ETV6
entrez
2120
canonical
uniprot
P41212
canonical
ensembl
ENSG00000139083
resolver
ensp
ENSP00000379658
resolver
ensp
ENSP00000574981
resolver
ensp
ENSP00000574982
resolver
ensp
ENSP00000797045
resolver
enst
ENST00000396373
resolver
genesymbol
ETV6
resolver
genesymbol_syn
TEL
resolver
genesymbol_syn
TEL1
resolver
hgnc
HGNC:3495
resolver
uniprot
A0A0S2Z3C9
resolver
uniprot
A0A0S2Z3N6
resolver
uniprot
A3QVP6
resolver
uniprot
A8K076
resolver
uniprot
Q9UMF6
resolver
uniprot
Q9UMF7
resolver
uniprot
Q9UMG0
resolver
uniprot_entry
A0A0S2Z3C9_HUMAN
resolver
uniprot_entry
A0A0S2Z3N6_HUMAN
resolver
uniprot_entry
ETV6_HUMAN
resolver
uniprot_sec
A3QVP6
resolver
uniprot_sec
A8K076
resolver
uniprot_sec
Q9UMF6
resolver
uniprot_sec
Q9UMF7
resolver
uniprot_sec
Q9UMG0
resolver
amino_acid_sequence
MSETPAQCSIKQERISYTPPESPVPSYASSTPLHVPVPRALRMEEDSIRLPAHLRLQPIYWSRDDVAQWLKWAENEFSLRPIDSNTFEMNGKALLLLTKEDFRYRSPHSGDVLYELLQHILKQRKPRILFSPFFHPGNSIHTQPEVILHQNHEEDNCVQRTPRPSVDNVHHNPPTIELLHRSRSPITTNHRPSPDPEQRPLRSPLDNMIRRLSPAERAQGPRPHQENNHQESYPLSVSPMENNHCPASSESHPKPSSPRQESTRVIQLMPSPIMHPLILNPRHSVDFKQSRLSEDGLHREGKPINLSHREDLAYMNHIMVSVSPPEEHAMPIGRIADCRLLWDYVYQLLSDSRYENFIRWEDKESKIFRIVDPNGLARLWGNHKNRTNMTYEKMSRALRHYYKLNIIRKEPGQRLLFRFMKTPDEIMSGRTDRLEHLESQELDEQIYQEDEC
uniprot
proteins
disease_involvement
DISEASE: Note=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). {ECO:0000269|PubMed:8168137}.; DISEASE: Note=Chromosomal aberrations involving ETV6 are found in acute myeloid leukemia (AML). Translocation t(12;22)(p13;q11) with MN1 (PubMed:7731705). Translocation t(4;12)(q12;p13) with CHIC2 (PubMed:10477709). {ECO:0000269|PubMed:10477709, ECO:0000269|PubMed:7731705}.; DISEASE: Note=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. {ECO:0000269|PubMed:7761424}.; DISEASE: Note=A chromosomal aberration involving ETV6 is found in a form of pre-B acute lymphoid leukemia. Translocation t(9;12)(p24;p13) with JAK2. {ECO:0000269|PubMed:9326218}.; DISEASE: Note=A chromosomal aberration involving ETV6 and JAK2 is found in an atypical chronic myelogenous leukemia. Translocation t(9;15;12)(p24;q15;p13). {ECO:0000269|PubMed:9326218}.; DISEASE: Note=A chromosomal aberration involving ETV6 is found in myelodysplastic syndrome (MDS) with basophilia. Translocation t(5;12)(q31;p13) with ACSL6. {ECO:0000269|PubMed:10502316}.; DISEASE: Note=A chromosomal aberration involving ETV6 is found in acute eosinophilic leukemia (AEL). Translocation t(5;12)(q31;p13) with ACSL6. {ECO:0000269|PubMed:10502316}.; DISEASE: Note=A chromosomal aberration involving ETV6 is found in myelodysplastic syndrome (MDS). Translocation t(1;12)(p36.1;p13) with MDS2. {ECO:0000269|PubMed:12203785}.; DISEASE: Note=A chromosomal aberration involving ETV6 is found in acute lymphoblastic leukemia. Translocation t(9;12)(p13;p13) with PAX5. {ECO:0000269|PubMed:17344859}.; DISEASE: Myeloproliferative disorder chronic with eosinophilia (MPE) [MIM:131440]: A hematologic disorder characterized by malignant eosinophils proliferation. {ECO:0000269|PubMed:12181402}. Note=The gene represented in this entry is involved in disease pathogenesis. 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. {ECO:0000269|PubMed:12181402}.; DISEASE: Leukemia, acute myelogenous (AML) [MIM:601626]: A subtype of acute leukemia, a cancer of the white blood cells. AML is a malignant disease of bone marrow characterized by maturational arrest of hematopoietic precursors at an early stage of development. Clonal expansion of myeloid blasts occurs in bone marrow, blood, and other tissue. Myelogenous leukemias develop from changes in cells that normally produce neutrophils, basophils, eosinophils and monocytes. {ECO:0000269|PubMed:15806161}. Note=The gene represented in this entry is involved in disease pathogenesis.; DISEASE: Thrombocytopenia 5 (THC5) [MIM:616216]: A form of thrombocytopenia, a hematologic disorder defined by a decrease in the number of platelets in circulating blood, resulting in the potential for increased bleeding and decreased ability for clotting. THC5 is an autosomal dominant disorder, associated with an increased susceptibility to the development of hematologic and solid malignancies. {ECO:0000269|PubMed:25581430}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Transcriptional repressor; binds to the DNA sequence 5'-CCGGAAGT-3'. Plays a role in hematopoiesis and malignant transformation. {ECO:0000269|PubMed:25581430}.
uniprot
proteins
mass_dalton
53000
uniprot
proteins
mutagenesis
MUTAGEN 22; /note="S->A: No effect."; MUTAGEN 213; /note="S->A: No effect."; /evidence="ECO:0000269|PubMed:12435397"; MUTAGEN 238; /note="S->A: No effect."; /evidence="ECO:0000269|PubMed:12435397"; MUTAGEN 257; /note="S->A: No phosphorylation by MAPK14."; /evidence="ECO:0000269|PubMed:12435397
uniprot
proteins
post_translational_modification
PTM: Phosphorylation of Ser-257 by MAPK14 (p38) inhibits ETV6 transcriptional repression. {ECO:0000269|PubMed:12435397}.
uniprot
proteins
protein_family
ETS family
uniprot
proteins
pubmed
10477709
uniprot
proteins
pubmed
10502316
uniprot
proteins
pubmed
12181402
uniprot
proteins
pubmed
12203785
uniprot
proteins
pubmed
12435397
uniprot
proteins
pubmed
12588862
uniprot
proteins
pubmed
12590135
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15806161
uniprot
proteins
pubmed
17344859
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
25218447
uniprot
proteins
pubmed
25581430
uniprot
proteins
pubmed
25755297
uniprot
proteins
pubmed
25772364
uniprot
proteins
pubmed
28112733
uniprot
proteins
pubmed
7731705
uniprot
proteins
pubmed
7761424
uniprot
proteins
pubmed
7780150
uniprot
proteins
pubmed
8168137
uniprot
proteins
pubmed
8743990
uniprot
proteins
pubmed
9326218
uniprot
proteins
sequence_length
452
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus.
uniprot
proteins