Human Gene C2 (ENST00000442278.6) from GENCODE V44
Description: Homo sapiens complement C2 (C2), transcript variant 2, mRNA. (from RefSeq NM_001145903) RefSeq Summary (NM_001145903): 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]. Gencode Transcript: ENST00000442278.6 Gencode Gene: ENSG00000166278.16 Transcript (Including UTRs) Position: hg38 chr6:31,927,496-31,945,671 Size: 18,176 Total Exon Count: 16 Strand: + Coding Region Position: hg38 chr6:31,927,753-31,945,357 Size: 17,605 Coding Exon Count: 16
ID:CO2_HUMAN DESCRIPTION: RecName: Full=Complement C2; EC=3.4.21.43; AltName: Full=C3/C5 convertase; Contains: RecName: Full=Complement C2b fragment; Contains: RecName: Full=Complement C2a fragment; Flags: Precursor; FUNCTION: 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 4b to generate the C3 or C5 convertase. CATALYTIC ACTIVITY: Selective 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. SUBUNIT: C2a 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. SUBCELLULAR LOCATION: Secreted. POLYMORPHISM: The 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. DISEASE: Defects in C2 are the cause of complement component 2 deficiency (C2D) [MIM:217000]. A deficiency 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 or invasive infections. MISCELLANEOUS: C2 is a major histocompatibility complex class-III protein. SIMILARITY: Belongs to the peptidase S1 family. SIMILARITY: Contains 1 peptidase S1 domain. SIMILARITY: Contains 3 Sushi (CCP/SCR) domains. SIMILARITY: Contains 1 VWFA domain. WEB RESOURCE: Name=C2base; Note=C2 mutation db; URL="http://bioinf.uta.fi/C2base/"; WEB RESOURCE: Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/c2/";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P06681
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.