Cancer Protein Description
This report provides a detailed description of a selected cancer protein with information collected from various sources, including UniProt, the Wellcome Trust Sanger Institute’s Catalogue of Somatic Mutations in Cancer (COSMIC), and the Atlas of Genetics and Cytogenetics in Oncology and Haematology.
| Protein Name: | ETV6 |
| Gene Name: | ETV6 |
| Protein Full Name: | Transcription factor ETV6 |
| Alias: | ETS translocation variant 6; Ets variant 6; Ets variant gene 6 (TEL oncogene); ETS-related protein Tel1; TEL; TEL oncogene; TEL1 |
| Mass (Da): | 53000 |
| Number AA: | 452 |
| UniProt ID: | P41212 |
| Locus ID: | 2120 |
| COSMIC ID: | ETV6 |
| Gene location on chromosome: | 12p13.1 |
| Cancer protein type: | UNCLEAR |
| Effect of cancer mutation on protein: | UNCLEAR |
| Effect of active protein on cancer: | UNCLEAR |
| Number of cancer specimens: | 23134 |
| Percent of cancer specimens with mutations: | 0.77 |
| Deregulated in translocations: | t(1;12)(p36;p13): MDS2/ETV6; t(1;12)(q21;p13): ARNT/ETV6; t(1;12)(q25;p13): ABL2/ETV6; t(3;12)(q26;p13):EVI1/ETV6; t(4;12) (p16;p13):FGFR3/ETV6; t(5;12)(q31;p13): FACL6/ETV6; t(5;12)(q33;p13): PDGFRb/ETV6; t(6;12)(q23;p13): STL/ETV6; t(7;1 |
| Normal role description: | Acts as a transcriptional repressor. Involved in vitelline angiogenesis and bone marrow hematopoiesis. A great number of translocations is involved in different leukemias and lymphomas. |