Gene: MASP2

Alternate names for this Gene: MAP19|MASP-2|MASP1P1|sMAP

Gene Summary: This gene encodes a member of the peptidase S1 family of serine proteases. The encoded preproprotein is proteolytically processed to generate A and B chains that heterodimerize to form the mature protease. This protease cleaves complement components C2 and C4 in order to generate C3 convertase in the lectin pathway of the complement system. The encoded protease also plays a role in the coagulation cascade through cleavage of prothrombin to form thrombin. Myocardial infarction and acute stroke patients exhibit reduced serum concentrations of the encoded protein. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed.

Gene is located in Chromosome: 1

Location in Chromosome : 1p36.22

Description of this Gene: mannan binding lectin serine peptidase 2

Type of Gene: protein-coding

rs72550870 in MASP2 gene and MASP2 Deficiency PMID 19234189 2009 Polymorphisms in mannan-binding lectin (MBL)-associated serine protease 2 affect stability, binding to MBL, and enzymatic activity.

PMID 15086395 2004 Mannan-binding lectin insufficiency in children with recurrent infections of the respiratory system.

PMID 24658431 2015 Mannan-binding lectin-associated serine protease-2 (MASP-2) deficiency in two patients with pulmonary tuberculosis and one healthy control.

PMID 17252003 2007 Deficiency of mannan-binding lectin associated serine protease-2 due to missense polymorphisms.

PMID 24332888 2014 Lectin pathway of complement activation in a Polish woman with MASP-2 deficiency.

PMID 17137870 2006 Low clinical penetrance of mannose-binding lectin-associated serine protease 2 deficiency.

PMID 12904520 2003 Inherited deficiency of mannan-binding lectin-associated serine protease 2.

rs12072993 in MASP2 gene and Serum total cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.