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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|
|E127*||nonsense||loss of function - predicted||EML4 E127* results in a premature truncation of the Eml4 protein at amino acid 127 of 981 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), E127* is predicted to predicted to lead to a loss of Eml4 protein function.|
|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).|
|EML4 - RET||fusion||unknown||EML4-RET results from the fusion of EML4 and RET (PMID: 33082208). EML4-RET has been identified in lung cancer (PMID: 33082208, PMID: 31485557, PMID: 30487236), but has not been biochemically characterized and therefore, the effect on protein function is unknown (PubMed, Nov 2020).|
|fusion||fusion||unknown||EML4 fusion indicates a fusion of the EML4 gene, but the fusion partner is unknown.|
|inact mut||unknown||loss of function||EML4 inact mut indicates that this variant results in a loss of function of the Eml4 protein. However, the specific amino acid change has not been identified.|
|mutant||unknown||unknown||EML4 mutant indicates an unspecified mutation in the EML4 gene.|
|wild-type||none||no effect||Wild-type EML4 indicates that no mutation has been detected within the EML4 gene.|