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 defic... See more...

Aliases for PROC Gene

Aliases for PROC Gene

  • Protein C, Inactivator Of Coagulation Factors Va And VIIIa 2 3 5
  • Vitamin K-Dependent Protein C 3 4
  • Blood Coagulation Factor XIV 3 4
  • Anticoagulant Protein C 3 4
  • Autoprothrombin IIA 3 4
  • Prepro-Protein C 2 3
  • EC 3.4.21.69 4 52
  • Protein C (Inactivator Of Coagulation Factors Va And VIIIa) 2
  • Activated Protein C 3
  • Protein C-Nagoya 3
  • Type I Protein C 3
  • EC 3.4.21 52
  • PROC1 3
  • THPH3 3
  • THPH4 3
  • APC 3
  • PC 3

External Ids for PROC Gene

Previous GeneCards Identifiers for PROC Gene

  • GC02P125475
  • GC02P126102
  • GC02P128080
  • GC02P128269
  • GC02P127892
  • GC02P128176
  • GC02P120483

Summaries for PROC Gene

Entrez Gene Summary for PROC 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 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]

GeneCards Summary for PROC Gene

PROC (Protein C, Inactivator Of Coagulation Factors Va And VIIIa) is a Protein Coding gene. Diseases associated with PROC include Thrombophilia Due To Protein C Deficiency, Autosomal Recessive and Thrombophilia Due To Protein C Deficiency, Autosomal Dominant. Among its related pathways are Metabolism of proteins and Cell surface interactions at the vascular wall. Gene Ontology (GO) annotations related to this gene include calcium ion binding and peptidase activity. An important paralog of this gene is PROZ.

UniProtKB/Swiss-Prot Summary for PROC Gene

  • 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 barrier function (PubMed:25651845).

Gene Wiki entry for PROC Gene

Additional gene information for PROC Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PROC Gene

Genomics for PROC Gene

GeneHancer (GH) Regulatory Elements for PROC Gene

Promoters and enhancers for PROC Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J127418 Promoter 1.4 EPDnew Ensembl 500.7 -0.4 -383 0.8 POLR2G KDM6A ZBTB25 TGIF2 ZBTB7A SKI TEAD1 U2AF2 TBX3 ZKSCAN8 HSALNG0018621 PROC lnc-IWS1-1 ERCC3 MAP3K2
GH02J127419 Promoter 0.9 EPDnew 500.7 +1.3 1273 0.1 ZBTB26 PCBP1 SRSF1 KAT7 PBX2 MIER3 CREM DRAP1 PKNOX1 EBF1 HSALNG0018621 PROC
GH02J127453 Enhancer 1.1 Ensembl ENCODE 12.3 +37.0 36958 4.1 EP300 FOXK2 ZNF217 CTCF TCF12 POLR2G NCOR1 TEAD4 KDM6A TCF7 ENSG00000231731 MAP3K2-DT ERCC3 PROC LIMS2 MAP3K2 LOC105373608 lnc-MAP3K2-2 HSALNG0018622 IWS1
GH02J127893 Enhancer 0.6 FANTOM5 Ensembl 22.4 +475.0 475012 0.8 USF1 RXRA REST SP1 PROC LIMS2 AMMECR1L ENSG00000286873 RF00017-3308
GH02J127348 Enhancer 0.8 Ensembl dbSUPER 12 -69.7 -69704 8.2 ZNF10 OSR2 NCOR1 FOXA2 TRIM24 YBX1 TAL1 TCF12 ATF4 MEIS2 MAP3K2-DT ERCC3 MAP3K2 PROC ENSG00000231731 RNU4-48P LIMS2 piR-36393-296 RF00026-571 RNU6-1147P
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PROC on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PROC

Top Transcription factor binding sites by QIAGEN in the PROC gene promoter:
  • ATF
  • c-Myc
  • C/EBPalpha
  • CREB
  • deltaCREB
  • Max
  • Max1
  • Sp1

Genomic Locations for PROC Gene

Genomic Locations for PROC Gene
chr2:127,418,405-127,429,246
(GRCh38/hg38)
Size:
10,842 bases
Orientation:
Plus strand
chr2:128,175,996-128,186,822
(GRCh37/hg19)
Size:
10,827 bases
Orientation:
Plus strand

Genomic View for PROC Gene

Genes around PROC on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PROC Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PROC Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PROC Gene

Proteins for PROC Gene

  • Protein details for PROC Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P04070-PROC_HUMAN
    Recommended name:
    Vitamin K-dependent protein C
    Protein Accession:
    P04070
    Secondary Accessions:
    • B4DPQ7
    • Q15189
    • Q15190
    • Q16001
    • Q53S74
    • Q9UC55

