Search for a gene
ETV6 - ETS variant transcription factor 6
- Synonym(s) : TEL, TEL oncogene
- Previous symbols and names : ETS variant 6, Ets variant gene 6 (TEL oncogene), ets variant gene 6 (TEL oncogene)
- Type : gene with protein product
- Chromosomal location : 12p13.2
- OMIM: 600618
- HGNC: 3495
- UniProtKB: P41212
- Genatlas: ETV6
- GenCC: ETV6
- Ensembl: ENSG00000139083
- IUPHAR-DB: -
- Reactome: P41212
- LOVD: ETV6
Diseases list
- Disease-causing germline mutation(s) in Familial platelet disorder with associated myeloid malignancy
ORPHA:71290 
- Part of a fusion gene in B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1)
ORPHA:585929 - Part of a fusion gene in Chronic myelomonocytic leukemia
ORPHA:98823 - Part of a fusion gene in Congenital mesoblastic nephroma
ORPHA:2665 - Part of a fusion gene in Differentiated thyroid carcinoma
ORPHA:146 - Part of a fusion gene in Fibrosarcoma
ORPHA:2030 - Part of a fusion gene in Primary hypereosinophilic syndrome
ORPHA:314950
: AssessedAdditional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.
Orphanet is part of the Gene Curation Coalition, a global effort to harmonise gene-level resources.