PRG4 Chromosome 1
Proteoglycan 4
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What This Gene Does
The protein encoded by this gene is a large proteoglycan that is synthesized by chondrocytes located at the surface of articular cartilage and by some synovial lining cells. This protein contains both chondroitin sulfate and keratan sulfate glycosaminoglycans. It functions as a boundary lubricant at the cartilage surface and contributes to the elastic absorption and energy dissipation of synovial fluid. Mutations in this gene result in camptodactyly-arthropathy-coxa vara-pericarditis syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
Associated Conditions (3)
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome
Abnormality of the skeletal system
Inborn genetic diseases
Key Variants
RS1656851989
Conflicting classifications of pathogenicity
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, Camptodactyly-arthropathy-coxa vara-pericarditis syndrome
Health Risk
RS1271513895
Likely pathogenic
Abnormality of the skeletal system, Abnormality of the skeletal system
Health Risk
RS1657235121
Likely pathogenic
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, Camptodactyly-arthropathy-coxa vara-pericarditis syndrome
Health Risk
RS1657371141
Likely pathogenic
Health Risk
RS2102020754
Likely pathogenic
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, Camptodactyly-arthropathy-coxa vara-pericarditis syndrome
Health Risk
RS2526327036
Likely pathogenic
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, Camptodactyly-arthropathy-coxa vara-pericarditis syndrome
Health Risk
RS2526450332
Likely pathogenic
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, Camptodactyly-arthropathy-coxa vara-pericarditis syndrome
Health Risk
RS772404077
Likely pathogenic
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, Camptodactyly-arthropathy-coxa vara-pericarditis syndrome
Health Risk
RS1258207620
Pathogenic
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, Camptodactyly-arthropathy-coxa vara-pericarditis syndrome
Health Risk
RS1284076232
Pathogenic
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, Camptodactyly-arthropathy-coxa vara-pericarditis syndrome
Health Risk
RS1369814055
Pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1388040598
Pathogenic
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, Camptodactyly-arthropathy-coxa vara-pericarditis syndrome
Health Risk
All Variants (39)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1656851989 | Health Risk | Conflicting classifications of pathogenicity | Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, Camptodactyly-arthropathy-coxa vara-pericarditis syndrome |
| RS1271513895 | Health Risk | Likely pathogenic | Abnormality of the skeletal system, Abnormality of the skeletal system |
| RS1657235121 | Health Risk | Likely pathogenic | Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, Camptodactyly-arthropathy-coxa vara-pericarditis syndrome |
| RS1657371141 | Health Risk | Likely pathogenic | — |
| RS2102020754 | Health Risk | Likely pathogenic | Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, Camptodactyly-arthropathy-coxa vara-pericarditis syndrome |
| RS2526327036 | Health Risk | Likely pathogenic | Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, Camptodactyly-arthropathy-coxa vara-pericarditis syndrome |
| RS2526450332 | Health Risk | Likely pathogenic | Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, Camptodactyly-arthropathy-coxa vara-pericarditis syndrome |
| RS772404077 | Health Risk | Likely pathogenic | Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, Camptodactyly-arthropathy-coxa vara-pericarditis syndrome |
| RS1258207620 | Health Risk | Pathogenic | Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, Camptodactyly-arthropathy-coxa vara-pericarditis syndrome |
| RS1284076232 | Health Risk | Pathogenic | Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, Camptodactyly-arthropathy-coxa vara-pericarditis syndrome |
| RS1369814055 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1388040598 | Health Risk | Pathogenic | Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, Camptodactyly-arthropathy-coxa vara-pericarditis syndrome |
| RS1475926873 | Health Risk | Pathogenic | Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, Camptodactyly-arthropathy-coxa vara-pericarditis syndrome |
| RS1557943002 | Health Risk | Pathogenic | Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, Camptodactyly-arthropathy-coxa vara-pericarditis syndrome |
| RS1571563202 | Health Risk | Pathogenic | Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, Camptodactyly-arthropathy-coxa vara-pericarditis syndrome |
| RS1571569884 | Health Risk | Pathogenic | Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, Camptodactyly-arthropathy-coxa vara-pericarditis syndrome |
| RS1571575523 | Health Risk | Pathogenic | Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, Camptodactyly-arthropathy-coxa vara-pericarditis syndrome |
| RS1571587012 | Health Risk | Pathogenic | Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, Camptodactyly-arthropathy-coxa vara-pericarditis syndrome |
| RS1657377652 | Health Risk | Pathogenic | Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, Camptodactyly-arthropathy-coxa vara-pericarditis syndrome |
| RS2102025845 | Health Risk | Pathogenic | Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, Camptodactyly-arthropathy-coxa vara-pericarditis syndrome |
| RS2102028973 | Health Risk | Pathogenic | Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, Camptodactyly-arthropathy-coxa vara-pericarditis syndrome |
| RS2102031816 | Health Risk | Pathogenic | Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, Camptodactyly-arthropathy-coxa vara-pericarditis syndrome |
| RS2102038969 | Health Risk | Pathogenic | — |
| RS2526383275 | Health Risk | Pathogenic | Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, Camptodactyly-arthropathy-coxa vara-pericarditis syndrome |
| RS2526394168 | Health Risk | Pathogenic | Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, Camptodactyly-arthropathy-coxa vara-pericarditis syndrome |
| RS2526433101 | Health Risk | Pathogenic | — |
| RS2526444928 | Health Risk | Pathogenic | — |
| RS387906339 | Health Risk | Pathogenic | Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, Camptodactyly-arthropathy-coxa vara-pericarditis syndrome |
| RS745371972 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS748663740 | Health Risk | Pathogenic | Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, Camptodactyly-arthropathy-coxa vara-pericarditis syndrome |
| RS748999850 | Health Risk | Pathogenic | Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, Camptodactyly-arthropathy-coxa vara-pericarditis syndrome |
| RS763025365 | Health Risk | Pathogenic | Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, Camptodactyly-arthropathy-coxa vara-pericarditis syndrome |
| RS769917456 | Health Risk | Pathogenic | Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, Camptodactyly-arthropathy-coxa vara-pericarditis syndrome |
| RS776645239 | Health Risk | Pathogenic | Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, Camptodactyly-arthropathy-coxa vara-pericarditis syndrome |
| RS778569928 | Health Risk | Pathogenic | — |
| RS780281715 | Health Risk | Pathogenic | Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, Camptodactyly-arthropathy-coxa vara-pericarditis syndrome |
| RS1406678014 | Health Risk | Pathogenic/Likely pathogenic | Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, Camptodactyly-arthropathy-coxa vara-pericarditis syndrome |
| RS768053349 | Health Risk | Pathogenic/Likely pathogenic | Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, Camptodactyly-arthropathy-coxa vara-pericarditis syndrome |
| RS773621375 | Health Risk | Pathogenic/Likely pathogenic | Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, Camptodactyly-arthropathy-coxa vara-pericarditis syndrome |