    Protein attributes for PROC Gene

    Size:
    461 amino acids
    Molecular mass:
    52071 Da
    Quaternary structure:
    • Synthesized as a single chain precursor, which is cleaved into a light chain and a heavy chain held together by a disulfide bond. The enzyme is then activated by thrombin, which cleaves a tetradecapeptide from the amino end of the heavy chain; this reaction, which occurs at the surface of endothelial cells, is strongly promoted by thrombomodulin.
    Miscellaneous:
    • Calcium also binds, with stronger affinity to another site, beyond the GLA domain. This GLA-independent binding site is necessary for the recognition of the thrombin-thrombomodulin complex.
    SequenceCaution:
    • Sequence=S76088; Type=Erroneous termination; Note=Truncated C-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for PROC Gene

    Alternative splice isoforms for PROC Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PROC Gene

Selected DME Specific Peptides for PROC Gene

P04070:
  • LLDSKKKL
  • RANSFLEE
  • DNDIALL
  • YTKVSRY
  • SENMLCAGI
  • VLTAAHC
  • VRLGEYDLRR
  • SQTIVPICLPDSGL
  • WVLTAAH
  • ERECIEE
  • GWEGRFC
  • DACEGDSGGP
  • DACEGDSGGPMV
  • GDSGGPMV

Post-translational modifications for PROC Gene

  • The vitamin K-dependent, enzymatic carboxylation of some Glu residues allows the modified protein to bind calcium.
  • N- and O-glycosylated. Partial (70%) N-glycosylation of Asn-371 with an atypical N-X-C site produces a higher molecular weight form referred to as alpha. The lower molecular weight form, not N-glycosylated at Asn-371, is beta. O-glycosylated with core 1 or possibly core 8 glycans.
  • The iron and 2-oxoglutarate dependent 3-hydroxylation of aspartate and asparagine is (R) stereospecific within EGF domains.
  • May be phosphorylated on a Ser or Thr in a region (AA 25-30) of the propeptide.
  • Glycosylation at Thr19, Asn139, Asn290, Asn355, and Asn371
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • PROC_HUMAN (620)

Antibody Products

Domains & Families for PROC Gene

Gene Families for PROC Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Candidate cardiovascular disease genes
  • Disease related genes
  • Enzymes
  • FDA approved drug targets
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for PROC Gene

Blocks:
  • Serine protease, trypsin family
  • Chymotrypsin serine protease family (S1) signature
  • Aspartic acid and asparagine hydroxylation site
  • Vitamin K-dependent carboxylation/gamma-carboxyglutamic (GLA) domain
  • Coagulation factor GLA domain signature
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PROC Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ51925, highly similar to Vitamin K-dependent protein C (EC 3.4.21.69) (B4DPQ7_HUMAN)
  • Blood coagulation factor XIV (PROC_HUMAN)
  • Protein C (Q8IXB4_HUMAN)
  • Protein C (Q8IXB5_HUMAN)
  • Protein C (Q8IXB6_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P04070

UniProtKB/Swiss-Prot:

PROC_HUMAN :
  • Belongs to the peptidase S1 family.
Family:
  • Belongs to the peptidase S1 family.
genes like me logo Genes that share domains with PROC: view

Function for PROC Gene

Molecular function for PROC Gene

UniProtKB/Swiss-Prot 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 barrier function (PubMed:25651845).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=Degradation of blood coagulation factors Va and VIIIa.; EC=3.4.21.69;.
GENATLAS Biochemistry:
protein C,coagulation factor (FVa and FVIIIa inactivator),vitamin K-dependent

Enzyme Numbers (IUBMB) for PROC Gene

Phenotypes From GWAS Catalog for PROC Gene

Gene Ontology (GO) - Molecular Function for PROC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004252 serine-type endopeptidase activity TAS 15005336
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IPI 15248212
GO:0008233 peptidase activity IEA --
GO:0008236 serine-type peptidase activity IEA --
genes like me logo Genes that share ontologies with PROC: view
genes like me logo Genes that share phenotypes with PROC: view

Human Phenotype Ontology for PROC Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PROC Gene

MGI Knock Outs for PROC:

Animal Model Products

CRISPR Products

Clone Products

No data available for Transcription Factor Targets and HOMER Transcription for PROC Gene

Localization for PROC Gene

Subcellular locations from UniProtKB/Swiss-Prot for PROC Gene

Secreted. Golgi apparatus. Endoplasmic reticulum.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PROC gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 5
golgi apparatus 5
nucleus 3
cytosol 3
plasma membrane 2
cytoskeleton 2
mitochondrion 2
peroxisome 1
endosome 1
lysosome 1

Gene Ontology (GO) - Cellular Components for PROC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA,TAS --
GO:0005615 extracellular space IBA 21873635
GO:0005783 endoplasmic reticulum IDA,IEA 25748729
GO:0005788 endoplasmic reticulum lumen TAS --
GO:0005794 Golgi apparatus IEA,IDA 25748729
genes like me logo Genes that share ontologies with PROC: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for PROC Gene

