Gene: MATN2

Alternate names for this Gene: -

Gene Summary: This gene encodes a member of the von Willebrand factor A domain containing protein family. This family of proteins is thought to be involved in the formation of filamentous networks in the extracellular matrices of various tissues. This protein contains five von Willebrand factor A domains. The specific function of this gene has not yet been determined. Two transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 8

Location in Chromosome : 8q22.1-q22.2

Description of this Gene: matrilin 2

Type of Gene: protein-coding

rs113340062 in MATN2 gene and Erectile dysfunction PMID 30583798 2019 GWAS Identifies Risk Locus for Erectile Dysfunction and Implicates Hypothalamic Neurobiology and Diabetes in Etiology.

rs6987225 in MATN2 gene and Serum total cholesterol measurement PMID 22028671 2011 A genome-wide screen for interactions reveals a new locus on 4p15 modifying the effect of waist-to-hip ratio on total cholesterol.