Reference Gene

Gene name Alias Species Exons Type Paralogs EC number OMIM
MASP2 MBL associated serine protease 2 sMAP , MAP-2 , MAP19 , MASP-2 , MASP1P1 Homo sapiens 12 protein-coding HP , HPR , C1RL , C1R , C1S , MASP1 3.4.21.104 605102

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. [provided by RefSeq, Feb 2016]

GeneOntology

Gene Loss events - MASP2 (1 results)

GL_ID Species Order Gene Loss Mechanism Loss Type Lineage Specific Citation
GL_K2D4PX Physeter catodon Artiodactyla Other Full Physeter 10.1093/gbe/evx187