PROC Chromosome 2
Protein C, inactivator of coagulation factors Va and VIIIa
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What This Gene Does
This gene encodes a vitamin K-dependent plasma glycoprotein. The encoded protein is cleaved to its activated form by the thrombin-thrombomodulin complex. This activated form contains a serine protease domain and functions in degradation of the activated forms of coagulation factors V and VIII. Mutations in this gene have been associated with thrombophilia due to protein C deficiency, neonatal purpura fulminans, and recurrent venous thrombosis.[provided by RefSeq, Dec 2009]
Gene Info
Gene Group
"Receptor ligands|Gla domain containing"
Locus Type
gene with protein product
Location
2q14.3
Ensembl
ENSG00000115718
Associated Conditions (12)
Thrombophilia due to protein C deficiency
autosomal dominant
autosomal recessive
PROC-related disorder
Deep venous thrombosis
Reduced protein C activity
Inborn genetic diseases
Thrombophilia 3 due to protein C deficiency
Thromboembolism
Hereditary thrombophilia due to congenital protein C deficiency
Abnormal thrombosis
Cerebral palsy
Key Variants
RS1211098698
Conflicting classifications of pathogenicity
Thrombophilia due to protein C deficiency, autosomal dominant, autosomal recessive
Health Risk
RS121918150
Conflicting classifications of pathogenicity
Thrombophilia due to protein C deficiency, autosomal recessive, autosomal dominant
Health Risk
RS121918156
Conflicting classifications of pathogenicity
Thrombophilia due to protein C deficiency, autosomal recessive, Deep venous thrombosis
Health Risk
RS1247902323
Conflicting classifications of pathogenicity
Thrombophilia due to protein C deficiency, autosomal dominant, Thrombophilia due to protein C deficiency
Health Risk
RS1284942525
Conflicting classifications of pathogenicity
Thrombophilia due to protein C deficiency, autosomal dominant, Thrombophilia due to protein C deficiency
Health Risk
RS1305782685
Conflicting classifications of pathogenicity
Thrombophilia due to protein C deficiency, autosomal dominant, Thrombophilia due to protein C deficiency
Health Risk
RS138057813
Conflicting classifications of pathogenicity
Thrombophilia due to protein C deficiency, autosomal dominant, PROC-related disorder
Health Risk
RS1436671530
Conflicting classifications of pathogenicity
Inborn genetic diseases, Thrombophilia due to protein C deficiency, autosomal dominant
Health Risk
RS1442363621
Conflicting classifications of pathogenicity
Health Risk
RS145800354
Conflicting classifications of pathogenicity
Thrombophilia due to protein C deficiency, autosomal dominant, PROC-related disorder
Health Risk
RS146922325
Conflicting classifications of pathogenicity
Thrombophilia due to protein C deficiency, autosomal dominant, Reduced protein C activity
Health Risk
RS148108718
Conflicting classifications of pathogenicity
Thrombophilia due to protein C deficiency, autosomal dominant, PROC-related disorder
Health Risk
All Variants (126)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS757925208 | Health Risk | Pathogenic | Thrombophilia due to protein C deficiency, autosomal dominant, Thrombophilia due to protein C deficiency |
| RS764546127 | Health Risk | Pathogenic | Thrombophilia due to protein C deficiency, autosomal dominant, Thrombophilia due to protein C deficiency |
| RS772629538 | Health Risk | Pathogenic | Thrombophilia due to protein C deficiency, autosomal dominant, Thrombophilia due to protein C deficiency |
| RS780456728 | Health Risk | Pathogenic | Thrombophilia due to protein C deficiency, autosomal dominant, autosomal recessive |
| RS897196091 | Health Risk | Pathogenic | Thrombophilia due to protein C deficiency, autosomal dominant, Thrombophilia due to protein C deficiency |
| RS121918143 | Health Risk | Pathogenic/Likely pathogenic | Thrombophilia due to protein C deficiency, autosomal recessive, autosomal dominant |
| RS121918146 | Health Risk | Pathogenic/Likely pathogenic | Thrombophilia due to protein C deficiency, autosomal recessive, autosomal dominant |
| RS121918148 | Health Risk | Pathogenic/Likely pathogenic | Thrombophilia due to protein C deficiency, autosomal recessive, PROC-related disorder |
| RS121918149 | Health Risk | Pathogenic/Likely pathogenic | Thrombophilia due to protein C deficiency, autosomal recessive, Abnormal thrombosis |
| RS121918152 | Health Risk | Pathogenic/Likely pathogenic | Thrombophilia due to protein C deficiency, autosomal dominant, PROC-related disorder |
| RS121918153 | Health Risk | Pathogenic/Likely pathogenic | Thrombophilia due to protein C deficiency, autosomal dominant, Reduced protein C activity |
| RS121918154 | Health Risk | Pathogenic/Likely pathogenic | Thrombophilia due to protein C deficiency, autosomal dominant, Thromboembolism |
| RS121918160 | Health Risk | Pathogenic/Likely pathogenic | Thrombophilia due to protein C deficiency, autosomal dominant, Thrombophilia due to protein C deficiency |
| RS1321566264 | Health Risk | Pathogenic/Likely pathogenic | Thrombophilia due to protein C deficiency, autosomal dominant, Deep venous thrombosis |
| RS1333329860 | Health Risk | Pathogenic/Likely pathogenic | Thrombophilia due to protein C deficiency, autosomal dominant, Thrombophilia due to protein C deficiency |
| RS142742242 | Health Risk | Pathogenic/Likely pathogenic | Thrombophilia due to protein C deficiency, autosomal dominant, Reduced protein C activity |
| RS1450037999 | Health Risk | Pathogenic/Likely pathogenic | Thrombophilia due to protein C deficiency, autosomal dominant, Thrombophilia due to protein C deficiency |
| RS199469470 | Health Risk | Pathogenic/Likely pathogenic | Thrombophilia due to protein C deficiency, autosomal dominant, autosomal recessive |
| RS199469471 | Health Risk | Pathogenic/Likely pathogenic | Thrombophilia due to protein C deficiency, autosomal dominant, autosomal recessive |
| RS199469476 | Health Risk | Pathogenic/Likely pathogenic | Thrombophilia due to protein C deficiency, autosomal dominant, Thrombophilia due to protein C deficiency |
| RS201907715 | Health Risk | Pathogenic/Likely pathogenic | Reduced protein C activity, Thrombophilia due to protein C deficiency, autosomal dominant |
| RS2468376955 | Health Risk | Pathogenic/Likely pathogenic | Thrombophilia due to protein C deficiency, autosomal dominant, Thrombophilia due to protein C deficiency |
| RS757583846 | Health Risk | Pathogenic/Likely pathogenic | Thrombophilia due to protein C deficiency, autosomal dominant, autosomal recessive |
| RS758576042 | Health Risk | Pathogenic/Likely pathogenic | Thrombophilia due to protein C deficiency, autosomal dominant, Reduced protein C activity |
| RS767112991 | Health Risk | Pathogenic/Likely pathogenic | Thrombophilia due to protein C deficiency, autosomal dominant, autosomal recessive |
| RS774572099 | Health Risk | Pathogenic/Likely pathogenic | Thrombophilia due to protein C deficiency, autosomal dominant, autosomal recessive |