Symbol
| ETS1
| contributors: mct - updated : 18-05-2015
|
HGNC name
| v-ets erythroblastosis virus E26 oncogene homolog 1 (avian)
|
HGNC id
| 3488
|
Other morbid association(s)
|
Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
---|
tumoral
| fusion
| translocation
|  
|  
|
translocated t(11;19) (q23;p13) in ALL, fused with EWSR1 | tumoral
|  
|  
| --over
|  
|
in both primary breast cancers and breast cancer cell lines, in progression and with metastasis | tumoral
|  
|  
| --other
|  
|
deregulation of ETS1 and FLI1 contributes to the pathogenesis of diffuse large B-cell lymphoma | |
Susceptibility
|
systemic lupus erythematous |
Variant & Polymorphism
SNP
| 3' UTR polymorphism associated with systemic erythematous (SLE), allele 1 with discoid lesions, allele 7 with vasculitis |
|
|
Candidate gene
Marker
Therapy target
|
System | Type | Disorder | Pubmed |
cancer | reproductive | breast | |
target in breast cancer therapy, in cooperation with ERBB2 and MMP1 |
| | | |
| homozygous Ets1 deletion mice had large membranous ventricular septal defects, abnormal-appearing left ventricular morphology, characterized by a bifid cardiac apex, and non-apex-forming left ventricle | |
Ets1-deficient mice develop a lupus-like disease characterized by high titers of immunoglobulin M (IgM) and IgG autoantibodies and immune-complex deposition in the kidneys |