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|Synonyms||C2orf2 | ELP120 | EMAP-4 | EMAPL4 | ROPP120|
|Gene Description||EML4, EMAP like 4, plays a role in microtubule formation and stability (PMID: 16890222) and is required for cell proliferation and survival (PMID: 31366041). The fusion protein of EML4-ALK results in transformation activity and is present in a small percentage of patients with non-small cell lung cancer (PMID: 17625570, PMID: 23341890, PMID: 31366041, PMID: 31432686) and has also been reported in pulmonary atypical carcinoid (PMID: 31559892) and cholangiocarcinoma (PMID: 31711728).|
|Variant||Impact||Protein Effect||Variant Description||Associated with drug Resistance|
|EML4 - ALK||fusion||gain of function||EML4-ALK results from the fusion of EML4 and ALK, resulting in constitutive kinase activity, transformation in cultured cells, and tumor activity in mouse models (PMID: 19064915, PMID: 17625570). EML4-ALK fusions have been associated with non-small cell lung cancer (PMID: 26755435).|
|EML4 - NTRK3||fusion||gain of function||EML4-NTRK3 results from the fusion of EML4 and NTRK3 and leads to transformation of cultured cells and activation of MAPK signaling in a reporter assay (PMID: 30279230). EML4-NTRK3 has been identified in MSI-high colorectal cancer (PMID: 30279230).|
|wild-type||none||no effect||Wild-type EML4 indicates that no mutation has been detected within the EML4 gene.|