PROC (protein C, inactivator of coagulation factors Va and VIIIa)

Gene
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5624
Gene name Gene Name - the full gene name approved by the HGNC.
Protein C, inactivator of coagulation factors Va and VIIIa
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PROC
Synonyms (NCBI Gene) Gene synonyms aliases
APC, PC, PROC1, THPH3, THPH4
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2q14.3
Summary Summary of gene provided in NCBI Entrez Gene.
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.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(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.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(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
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
Transcription factor Regulation Reference
ONECUT1 Activation 9553065
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
612283 9451 ENSG00000115718
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (3)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Thrombophilia thrombophilia due to protein c deficiency, autosomal recessive, Thrombophilia due to protein C deficiency, autosomal dominant rs1456533664, rs121918153, rs757583846, rs1305782685, rs121918145, rs121918154, rs1333329860, rs1247269491, rs121918146, rs1558715857, rs1553424043, rs777486993, rs121918155, rs374476971, rs201907715
View all (27 more)		 N/A
Cerebral palsy cerebral palsy rs121918149 N/A
Hereditary Thrombophilia Hereditary thrombophilia due to congenital protein C deficiency rs121918146 N/A
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Angioedema Hereditary angioedema with normal C1Inh N/A N/A ClinVar
Show/Hide Text Mining Associations (117)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
18 Hydroxylase deficiency Associate 15114590, 25651845, 31490209, 33761690
Abruptio Placentae Associate 20334530
Activated Protein C Resistance Associate 21564075, 25196808
Anemia Sickle Cell Associate 11972526, 22052675, 9332318
Aneurysm Associate 35627118
Antiphospholipid Syndrome Associate 25196808
Antiphospholipid Syndrome Inhibit 7814631
Antithrombin deficiency type 2 Associate 24162787
Antithrombin III Deficiency Inhibit 11292195
Antithrombin III Deficiency Associate 22443383, 30637129, 30975910