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MGP000353

UniProt Annotations

Entry Information
Gene Namecomplement component 2
Protein Entry
UniProt IDQ8N6L6
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=3; Name=1; IsoId=P06681-1; Sequence=Displayed; Name=2; IsoId=P06681-2; Sequence=VSP_043038, VSP_043039; Note=No experimental confirmation available.; Name=3; IsoId=P06681-3; Sequence=VSP_046103; Note=No experimental confirmation available.;
Catalytic ActivitySelective cleavage of Arg-|-Ser bond in complement component C3 alpha-chain to form C3a and C3b, and Arg-|-Xaa bond in complement component C5 alpha-chain to form C5a and C5b.
DiseaseComplement component 2 deficiency (C2D) [MIM:217000]: A rare defect of the complement classical pathway associated with the development of autoimmune disorders, mainly systemic lupus erythematosus. Skin and joint manifestations are common and renal disease is relatively rare. Patients with complement component 2 deficiency are also reported to have recurrent invasive infections. {ECO:0000269|PubMed:8621452, ECO:0000269|PubMed:9670930}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DomainThe MIDAS-like motif in the VWFA domain binds divalent metal cations.
FunctionComponent 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.
MiscellaneousC2 is a major histocompatibility complex class-III protein.
PolymorphismThe variant Asp-318 is associated with a reduced risk of age-related macular degeneration (ARMD) [MIM:603075]. ARMD is a multifactorial eye disease and the most common cause of irreversible vision loss in the developed world.
SimilarityBelongs to the peptidase S1 family. {ECO:0000255|PROSITE-ProRule:PRU00274}.
SimilarityContains 1 peptidase S1 domain. {ECO:0000255|PROSITE- ProRule:PRU00274}.
SimilarityContains 1 VWFA domain. {ECO:0000255|PROSITE- ProRule:PRU00219}.
SimilarityContains 3 Sushi (CCP/SCR) domains. {ECO:0000255|PROSITE-ProRule:PRU00302}.
Subcellular LocationSecreted.
SubunitC2a interacts with Schistosoma haematobium TOR (via N- terminal extracellular domain). This results in inhibition of the classical and lectin pathway of complement activation, probably due to interference with binding of C2a to C4b such that C3 convertase cannot be formed. This infers resistance to complement- mediated cell lysis, allowing parasite survival and infection. {ECO:0000269|PubMed:10734221}.
Web ResourceName=C2base; Note=C2 mutation db; URL="http://structure.bmc.lu.se/idbase/C2base/";
Web ResourceName=SeattleSNPs; URL="http://pga.gs.washington.edu/data/c2/";
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