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. (updated: Oct. 10, 2018)
The data and differentiation stages presented below come from the proteomic study and analysis performed by our partners of the GReX consortium, more details are available in their published work.
No sequence conservation computed yet.
Total structural coverage: 0%
No model available.
(right-click above to access to more options from the contextual menu)
The reference OMIM entry for this protein is 217000
Complement component 2 deficiency; c2d
C2 deficiency
A number sign (#) is used with this entry because complement component-2 deficiency is caused by homozygous or compound heterozygous mutation in the C2 gene (613927).
CLINICAL FEATURES
Klemperer et al. (1966, 1967) found C2 deficiency in multiple members of a kindred. No gene product was detected in those with the deficiency (homozygotes). In heterozygotes a partial deficiency of C2 was found. Restudy of the family examined by Silverstein (1960) demonstrated identical findings. None of the homozygotes has been unduly sensitive to bacterial infection or had other evident abnormality. By means of monospecific antiserum, Polley (1968) showed that homozygotes have no second component of complement and heterozygotes have an intermediate amount. Thus, the defect is failure of synthesis rather than synthesis of an inactive analog. Einstein et al. (1975) reported affected brother and sister. The sister had Henoch-Schonlein purpura and 2 previously reported patients with C2 deficiency had this disorder. Friend et al. (1975) studied 3 unrelated persons with deficiency of C2 in association with lupus erythematosus, polyarteritis and membranoproliferative glomerulonephritis. Provost et al. (1983) pointed out that heterozygous C2 deficiency has a frequency of 1 to 2%, that it usually segregates with the HLA-A25,B18,Dw2 haplotype, and that in about one-third of reported cases of homozygous C2 deficiency discoid (cutaneous) lupus and/or an SLE-like disorder is present. Cole et al. (1985) stated that about half of the reported patients with C2 deficiency have autoimmune disease, most commonly systemic lupus erythematosus, Henoch-Schonlein purpura, or polymyositis. By molecular genetic studies of cultured blood monocytes, they concluded that C2 deficiency is not caused by a major gene deletion or rearrangement but is the result of a 'specific and selective pretranslational regulatory defect in C2 gene expression.' Serum from patients with C2 deficiency lack functionally and immunologically detectable C2 protein. Johnson et al. (1992) reported 2 families with C2 deficiency. They designated the defect in the first family as type I; no detectable C2 protein was synthesized. In the second family, there appeared to be a selective block in C2 secretion; the cell lysate showed an increase in C2 and there was measurable C2 in the blood. The defect in the second family was designated as type II. Measurement of conventional C2 hemolytic functional activity did not distinguish between the defects in the 2 families. The type I defect was associated with the MHC haplotype that was found to be associated with C2 deficiency in approximately 94% of chromosomes in the series reported by Awdeh et al. (1981), i.e., haplotype A25, B18, Drw2, BFS, C2Q0, C4A4B2. In the family with type II, 2 different MHC haplotypes were associated with C2 deficiency. D'Cruz et al. (1992) described a brother and sister with homozygous C2 deficiency who developed cutaneous vasculitis and sicca syndrome. The mother had seropositive rheumatoid arthritis. D'Cruz et al. (1992) pictured the vasculitic purpuric rash on the legs of the patient. The rash started as small, raised, maculopapular lesions, some of which progressed to necrosis and ulceration followed by healing.
MAPPING
Raum et al. (1976) concluded that the CFB locus (
138470) and the C2 deficiency locus are close together (no recombinant was observed) and that the 2 loci are 3 to 5 centimorgans from the HLA-A (
142800 ...
More on the omim web site
Subscribe to this protein entry history
Jan. 21, 2019: Protein entry updated
Automatic update: OMIM entry 217000 was added.
Oct. 19, 2018: Additional information
Initial protein addition to the database. This entry was referenced in Bryk and co-workers. (2017).