Gene Gene information from NCBI Gene database.
Entrez ID 5624
Gene name Protein C, inactivator of coagulation factors Va and VIIIa
Gene symbol PROC
Synonyms (NCBI Gene)
APCPCPROC1THPH3THPH4
Chromosome 2
Chromosome location 2q14.3
Summary 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 f
SNPs SNP information provided by dbSNP.
9
SNP ID Visualize variation Clinical significance Consequence
rs121918148 A>C Pathogenic Coding sequence variant, missense variant
rs121918149 G>A Pathogenic Coding sequence variant, missense variant
rs369504169 G>A Likely-pathogenic Coding sequence variant, missense variant
rs754243426 G>A Likely-pathogenic Splice acceptor variant, intron variant, coding sequence variant, missense variant
rs757583846 C>T Pathogenic, likely-pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
5
miRTarBase ID miRNA Experiments Reference
MIRT1265030 hsa-miR-3682-5p CLIP-seq
MIRT1265031 hsa-miR-3907 CLIP-seq
MIRT1265032 hsa-miR-4797-3p CLIP-seq
MIRT1265033 hsa-miR-552 CLIP-seq
MIRT1265034 hsa-miR-764 CLIP-seq
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
ONECUT1 Activation 9553065
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
35
GO ID Ontology Definition Evidence Reference
GO:0004175 Function Endopeptidase activity IEA
GO:0004252 Function Serine-type endopeptidase activity IBA
GO:0004252 Function Serine-type endopeptidase activity IEA
GO:0004252 Function Serine-type endopeptidase activity IMP 25748729
GO:0004252 Function Serine-type endopeptidase activity TAS 15005336
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
612283 9451 ENSG00000115718
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P04070
Protein name Vitamin K-dependent protein C (EC 3.4.21.69) (Anticoagulant protein C) (Autoprothrombin IIA) (Blood coagulation factor XIV) [Cleaved into: Vitamin K-dependent protein C light chain; Vitamin K-dependent protein C heavy chain; Activation peptide]
Protein function Protein C is a vitamin K-dependent serine protease that regulates blood coagulation by inactivating factors Va and VIIIa in the presence of calcium ions and phospholipids (PubMed:25618265). Exerts a protective effect on the endothelial cell barr
PDB 1AUT , 1LQV , 3F6U , 3JTC , 4DT7 , 6M3B , 6M3C , 8JRU , 8JRV , 9BVM
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00594 Gla 47 87 Vitamin K-dependent carboxylation/gamma-carboxyglutamic (GLA) domain Domain
PF00008 EGF 96 130 EGF-like domain Domain
PF14670 FXa_inhibition 140 175 Domain
PF00089 Trypsin 212 445 Trypsin Domain
Tissue specificity TISSUE SPECIFICITY: Plasma; synthesized in the liver.
Sequence
Sequence length 461
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Complement and coagulation cascades   Intrinsic Pathway of Fibrin Clot Formation
Common Pathway of Fibrin Clot Formation
Gamma-carboxylation of protein precursors
Transport of gamma-carboxylated protein precursors from the endoplasmic reticulum to the Golgi apparatus
Removal of aminoterminal propeptides from gamma-carboxylated proteins
Cell surface interactions at the vascular wall
Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
Post-translational protein phosphorylation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
35
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Abnormal thrombosis Likely pathogenic; Pathogenic rs121918149 RCV000852081
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cerebral palsy Likely pathogenic; Pathogenic rs121918149 RCV001794425
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Deep venous thrombosis Likely pathogenic; Pathogenic rs369504169, rs1553424043, rs1321566264, rs777486993 RCV000851677
RCV000851641
RCV000851918
RCV000852197
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary thrombophilia due to congenital protein C deficiency Likely pathogenic; Pathogenic rs121918146, rs757583846, rs2468379908 RCV003985071
RCV005429227
RCV003595846
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ANTIPHOSPHOLIPID SYNDROME Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ARTERITIS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ASTHMA Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BLOOD COAGULATION DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Abnormal dermatoglyphic pattern Abnormal dermatoglyphic pattern HPO_DG
★☆☆☆☆
Found in Text Mining only
Activated Protein C Resistance Activated Protein C Resistance BEFREE 10070830, 10195932, 10368524, 10678272, 10779003, 10845571, 10871461, 11165549, 11204592, 11246546, 12091344, 12152677, 12353074, 12742330, 12752078
View all (82 more)
★☆☆☆☆
Found in Text Mining only
Activated Protein C Resistance Activated Protein C Resistance LHGDN 14976057, 18768782
★☆☆☆☆
Found in Text Mining only
Acute pancreatitis Pancreatitis BEFREE 19680809
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 10212817, 10674823, 11048797, 11062151, 11078757, 11304579, 11315765, 11338478, 12163385, 12455028, 12584167, 12841866, 12907646, 12966349, 1338691
View all (38 more)
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma LHGDN 12907646, 16407829, 16619216, 17964080
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma CTD_human_DG 15639718, 9111214
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of colon Adenocarcinoma Of Colon BEFREE 9589476
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of colon Adenocarcinoma Of Colon CLINVAR_DG
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of duodenum Adenocarcinoma Of Duodenum CLINVAR_DG
★☆☆☆☆
Found in Text Mining only