C2 Gene

The C2 gene (C2 stands for "complement C2") is a protein-coding gene located on chromosome 6p21.33. Alternative splicing results in multiple transcript variants encoding different isoforms.

Component C2 is a serum glycoprotein that functions as a building block in the classical pathway of the complement system. Activated C1 cleaves C2 into C2a and C2b. Serine proteinase C2a then combines with complement factor 4b to form C3 or C5 convertase.

Diseases associated with C2 include complement component 2 deficiency (OMIM: 217000; Cole FS et al. 1985; D'Cruz et al. 1992) and age-related macular degeneration 14 (Macular Degeneration, Age-Related, 14).

1. Cole FS et al (1985) The molecular basis for genetic deficiency of the second component of human complement. New Eng J Med 313: 11-16.
2. D'Cruz et al.(1992) Complement factor 2 deficiency: a clinical and serological family study. Ann Rheum Dis 51: 1254-1256.
3. Einstein LP et al (1975) Biosynthetic defect in monocytes from human beings with genetic deficiency of the second component of complement. New Eng J Med 292: 1169-1171.
4. Johnson CA et al (1992) Molecular heterogeneity of C2 deficiency. New Eng. J Med 326: 871-874.
5. Králíčková P et al. (2020) Inherited C2-complement deficiency: variable clinical manifestation (case reports and review). Vnitr Lek 66: 87-91.