Aliases for C2 Gene
External Ids for C2 Gene
Component C2 is a serum glycoprotein that functions as part of the classical pathway of the complement system. Activated C1 cleaves C2 into C2a and C2b. The serine proteinase C2a then combines with complement factor 4b to create the C3 or C5 convertase. Deficiency of C2 has been reported to associated with certain autoimmune diseases and SNPs in this gene have been associated with altered susceptibility to age-related macular degeneration. This gene localizes within the class III region of the MHC on the short arm of chromosome 6. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional transcript variants have been described in publications but their full-length sequence has not been determined.[provided by RefSeq, Mar 2009]
GeneCards Summary for C2 Gene
C2 (Complement Component 2) is a Protein Coding gene. Diseases associated with C2 include c2 deficiency and complement component c2 deficiency. Among its related pathways are Complement and coagulation cascades and Complement and coagulation cascades. GO annotations related to this gene include serine-type endopeptidase activity. An important paralog of this gene is ENSG00000244255.
UniProtKB/Swiss-Prot for C2 Gene
Component C2 which is part of the classical pathway of the complement system is cleaved by activated factor C1 into two fragments: C2b and C2a. C2a, a serine protease, then combines with complement factor C4b to generate the C3 or C5 convertase