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).
NCBI Gene ID Chromosome Map Location Canonical Transcript Gene Role
27436 2 2p21 NM_019063 Unknown

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Variant Impact Protein Effect Variant Description Associated with drug Resistance
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.