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PROC Gene

protein-coding   GIFtS: 66

GC02P128176
protein C (inactivator of coagulation factors Va and VIIIa)
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
"" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""Services    
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
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Aliases & Descriptions
protein C (inactivator of coagulation factors Va and VIIIa)1 2     protein C2
Autoprothrombin IIA2 3     vitamin K-dependent protein C2
Anticoagulant protein C2 3     APC2
Blood coagulation factor XIV2 3     PROC12
PC2 5     EC 3.4.21.693

External Ids:    HGNC: 94511   Entrez Gene: 56242   Ensembl: ENSG000001157187   UniProtKB: P040703   

Search outside databases for aliases for PROC gene

Previous GC identifers: GC02P125475 GC02P126102 GC02P128080 GC02P128269 GC02P127892

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for PROC:
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.

UniProtKB/Swiss-Prot: PROC_HUMAN, P04070
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

Gene Wiki entry for PROC (Protein C)
(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC and Ensembl (release 56), Regulatory elements and Epigenetics data according to SABiosciences)
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Regulatory elements:
"" SABiosciences Regulatory transcription factor binding sites in the PROC gene upstream (promoter) region "":
CREB   Max1   deltaCREB   ATF   C/EBPalpha   Sp1   Bach2   MIF-1   RFX1   NF-E2 p45   

Epigenetics:
"" SABiosciences Methyl-Profiler DNA Methylation qPCR Primer Assays for PROC:  ""
MePH03623-1A   

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2q13-q14   Ensembl cytogenetic band:  2q14.3   HGNC cytogenetic band: 2q13-q14

PROC Gene in genomic location: bands according to Ensembl, locations according to "" (and/or Entrez Gene and/or Ensembl if different)
""

GeneLoc gene densities for chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P128176:  view genomic region     (about GC identifiers)

Start:
128,176,003 bp from pter
End:
128,186,822 bp from pter
Size:
10,820 bases
Orientation:
plus strand
RefSeq DNA sequence:
NC_000002.11  NT_022135.16  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene, Novus Biologicals, and/or Sino Biological,
Biochemical Assays by Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 May 2010 and Entrez Gene, Antibodies by Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abnova, OriGene, Novus Biologicals, and/or Epitomics)
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UniProtKB/Swiss-Prot: PROC_HUMAN, P04070 (See protein sequence)
Recommended Name: Vitamin K-dependent protein C precursor  
Size: 461 amino acids; 52071 Da
Subunit: 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
Sequence caution: Sequence=S76088; Type=Erroneous termination; Positions=151; Note=Translated as Cys;
PDB structures from "" and Proteopedia "" :
1AUT (3D) ""    1LQV (3D) ""    1PCU (3D) ""    2PCT (3D) ""    3F6U (3D) ""    
Secondary accessions: Q15189 Q15190 Q16001 Q53S74 Q9UC55

Post-translational modifications:

  • The vitamin K-dependent, enzymatic carboxylation of some Glu residues allows the modified protein to bind calcium1
  • 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 glycosylated at Asn-371, is beta1
  • The iron and 2-oxoglutarate dependent 3-hydroxylation of aspartate and asparagine is (R) stereospecific within EGF
  • domains1


    REFSEQ proteins: NP_000303.1  

    ENSEMBL proteins: 
    ENSP00000234071 ENSP00000386679 ENSP00000412697 ENSP00000409543 ENSP00000406295 ENSP00000391220 
    ENSP00000392606 ENSP00000402329 ENSP00000411241 ENSP00000384225 ENSP00000404030 


    Human Recombinant Proteins 
    ""Browse Purified and Recombinant Proteins at Millipore
    ""Sigma-Aldrich Proteins for PROC
    ""R&D Systems Recombinant & Natural Proteins for PROC (Coagulation Factor XIV/Protein C)
    ""Browse recombinant and purified proteins available from Enzo Life Sciences
    ""HuPro® and/or Recombinant Proteins from Abnova for PROC ""
    "" Origene Purified Recombinant Human Protein: PROC
    ""Novus Biologicals Proteins for PROC  ""
    Novus Biologicals Lysate for PROC
    ""Browse Sino Biological Recombinant Proteins  ""

    3 Gene Ontology (GO) cellular component terms (GO ID links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576 extracellular region NAS14718574
    GO:0005615 extracellular space ----
    GO:0005886 plasma membrane EXP2538457
    About this table

    "" PROC for ontologies           About GeneDecksing



    Antibodies for PROC: 
    ""Millipore Mono- and Polyclonal Antibodies for the study of PROC
    ""Sigma-Aldrich Antibodies for PROC
    ""R&D Systems Antibodies for PROC (Coagulation Factor XIV/Protein C)
    ""Monoclonal and Polyclonal Antibodies from Abnova (PROC)
    ""Browse Origene Antibodies ""
    ""Novus Biologicals Antibodies for PROC
    ""Browse antibodies at Epitomics

    Assays for PROC: 
    ""Browse Kits and Assays available from Millipore
    ""Browse ELISAs at Sigma-Aldrich
    "" Browse R&D Systems for biochemical assays
    ""Browse Enzo Life Sciences for kits & assays

