C2 complement C2
Gene ID: 717, updated on 5-Mar-2024Gene type: protein coding
Also known as: CO2; ARMD14
- See all available tests in GTR for this gene
- Go to complete Gene record for C2
- Go to Variation Viewer for C2 variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association study of hepatitis B vaccine response in an Indonesian population reveals multiple independent risk variants in the HLA region. GeneReviews: Not available | |
| Age related macular degeneration 14 | See labs |
| Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration. GeneReviews: Not available | |
| Complement component 2 deficiency | See labs |
| Genetic factors in nonsmokers with age-related macular degeneration revealed through genome-wide gene-environment interaction analysis. GeneReviews: Not available | |
| Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration. GeneReviews: Not available | |
| Genetic variations at loci involved in the immune response are risk factors for hepatocellular carcinoma. GeneReviews: Not available | |
| Genome-wide and gene-centric analyses of circulating myeloperoxidase levels in the charge and care consortia. GeneReviews: Not available | |
| Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC). GeneReviews: Not available | |
| GWAS identifies novel SLE susceptibility genes and explains the association of the HLA region. GeneReviews: Not available | |
| Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes. GeneReviews: Not available | |
| Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array. GeneReviews: Not available | |
| Seven new loci associated with age-related macular degeneration. GeneReviews: Not available | |
| The genetic architecture of economic and political preferences. GeneReviews: Not available |
Genomic context
- Location:
- 6p21.33
- Sequence:
- Chromosome: 6; NC_000006.12 (31897783..31945672)
- Total number of exons:
- 20
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for C2 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- C2 database
- C2base: Mutation registry for C2 deficiency
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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