involving ETV6 is a cause of myelodysplastic syndrome (MDS). Translocation t(1;12)(p36.1;p13) with MDS2.,disease: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).,disease:A chromosomal aberration involving ETV6 is found in a form of pre-B acute myeloid leukemia. Translocation t(9;12)(p24;p13) with JAK2.,disease:A chromosomal aberration involving ETV6 may be a cause of acute eosinophilic leukemia (AEL). Translocation t(5;12)(q31;p13) with ACSL6.,disease:A chromosomal aberration involving ETV6 may be a cause of myelodysplastic syndrome (MDS) with basophilia. Translocation t(5;12)(q31;p13) with ACSL6.,disease: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.,disease: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.,disease:Defects in ETV6 are a cause of acute myelogenous leukemia (AML) [MIM:601626]. AML is a malignant disease in which hematopoietic precursors are arrested in an early stage of development.,function:Transcriptional repressor; binds to the DNA sequence 5'-CCGGAAGT-3'.,PTM:Phosphorylated.,PTM:Phosphorylation of Ser-257 by MAPK14 (p38) inhibits ETV6 transcriptional repression.,similarity:Belongs to the ETS family.,similarity:Contains 1 ETS DNA-binding domain.,similarity:Contains 1 PNT (pointed) domain.,subunit:Can form homodimers or heterodimers with TEL2 or FLI1. Interacts with L3MBTL and HDAC9.,tissue specificity:Ubiquitous.,

transcription, regulation of transcription, DNA-dependent, regulation of transcription, regulation of RNA metabolic process,

Nucleus.

Ubiquitous.