Complement Component 2

Alternative Names

  • C2
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OMIM Number

613927

NCBI Gene ID

717

Uniprot ID

P06681

Length

47,890 bases

No. of Exons

20

No. of isoforms

3

Protein Name

Complement C2

Molecular Mass

83268 Da

Amino Acid Count

752

Genomic Location

chr6:31,897,783-31,945,672

Gene Map Locus
6p21.33

Description

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.[From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_000063.6:c.839_849delSaudi ArabiaNC_000006.12:g.31934289_31934299delLikely PathogenicPathogenicComplement Component 2 DeficiencyNG_011730.1:g.11801_11811del; NM_000063.6:c.839_849del; NP_000054.2:p.Met280AsnfsTer51770220135915386
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