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

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    "" PROC for domains           About GeneDecksing

    5/13 InterPro domains/families (see all 13 ):
     IPR001314 Peptidase_S1A
     IPR000742 EGF_3
     IPR000152 EGF-type_Asp/Asn_hydroxyl_site
     IPR018097 EGF_Ca_bd_CS
     IPR012224 Pept_S1A_FX

    Graphical View of Domain Structure for InterPro Entry P04070

    ProtoNet protein and cluster: P04070

    5 Blocks protein families:
    IPB000152 Aspartic acid and asparagine hydroxylation site
    IPB000294 Vitamin K-dependent carboxylation/gamma-carboxyglutamic (GLA) domain
    IPB001254 Serine protease
    IPB001314 Chymotrypsin serine protease family (S1) signature
    IPB002383 Coagulation factor GLA domain signature


    UniProtKB/Swiss-Prot: PROC_HUMAN, P04070
    Similarity: Belongs to the peptidase S1 family
    Similarity: Contains 2 EGF-like domains
    Similarity: Contains 1 Gla (gamma-carboxy-glutamate) domain
    Similarity: Contains 1 peptidase S1 domain

    (According to MGI May 08 2010, UniProtKB, IUBMB,and/or Genatlas,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Millipore, Abnova, siRNAs from Applied Biosystems, Sigma-Aldrich, Clones from Millipore, Sigma-Aldrich, OriGene, Sino Biological, Ontologies according to Gene Ontology Consortium 01 May 2010 via Entrez Gene.)
    About This Section

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    Inhib.
    RNA:
    ""Browse for Gene Knock-down Tools from Millipore
    ""Abnova Chimera RNAi Products for Gene knock-down (PROC)
    "" Origene 29mer shRNA kits in GFP-retroviral vector (see all 2): PROC
    Origene shRNA RFP (see all 2): PROC
    Origene basic RS shRNA (see all 2): PROC

    ""Applied Biosystems Silencer® siRNAs for PROC
    ""Sigma-Aldrich siRNA Panels and siRNA for PROC
    Sigma-Aldrich shRNA Panels and shRNA for PROC
    Explore Sigma-Aldrich super-pooled esiRNAs
    Clones:""Browse Clones for the Expression of Recombinant Proteins Available from Millipore
    ""Browse iPSC Reprogramming Factors at Sigma-Aldrich
    "" Origene GFP tagged cDNA clones in CMV expression vector: PROC
    Origene Myc/DDK tagged cDNA clones in CMV expression vector: PROC
    Origene untagged cDNA clones in CMV expression vector (see all 2): PROC
    ""Sino Biological Human cDNA Clone for PROC  ""

    UniProtKB/Swiss-Prot: PROC_HUMAN, P04070
    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
    Catalytic activity: Degradation of blood coagulation factors Va and VIIIa
    Enzyme Number (IUBMB): EC 3.4.21.69 

    Genatlas biochemistry entry for PROC:
    protein C,coagulation factor (FVa and FVIIIa inactivator),vitamin K-dependent

    5 Gene Ontology (GO) molecular function terms (GO ID links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824 catalytic activity ----
    GO:0004252 serine-type endopeptidase activity TAS15005336
    GO:0005509 calcium ion binding IEA--
    GO:0005515 protein binding IPI15248212
    GO:0008233 peptidase activity IEA--
    About this table

    "" PROC for ontologies           About GeneDecksing

    Animal Models: 12 MGI mutant phenotypes (inferred from 1 allele""(MGI details for Proc):

    behavior/neurologicalcardiovascular systemgrowth/sizehematopoietic systemhomeostasis/metabolism
    immune systemlethality-prenatal/perinatallife span-post-weaning/agingliver/biliary systemmuscle
    nervous systemrespiratory system

    "" PROC for phenotypes           About GeneDecksing

    (Pathways according to Millipore, Cell Signaling Technology, Sigma-Aldrich, Applied Biosystems GeneAssist, KEGG and/or UniProtKB, (map by GeneGo),
    Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 May 2010 via Entrez Gene).
    About This Section

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    "" PROC for pathways           About GeneDecksing

    1 "" Millipore Pathway for PROC
      ""  Selected targets of HNF1

    2 "" Sigma-Aldrich "Your Favorite Gene" Pathways for  PROC  (Your Favorite Gene powered by Ingenuity)
      ""  Lysine Degradation
    Coagulation System

    3 "" GeneAssist Pathways for PROC
      ""  Extrinsic Prothrombin Activation Pathway
    Intrinsic Prothrombin Activation Pathway
    Blood Coagulation Cascade

    1 "" Kegg Pathway  (Kegg details for PROC):
      ""  hsa04610 Complement and coagulation cascades

    "" SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PROC

    5/25 Interacting proteins for PROC (ENSP000002340713 P040701) via UniProtKB, MINT, and/or STRING (see all 25 ""
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MMP15P515111EBI-1383018,EBI-1383043
    FURINENSP000002681713STRING: ENSP00000268171
    IGHG1ENSP000003749843STRING: ENSP00000374984
    CDH1ENSP000002687943STRING: ENSP00000268794
    CNGA2ENSP000003284783STRING: ENSP00000328478
    About this table

