C3 complement C3
Gene ID: 718, updated on 6-May-2024Gene type: protein coding
Also known as: ASP; C3a; C3b; AHUS5; ARMD9; CPAMD1; HEL-S-62p
- See all available tests in GTR for this gene
- Go to complete Gene record for C3
- Go to Variation Viewer for C3 variants
Summary
Complement component C3 plays a central role in the activation of complement system. Its activation is required for both classical and alternative complement activation pathways. The encoded preproprotein is proteolytically processed to generate alpha and beta subunits that form the mature protein, which is then further processed to generate numerous peptide products. The C3a peptide, also known as the C3a anaphylatoxin, modulates inflammation and possesses antimicrobial activity. Mutations in this gene are associated with atypical hemolytic uremic syndrome and age-related macular degeneration in human patients. [provided by RefSeq, Nov 2015]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Age related macular degeneration 9 | See labs |
| Atypical hemolytic-uremic syndrome with C3 anomaly | See labs |
| Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration. GeneReviews: Not available | |
| Complement component 3 deficiency | See labs |
| Discovery and refinement of loci associated with lipid levels. GeneReviews: Not available | |
| Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration. GeneReviews: Not available | |
| Genome-wide association identifies SKIV2L and MYRIP as protective factors for age-related macular degeneration. GeneReviews: Not available | |
| Genome-wide association study for serum complement C3 and C4 levels in healthy Chinese subjects. 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 | |
| Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes. GeneReviews: Not available | |
| Seven new loci associated with age-related macular degeneration. GeneReviews: Not available |
Genomic context
- Location:
- 19p13.3
- Sequence:
- Chromosome: 19; NC_000019.10 (6677704..6720650, complement)
- Total number of exons:
- 41
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for C3 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- C3 database
- C3base: Mutation registry for C3 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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