Gene: MUC4

Alternate names for this Gene: ASGP|HSA276359|MUC-4

Gene Summary: The major constituents of mucus, the viscous secretion that covers epithelial surfaces such as those in the trachea, colon, and cervix, are highly glycosylated proteins called mucins. These glycoproteins play important roles in the protection of the epithelial cells and have been implicated in epithelial renewal and differentiation. This gene encodes an integral membrane glycoprotein found on the cell surface, although secreted isoforms may exist. At least two dozen transcript variants of this gene have been found, although for many of them the full-length transcript has not been determined or they are found only in tumor tissues. This gene contains a region in the coding sequence which has a variable number (>100) of 48 nt tandem repeats.

Gene is located in Chromosome: 3

Location in Chromosome : 3q29

Description of this Gene: mucin 4, cell surface associated

Type of Gene: protein-coding

rs9714060 in MUC4 gene and Anemia, Sickle Cell PMID 28552477 2017 Genome-wide association study of erythrocyte density in sickle cell disease patients.

rs2688482 in MUC4 gene and Cystic Fibrosis PMID 26417704 2015 Genome-wide association meta-analysis identifies five modifier loci of lung disease severity in cystic fibrosis.

rs67175307 in MUC4 gene and Finding of Mean Corpuscular Hemoglobin PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs2291652 in MUC4 gene and Glomerular Filtration Rate PMID 31015462 2019 Sex-specific and pleiotropic effects underlying kidney function identified from GWAS meta-analysis.

rs77370297 in MUC4 gene and RDW - Red blood cell distribution width result PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs77370297 in MUC4 gene and Red cell distribution width determination PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs73085315 in MUC4 gene and Smoking PMID 26053186 2015 Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.

rs73085315 in MUC4 gene and Smoking Behaviors PMID 26053186 2015 Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.