Gene Detail

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Gene Symbol EML4
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).

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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.