Pathways & Interactions for PROC Gene

genes like me logo Genes that share pathways with PROC: view

Pathways by source for PROC Gene

1 KEGG pathway for PROC Gene
1 R&D Systems pathway for PROC Gene
3 Qiagen pathways for PROC Gene
  • Blood Coagulation Cascade
  • Extrinsic Prothrombin Activation Pathway
  • Intrinsic Prothrombin Activation Pathway

Gene Ontology (GO) - Biological Process for PROC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis NAS,IEA 12052963
GO:0006888 ER to Golgi vesicle-mediated transport TAS --
GO:0007596 blood coagulation TAS,IEA --
GO:0007599 hemostasis IEA --
GO:0030195 negative regulation of blood coagulation TAS,IBA 15005336
genes like me logo Genes that share ontologies with PROC: view

No data available for SIGNOR curated interactions for PROC Gene

Drugs & Compounds for PROC Gene

(25) Drugs for PROC Gene - From: DrugBank, PharmGKB, ClinicalTrials, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Sodium Tetradecyl Sulfate Approved, Investigational Pharma Target, inhibitor 10
Menadione Approved Nutra Target, activator, inhibitor 306
Warfarin Approved Pharma 593
Calcium Approved Nutra 7884
Antihemophilic factor human Approved Pharma Enzyme, substrate 0

(4) Additional Compounds for PROC Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with PROC: view

Transcripts for PROC Gene

mRNA/cDNA for PROC Gene

12 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PROC Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9a · 9b
SP1: - - -
SP2:
SP3:
SP4: - - -

Relevant External Links for PROC Gene

GeneLoc Exon Structure for
PROC

Expression for PROC Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PROC Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PROC Gene

This gene is overexpressed in Liver (x48.6).

Protein differential expression in normal tissues from HIPED for PROC Gene

This gene is overexpressed in Serum (42.3) and Plasma (12.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for PROC Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PROC

SOURCE GeneReport for Unigene cluster for PROC Gene:

Hs.224698

mRNA Expression by UniProt/SwissProt for PROC Gene:

P04070-PROC_HUMAN
Tissue specificity: Plasma; synthesized in the liver.

Evidence on tissue expression from TISSUES for PROC Gene

  • Liver(4.6)
  • Blood(4.4)
  • Intestine(4.3)
  • Bone marrow(4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PROC Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • immune
  • integumentary
  • nervous
  • respiratory
Regions:
Head and neck:
  • brain
  • ear
  • eye
  • head
Thorax:
  • heart
  • lung
General:
  • blood
  • blood vessel
  • coagulation system
  • skin
genes like me logo Genes that share expression patterns with PROC: view

No data available for Protein tissue co-expression partners for PROC Gene

Orthologs for PROC Gene

This gene was present in the common ancestor of animals.

Orthologs for PROC Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PROC 31 30
  • 99.64 (n)
OneToOne
dog
(Canis familiaris)
Mammalia LOC476104 30
  • 85.6 (n)
PROC 31
  • 71 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PROC 31 30
  • 81.91 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Proc 17 31 30
  • 78.1 (n)
rat
(Rattus norvegicus)
Mammalia Proc 30
  • 77.49 (n)
oppossum
(Monodelphis domestica)
Mammalia PROC 31
  • 58 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PROC 31
  • 46 (a)
OneToOne
chicken
(Gallus gallus)
Aves PROC 31 30
  • 61.9 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PROC 31
  • 52 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia proc 30
  • 58.99 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.24334 30
zebrafish
(Danio rerio)
Actinopterygii proca 31 30
  • 54.58 (n)
OneToMany
PROC (2 of 2) 31
  • 47 (a)
OneToMany
zgc63987 30
fruit fly
(Drosophila melanogaster)
Insecta CG4998 32
  • 35 (a)
Tequila 32
  • 34 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 16 (a)
OneToMany
Species where no ortholog for PROC was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PROC Gene

ENSEMBL:
Gene Tree for PROC (if available)
TreeFam:
Gene Tree for PROC (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PROC: view image

Paralogs for PROC Gene

Paralogs for PROC Gene

(101) SIMAP similar genes for PROC Gene using alignment to 17 proteins:

  • PROC_HUMAN
  • B4DPQ7_HUMAN
  • E7END6_HUMAN
  • E7ENR9_HUMAN
  • E7EU72_HUMAN
  • E7EVH6_HUMAN
  • F2Z2A0_HUMAN
  • H7BYX9_HUMAN
  • I7BL31_HUMAN
  • Q8J002_HUMAN
  • Q8J003_HUMAN
  • Q8J004_HUMAN
  • Q8J005_HUMAN
  • Q8J006_HUMAN
  • Q8J007_HUMAN
  • Q8J008_HUMAN
  • Q8J009_HUMAN
genes like me logo Genes that share paralogs with PROC: view

