C3 Chromosome 19
Complement C3
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What This Gene Does
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]
Gene Info
Gene Group
"Receptor ligands|C3 and PZP like, alpha-2-macroglobulin domain containing|Complement system activation components"
Locus Type
gene with protein product
Location
19p13.3
Ensembl
ENSG00000125730
Associated Conditions (17)
Complement component 3 deficiency
Age related macular degeneration 9
Atypical hemolytic-uremic syndrome with C3 anomaly
Atypical hemolytic-uremic syndrome
C3 glomerulonephritis
C3-related disorder
Inborn genetic diseases
Kidney disorder
MACULAR DEGENERATION
AGE-RELATED
9
SUSCEPTIBILITY TO
Retinal dystrophy
Cervical cancer
Familial cancer of breast
C3 DEFICIENCY
Familial Atypical Hemolytic-Uremic Syndrome
Key Variants
RS112977278
Conflicting classifications of pathogenicity
Complement component 3 deficiency, Complement component 3 deficiency
Health Risk
RS113044084
Conflicting classifications of pathogenicity
Age related macular degeneration 9, Atypical hemolytic-uremic syndrome with C3 anomaly, Complement component 3 deficiency
Health Risk
RS113742728
Conflicting classifications of pathogenicity
Atypical hemolytic-uremic syndrome, Complement component 3 deficiency, C3 glomerulonephritis
Health Risk
RS11569534
Conflicting classifications of pathogenicity
Atypical hemolytic-uremic syndrome with C3 anomaly, Age related macular degeneration 9, Complement component 3 deficiency
Health Risk
RS11569541
Conflicting classifications of pathogenicity
C3 glomerulonephritis, Atypical hemolytic-uremic syndrome, Complement component 3 deficiency
Health Risk
RS117793540
Conflicting classifications of pathogenicity
Age related macular degeneration 9, Complement component 3 deficiency, Atypical hemolytic-uremic syndrome with C3 anomaly
Health Risk
RS121909585
Conflicting classifications of pathogenicity
Atypical hemolytic-uremic syndrome with C3 anomaly, Atypical hemolytic-uremic syndrome, Atypical hemolytic-uremic syndrome with C3 anomaly
Health Risk
RS1233140401
Conflicting classifications of pathogenicity
Atypical hemolytic-uremic syndrome with C3 anomaly, Complement component 3 deficiency, Age related macular degeneration 9
Health Risk
RS1236557685
Conflicting classifications of pathogenicity
Health Risk
RS1237544125
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1309520305
Conflicting classifications of pathogenicity
Age related macular degeneration 9, Complement component 3 deficiency, Atypical hemolytic-uremic syndrome with C3 anomaly
Health Risk
RS137956083
Conflicting classifications of pathogenicity
Age related macular degeneration 9, Complement component 3 deficiency, Atypical hemolytic-uremic syndrome with C3 anomaly
Health Risk
All Variants (126)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2145423487 | Health Risk | Likely pathogenic | — |
| RS2512223966 | Health Risk | Likely pathogenic | — |
| RS2512233215 | Health Risk | Likely pathogenic | — |
| RS2512233517 | Health Risk | Likely pathogenic | Complement component 3 deficiency, Complement component 3 deficiency |
| RS2512267009 | Health Risk | Likely pathogenic | — |
| RS771353792 | Health Risk | Likely pathogenic | Familial Atypical Hemolytic-Uremic Syndrome, Atypical hemolytic-uremic syndrome, C3 glomerulonephritis |
| RS780405372 | Health Risk | Likely pathogenic | — |
| RS112996548 | Health Risk | Pathogenic | C3 DEFICIENCY, Complement component 3 deficiency, C3 DEFICIENCY |
| RS1179773177 | Health Risk | Pathogenic | — |
| RS1568212112 | Health Risk | Pathogenic | Atypical hemolytic-uremic syndrome with C3 anomaly, Complement component 3 deficiency, Atypical hemolytic-uremic syndrome with C3 anomaly |
| RS1568229677 | Health Risk | Pathogenic | Complement component 3 deficiency, Complement component 3 deficiency |
| RS1967571311 | Health Risk | Pathogenic | — |
| RS2145438216 | Health Risk | Pathogenic | — |
| RS2512247702 | Health Risk | Pathogenic | — |
| RS2512257929 | Health Risk | Pathogenic | — |
| RS2512260688 | Health Risk | Pathogenic | — |
| RS2512262130 | Health Risk | Pathogenic | — |
| RS2512262623 | Health Risk | Pathogenic | — |
| RS2512263954 | Health Risk | Pathogenic | — |
| RS2512264048 | Health Risk | Pathogenic | — |
| RS2512264297 | Health Risk | Pathogenic | — |
| RS121909583 | Health Risk | Pathogenic/Likely pathogenic | Atypical hemolytic-uremic syndrome with C3 anomaly, Familial Atypical Hemolytic-Uremic Syndrome, Complement component 3 deficiency |
| RS1337559480 | Health Risk | Pathogenic/Likely pathogenic | Complement component 3 deficiency, Age related macular degeneration 9, Atypical hemolytic-uremic syndrome with C3 anomaly |
| RS1918142335 | Health Risk | Pathogenic/Likely pathogenic | Atypical hemolytic-uremic syndrome, Atypical hemolytic-uremic syndrome |
| RS551385421 | Health Risk | Pathogenic/Likely pathogenic | Complement component 3 deficiency, Atypical hemolytic-uremic syndrome with C3 anomaly, Age related macular degeneration 9 |
| RS776423109 | Health Risk | Pathogenic/Likely pathogenic | Atypical hemolytic-uremic syndrome with C3 anomaly, C3 glomerulonephritis, Atypical hemolytic-uremic syndrome |