Gene: EML4

Alternate names for this Gene: C2orf2|ELP120|EMAP-4|EMAPL4|ROPP120

Gene Summary: This gene is a member of the echinoderm microtubule associated protein-like family. The encoded WD-repeat protein may be involved in microtubule formation. Abnormal fusion of parts of this gene with portions of the anaplastic lymphoma receptor tyrosine kinase gene, which generates EML4-ALK fusion transcripts, is one of the primary mutations associated with non-small cell lung cancer. Alternative splicing of this gene results in two transcript variants.

Gene is located in Chromosome: 2

Location in Chromosome : 2p21

Description of this Gene: EMAP like 4

Type of Gene: protein-coding

rs12466981 in EML4 gene and Chronic Obstructive Airway Disease PMID 30804561 2019 Genetic landscape of chronic obstructive pulmonary disease identifies heterogeneous cell-type and phenotype associations.

rs6736913 in EML4 gene and Pyloric Stenosis, Hypertrophic PMID 30281099 2019 Genome-wide meta-analysis identifies BARX1 and EML4-MTA3 as new loci associated with infantile hypertrophic pyloric stenosis.