| 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],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., |
