PROC Gene - Protein C (Inactivator of Coagulation Factors Va and VIIIa)

Essential anticoagulant serine protease; deficiency leads to thrombophilia

Gene Information Card

Symbol PROC
Full Name Protein C, inactivator of coagulation factors Va and VIIIa
Gene Type protein-coding
Chromosomal Location 2q14.3
NCBI Gene ID 5624 ncbi.nlm.nih.gov/gene/5624
Ensembl ID ENSG00000115718
UniProt ID P04070
OMIM ID 176860
HGNC ID 9451
Aliases PROC1, PC, APC, THPH3, THPH4

Description

The PROC gene (2q14.3) encodes protein C, a vitamin K-dependent serine protease zymogen. Activated protein C (APC) exerts potent anticoagulant effects by proteolytically inactivating coagulation factors Va and VIIIa. It also exhibits anti-inflammatory and cytoprotective activities. PROC mutations cause autosomal dominant or recessive thrombophilia, neonatal purpura fulminans, and warfarin-induced skin necrosis.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Hereditary thrombophilia due to protein C deficiency Loss-of-function mutations reduce APC levels or activity, impairing anticoagulation and increasing venous thromboembolism risk. OMIM #176860; ClinVar
Purpura fulminans, neonatal Biallelic PROC mutations cause severe protein C deficiency leading to disseminated intravascular coagulation and skin necrosis. OMIM #612304; NCBI Gene
Warfarin-induced skin necrosis Heterozygous PROC deficiency combined with warfarin therapy causes transient hypercoagulable state and microvascular thrombosis. ClinVar; OMIM #176860

Expression Profile

Tissue Expression
Tissue nTPM level
Liver 12.5 High
Kidney 1.2 Low
Heart 0.8 Low
Lung 0.5 Low
Brain 0.1 Not detected
Cell Line Expression
Cell Line nTPM Notes
HepG2 15.3 Hepatocyte cell line; high expression
HEK293 0.4 Low expression
K562 0.2 Very low expression
Data source：Human Protein Atlas（proteinatlas.org）

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.1218G>A (p.Trp406Ter) Nonsense <1% Loss of function; protein truncation
c.574_576del (p.Lys192del) Deletion <1% Loss of function; impaired secretion
c.1381C>T (p.Arg461Cys) Missense <1% Loss of function; reduced activity
Mutation functional classification

Loss of Function (LOF)

Most PROC mutations cause quantitative (type I) or qualitative (type II) protein C deficiency, reducing anticoagulant capacity.

Gain of Function (GOF)

Not reported for PROC.

Dominant Negative (DN)

Heterozygous missense mutations can exert dominant-negative effects by interfering with dimerization or secretion.
View complete mutation data：
ClinVar：https://www.clinvar.com/gene/5624
COSMIC：https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=PROC

Gene Ontology (GO)

• serine-type endopeptidase activity (GO:0004252) • calcium ion binding (GO:0005509)
• blood coagulation (GO:0007596) • regulation of signaling receptor activity (GO:0010469)
• negative regulation of blood coagulation (GO:0031639) • negative regulation of fibrinolysis (GO:0051918)

Pathways

• KEGG hsa04610 – Complement and coagulation cascades
• Reactome R-HSA-140837 – Intrinsic pathway of fibrin clot formation
• Reactome R-HSA-140877 – Formation of Fibrin Clot (Clotting Cascade)
• Reactome R-HSA-1592389 – Activated protein C signaling

Protein Summary

Protein C is a vitamin K-dependent glycoprotein synthesized in the liver as a single-chain zymogen. It is activated by thrombin-thrombomodulin complex on endothelial cells. Activated protein C (APC) cleaves and inactivates factors Va and VIIIa, requiring protein S as a cofactor. APC also exerts anti-inflammatory effects via protease-activated receptor 1 (PAR1). The mature protein contains a Gla domain, two EGF-like domains, and a serine protease domain.

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Related Products

Product name Cat.No. Species Gene ID
PROC Knockout HEK293 Cell Line EDJ-KQ2414 Human 5624 Details Get a Quote
PROCR Knockout HEK293 Cell Line EDJ-KQ7086 Human 10544 Details Get a Quote
PROCA1 Knockout HEK293 Cell Line EDJ-KQ10539 Human 147011 Details Get a Quote
PROC Knockout HeLa Cell Line EDJ-KQ22917 Human 5624 Details Get a Quote
PROCR Knockout HCT 116 Cell Line EDJ-KQ31924 Human 10544 Details Get a Quote
PROCR Knockout HeLa Cell Line EDJ-KQ31925 Human 10544 Details Get a Quote
PROCA1 Knockout A-549 Cell Line EDJ-KQ37974 Human 147011 Details Get a Quote
PROCA1 Knockout HeLa Cell Line EDJ-KQ37975 Human 147011 Details Get a Quote
PROC Knockout A-549 Cell Line EDJ-KQ22916 Human 5624 Details Get a Quote
PROCR Knockout A-549 Cell Line EDJ-KQ30540 Human 10544 Details Get a Quote
PROC Knockout HCT 116 Cell Line EDJ-KQ71189 Human 5624 Details Get a Quote
PROCA1 Knockout HCT 116 Cell Line EDJ-KQ75457 Human 147011 Details Get a Quote
Displaying Records 1 To 12 Of 12 Records

Reference Databases

NCBI Gene https://www.ncbi.nlm.nih.gov/gene/5624
OMIM https://www.omim.org/entry/176860
HGNC https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9451
Ensembl https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000115718
UniProt https://www.uniprot.org/uniprot/P04070
ClinVar https://www.ncbi.nlm.nih.gov/clinvar/?term=PROC%5Bgene%5D
COSMIC https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=PROC
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