Gene: MUC21

Alternate names for this Gene: C6orf205|KMQK697|MUC-21

Gene Summary: This gene encodes a large membrane-bound glycoprotein which is a member of the mucin family. Mucins are O-glycosylated proteins that play an essential role in forming protective mucous barriers on epithelial surfaces. These proteins also play a role in intracellular signaling. The encoded protein contains an N-terminal signal sequence, an extracellular mucin domain, a stem domain, a transmembrane domain, and a C-terminal cytoplasmic tail domain. The mucin domain contains O-glycosylation sites and is polymorphic with isoforms containing a variable number of nonidentical proline-, threonine-, and serine-rich tandem repeats of 15 amino acids each. The aberrent expression of this gene is associated with lung adenocarcinoma.

Gene is located in Chromosome: 6

Location in Chromosome : 6p21.33

Description of this Gene: mucin 21, cell surface associated

Type of Gene: protein-coding

rs9295938 in MUC21 gene and ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO PMID 21051598 2010 The major genetic determinants of HIV-1 control affect HLA class I peptide presentation.

rs9295938 in MUC21 gene and AIDS, PROGRESSION TO PMID 21051598 2010 The major genetic determinants of HIV-1 control affect HLA class I peptide presentation.

rs1634731 in MUC21 gene and Diabetes Mellitus, Insulin-Dependent PMID 17632545 2007 A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene.

rs9295938 in MUC21 gene and HIV-1, RESISTANCE TO PMID 21051598 2010 The major genetic determinants of HIV-1 control affect HLA class I peptide presentation.

rs9295938 in MUC21 gene and HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO PMID 21051598 2010 The major genetic determinants of HIV-1 control affect HLA class I peptide presentation.

rs886403 in MUC21 gene and Lupus Erythematosus, Systemic PMID 24871463 2014 GWAS identifies novel SLE susceptibility genes and explains the association of the HLA region.

rs886403 in MUC21 gene and Myasthenia Gravis PMID 23055271 2012 Risk for myasthenia gravis maps to a (151) Pro→Ala change in TNIP1 and to human leukocyte antigen-B*08.