Aliases for MASP2 Gene
- Mannan Binding Lectin Serine Peptidase 2 2 3 5
- Mannan-Binding Lectin Serine Peptidase 1 Pseudogene 1 2 3
- Mannose-Binding Protein-Associated Serine Protease 2 3 4
- Mannan-Binding Lectin Serine Protease 1 Pseudogene 1 2 3
- Mannan-Binding Lectin Serine Protease 2 2 3
- MBL-Associated Serine Protease 2 3 4
- MASP-2 3 4
External Ids for MASP2 Gene
Previous HGNC Symbols for MASP2 Gene
Previous GeneCards Identifiers for MASP2 Gene
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]
GeneCards Summary for MASP2 Gene
MASP2 (Mannan Binding Lectin Serine Peptidase 2) is a Protein Coding gene. Diseases associated with MASP2 include Masp2 Deficiency and Mannose-Binding Lectin Deficiency. Among its related pathways are Creation of C4 and C2 activators and Complement and coagulation cascades. Gene Ontology (GO) annotations related to this gene include calcium ion binding and peptidase activity. An important paralog of this gene is MASP1.
UniProtKB/Swiss-Prot for MASP2 Gene
Serum protease that plays an important role in the activation of the complement system via mannose-binding lectin. After activation by auto-catalytic cleavage it cleaves C2 and C4, leading to their activation and to the formation of C3 convertase.