Variants for PROC Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PROC Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
626988 Likely Pathogenic: Reduced protein C activity 127,428,891(+) G/A NONSENSE
626994 Likely Pathogenic: Reduced protein C activity 127,428,927(+) AG/A FRAMESHIFT_VARIANT
626997 Likely Pathogenic: Reduced protein C activity 127,428,937(+) G/GGC FRAMESHIFT_VARIANT
627040 Likely Pathogenic: Thromboembolism 127,422,915(+) A/G SPLICE_ACCEPTOR_VARIANT
627072 Likely Pathogenic: Reduced protein C activity 127,423,313(+) G/A MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for PROC Gene

Structural Variations from Database of Genomic Variants (DGV) for PROC Gene

Variant ID Type Subtype PubMed ID
nsv583036 CNV gain 21841781

Variation tolerance for PROC Gene

Residual Variation Intolerance Score: 12.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.91; 35.54% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PROC Gene

Human Gene Mutation Database (HGMD)
PROC
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PROC

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PROC Gene

Disorders for PROC Gene

MalaCards: The human disease database

(39) MalaCards diseases for PROC Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
thrombophilia due to protein c deficiency, autosomal recessive
  • thph4
thrombophilia due to protein c deficiency, autosomal dominant
  • thph3
protein c deficiency
  • autosomal recessive thrombophilia due to congenital protein c deficiency
purpura fulminans
  • purpura gangrenosa
thrombophilia
  • hypercoagulability state
- elite association - COSMIC cancer census association via MalaCards
Search PROC in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PROC_HUMAN
  • Thrombophilia due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860]: A hemostatic disorder characterized by impaired regulation of blood coagulation and a tendency to recurrent venous thrombosis. Individuals with decreased amounts of protein C are classically referred to as having type I protein C deficiency and those with normal amounts of a functionally defective protein as having type II deficiency. {ECO:0000269 PubMed:1301959, ECO:0000269 PubMed:1347706, ECO:0000269 PubMed:1511989, ECO:0000269 PubMed:1868249, ECO:0000269 PubMed:2437584, ECO:0000269 PubMed:25618265, ECO:0000269 PubMed:25748729, ECO:0000269 PubMed:2602169, ECO:0000269 PubMed:7792728, ECO:0000269 PubMed:7865674, ECO:0000269 PubMed:8292730, ECO:0000269 PubMed:8398832, ECO:0000269 PubMed:8499568, ECO:0000269 PubMed:8560401, ECO:0000269 PubMed:8829639, ECO:0000269 PubMed:9798967}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Thrombophilia due to protein C deficiency, autosomal recessive (THPH4) [MIM:612304]: A hemostatic disorder characterized by impaired regulation of blood coagulation and a tendency to recurrent venous thrombosis. It results in a thrombotic condition that can manifest as a severe neonatal disorder or as a milder disorder with late-onset thrombophilia. The severe form leads to neonatal death through massive neonatal venous thrombosis. Often associated with ecchymotic skin lesions which can turn necrotic called purpura fulminans, this disorder is very rare. {ECO:0000269 PubMed:1511988, ECO:0000269 PubMed:1593215, ECO:0000269 PubMed:1611081, ECO:0000269 PubMed:25618265, ECO:0000269 PubMed:7841323, ECO:0000269 PubMed:7841324, ECO:0000269 PubMed:7878626}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for PROC Gene

thrombosis,recurrent (pro-C type I and type II deficiency)

Additional Disease Information for PROC

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with PROC: view

Publications for PROC Gene

  1. Genetic determinants of warfarin dosing in the Han-Chinese population. (PMID: 19958090) Lee MT … Chen YT (Pharmacogenomics 2009) 3 23 41 54
  2. Prevalence of genetic mutations in protein S, protein C and antithrombin genes in Japanese patients with deep vein thrombosis. (PMID: 18954896) Miyata T … Ikeda Y (Thrombosis research 2009) 3 23 41 54
  3. PROC, PROCR and PROS1 polymorphisms, plasma anticoagulant phenotypes, and risk of cardiovascular disease and mortality in older adults: the Cardiovascular Health Study. (PMID: 18680534) Reiner AP … Lange LA (Journal of thrombosis and haemostasis : JTH 2008) 3 23 41 54
  4. Association of warfarin dose with genes involved in its action and metabolism. (PMID: 17048007) Wadelius M … Deloukas P (Human genetics 2007) 3 23 41 54
  5. R147W mutation of PROC gene is common in venous thrombotic patients in Taiwanese Chinese. (PMID: 15114590) Tsay W … Shen MC (American journal of hematology 2004) 3 23 41 54

Products for PROC Gene

Sources for PROC Gene