C5 Chromosome 9
Complement C5
Upload your DNA to see your personal genotypes for variants in C5.
What This Gene Does
This gene encodes a component of the complement system, a part of the innate immune system that plays an important role in inflammation, host homeostasis, and host defense against pathogens. The encoded preproprotein is proteolytically processed to generate multiple protein products, including the C5 alpha chain, C5 beta chain, C5a anaphylatoxin and C5b. The C5 protein is comprised of the C5 alpha and beta chains, which are linked by a disulfide bridge. Cleavage of the alpha chain by a convertase enzyme results in the formation of the C5a anaphylatoxin, which possesses potent spasmogenic and chemotactic activity, and the C5b macromolecular cleavage product, a subunit of the membrane attack complex (MAC). Mutations in this gene cause complement component 5 deficiency, a disease characterized by recurrent bacterial infections. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2015]
Gene Info
Gene Group
"Receptor ligands|C3 and PZP like, alpha-2-macroglobulin domain containing|Complement system activation components|Membrane Attack complex"
Locus Type
gene with protein product
Location
9q33.2
Ensembl
ENSG00000106804
Associated Conditions (7)
Complement component 5 deficiency
Eculizumab
poor response to
C5-related disorder
Colon adenocarcinoma
Gastric cancer
Lathosterolosis
Key Variants
RS138509814
Conflicting classifications of pathogenicity
Complement component 5 deficiency, Eculizumab, poor response to
Health Risk
RS1396273375
Conflicting classifications of pathogenicity
Health Risk
RS141704823
Conflicting classifications of pathogenicity
C5-related disorder, Colon adenocarcinoma, C5-related disorder
Health Risk
RS145461325
Conflicting classifications of pathogenicity
C5-related disorder, Gastric cancer, C5-related disorder
Health Risk
RS147430470
Conflicting classifications of pathogenicity
Complement component 5 deficiency, Complement component 5 deficiency
Health Risk
RS150280452
Conflicting classifications of pathogenicity
Health Risk
RS200624729
Conflicting classifications of pathogenicity
Health Risk
RS201280694
Conflicting classifications of pathogenicity
Eculizumab, poor response to, Complement component 5 deficiency
Health Risk
RS34362143
Conflicting classifications of pathogenicity
Health Risk
RS370834994
Conflicting classifications of pathogenicity
Eculizumab, poor response to, Complement component 5 deficiency
Health Risk
RS371131390
Conflicting classifications of pathogenicity
Eculizumab, poor response to, Complement component 5 deficiency
Health Risk
RS548333233
Conflicting classifications of pathogenicity
Health Risk
All Variants (52)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS138509814 | Health Risk | Conflicting classifications of pathogenicity | Complement component 5 deficiency, Eculizumab, poor response to |
| RS1396273375 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS141704823 | Health Risk | Conflicting classifications of pathogenicity | C5-related disorder, Colon adenocarcinoma, C5-related disorder |
| RS145461325 | Health Risk | Conflicting classifications of pathogenicity | C5-related disorder, Gastric cancer, C5-related disorder |
| RS147430470 | Health Risk | Conflicting classifications of pathogenicity | Complement component 5 deficiency, Complement component 5 deficiency |
| RS150280452 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200624729 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201280694 | Health Risk | Conflicting classifications of pathogenicity | Eculizumab, poor response to, Complement component 5 deficiency |
| RS34362143 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS370834994 | Health Risk | Conflicting classifications of pathogenicity | Eculizumab, poor response to, Complement component 5 deficiency |
| RS371131390 | Health Risk | Conflicting classifications of pathogenicity | Eculizumab, poor response to, Complement component 5 deficiency |
| RS548333233 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS564964646 | Health Risk | Conflicting classifications of pathogenicity | Complement component 5 deficiency, Complement component 5 deficiency |
| RS758651657 | Health Risk | Conflicting classifications of pathogenicity | Complement component 5 deficiency, Eculizumab, poor response to |
| RS758685448 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS771791383 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS772444483 | Health Risk | Conflicting classifications of pathogenicity | C5-related disorder, C5-related disorder |
| RS777563958 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS779247145 | Health Risk | Conflicting classifications of pathogenicity | Complement component 5 deficiency, Eculizumab, poor response to |
| RS780707722 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1270324533 | Health Risk | Likely pathogenic | — |
| RS1362872776 | Health Risk | Likely pathogenic | — |
| RS1554718962 | Health Risk | Likely pathogenic | Complement component 5 deficiency, Complement component 5 deficiency |
| RS1564131885 | Health Risk | Likely pathogenic | — |
| RS191466386 | Health Risk | Likely pathogenic | Complement component 5 deficiency, Eculizumab, poor response to |
| RS2540426895 | Health Risk | Likely pathogenic | — |
| RS2540458625 | Health Risk | Likely pathogenic | — |
| RS746499570 | Health Risk | Likely pathogenic | — |
| RS746623019 | Health Risk | Likely pathogenic | — |
| RS750416999 | Health Risk | Likely pathogenic | Complement component 5 deficiency, Eculizumab, poor response to |
| RS774775053 | Health Risk | Likely pathogenic | — |
| RS1172785743 | Health Risk | Pathogenic | — |
| RS121909587 | Health Risk | Pathogenic | Complement component 5 deficiency, Eculizumab, poor response to |
| RS121909588 | Health Risk | Pathogenic | Complement component 5 deficiency, Eculizumab, poor response to |
| RS1351288163 | Health Risk | Pathogenic | — |
| RS1459526637 | Health Risk | Pathogenic | — |
| RS1459689539 | Health Risk | Pathogenic | — |
| RS2047317144 | Health Risk | Pathogenic | — |
| RS2131773916 | Health Risk | Pathogenic | — |
| RS2131803905 | Health Risk | Pathogenic | — |
| RS2540377790 | Health Risk | Pathogenic | — |
| RS2540400714 | Health Risk | Pathogenic | — |
| RS2540430178 | Health Risk | Pathogenic | — |
| RS2540461112 | Health Risk | Pathogenic | — |
| RS2540464494 | Health Risk | Pathogenic | — |
| RS375555428 | Health Risk | Pathogenic | — |
| RS387906554 | Health Risk | Pathogenic | Complement component 5 deficiency, Complement component 5 deficiency |
| RS587776846 | Health Risk | Pathogenic | Complement component 5 deficiency, Complement component 5 deficiency |
| RS755068898 | Health Risk | Pathogenic | — |
| RS759960744 | Health Risk | Pathogenic | — |