TEL Rabbit Polyclonal Antibody

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.