    4 Gene Ontology (GO) biological process terms (GO ID links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006508 proteolysis NAS12052963
    GO:0007596 blood coagulation ----
    GO:0030195 negative regulation of blood coagulation TAS15005336
    GO:0043066 negative regulation of apoptosis IMP12563316
    About this table

    "" PROC for ontologies           About GeneDecksing


    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

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    "" PROC for compounds           About GeneDecksing

    "" Browse drugs & compounds from Enzo Life Sciences
    ""Browse Small Molecules at Sigma-Aldrich

    "" Browse Tocris compounds for PROC
    10/130 ""Novoseek chemical compound relationships for PROC gene (see all 130 )
    Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    gamma-carboxyglutamic acid 59.29 36 1498334 (6), 8180219 (4), 8505327 (3), 7999756 (3) (see all 20)
    fibrinogen 46.47 78 9175686 (2), 19121184 (2), 17184825 (2), 16446693 (2) (see all 68)
    delta(1)pyrroline-5-carboxylate 6.63 5 10220161 (2), 8479442 (1), 2188947 (1), 19027071 (1)
    fibrinopeptide a 6.52 3 7516205 (2), 7603735 (1)
    vitamin k 6.15 12 8684514 (1), 8329570 (1), 8148479 (1), 8104071 (1) (see all 12)
    procainamide 5.62 8 12804575 (8)
    prinomastat 5.37 3 14515196 (3)
    warfarin 5.32 16 6547348 (2), 3775760 (2), 19958090 (2), 12434119 (2) (see all 12)
    phospholipid 5.25 24 8505327 (4), 1387359 (4), 9078278 (3), 8679535 (3) (see all 11)
    carboxy 4.53 7 15939749 (5), 12853388 (1), 10496930 (1)
    About this table


    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 223 Homo sapiens; Apr 2 2010) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Millipore and/or Abnova,
    siRNAs from Applied Biosystems, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene, microRNA from SABiosciences,
    Tagged/untagged cDNA clones from OriGene, Primers from OriGene and/or SABiosciences,
    Expression Assays from Applied Biosystems)
    About This Section

      User Feedback
    Inhib.
    RNA:
    ""Browse for Gene Knock-down Tools from Millipore
    ""Abnova Chimera RNAi Products for Gene knock-down (PROC)
    ""Applied Biosystems Silencer® siRNAs:  NM_000312  
    "" Origene 29mer shRNA kits in GFP-retroviral vector (see all 2): PROC
    Origene shRNA RFP (see all 2): PROC
    Origene basic RS shRNA (see all 2): PROC

    ""Sigma-Aldrich siRNA Panels and siRNA for PROC
    Sigma-Aldrich shRNA Panels and shRNA for PROC
    Explore Sigma-Aldrich super-pooled esiRNAs

    microRNA:""Search SABiosciences for microRNAs that regulate PROC: ""
    Assays:  ""Applied Biosystems TaqMan® Gene Expression Assays:  
    NM_000312  


    Clones:"" Origene GFP tagged cDNA clones in CMV expression vector: PROC
    Origene Myc/DDK tagged cDNA clones in CMV expression vector: PROC
    Origene untagged cDNA clones in CMV expression vector (see all 2): PROC
    Primers:"" Origene genome-wide validated SYBR primer pairs: PROC
    ""SABiosciences RT2 qPCR Primer Assay for PROC: PPH07139A ""

    REFSEQ mRNAs for PROC gene: 

    NM_000312.3  

    Additional cDNA sequence: 

    AK298280.1 BC034377.1 CR606412.1 K02059.1 S50739.1 S72338.1 X02750.1 

    6 DOTS entries:

    DT.312382  DT.99954045  DT.99960945  DT.100751492  DT.91756785  DT.91756787 

    24/34 AceView cDNA sequences (see all 34 ):

    BC034377 AW052154 CB113383 BM975043 CR606412 BU607676 AI671712 BI764225 
    BV199653 BX107014 CB145461 CB128895 AL531077 R29203 BF237847 CB145040 
    AA745883 BQ646591 BI762861 K02059 AL531076 AV684946 BI252272 X02750 

    "" highest scoring ESTs for PROC:

    AA745883 AI021885 AI349475 AL531076 AV656483 AW052154 BC034377 BF237847 BI252272 BI764225 

    Unigene Cluster for PROC:

    Protein C (inactivator of coagulation factors Va and VIIIa)
    Hs.224698  [show with all ESTs]
    Unigene Representative Sequence: X02750


    GeneLoc Exon Structure

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

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

    About this scheme

    ECgene alternative splicing isoforms for PROC

    13 Ensembl transcripts including schematic representations:
    ENST00000234071  ENST00000409048  ENST00000429925  ENST00000474030  ENST00000422777  ENST00000427769  
    ENST00000431364  ENST00000419985  ENST00000445407  ENST00000442644  ENST00000464089  ENST00000402125  
    ENST00000453608  
    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 223 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Expression Assays from Applied Biosystems, Primers from OriGene and/or SABiosciences )
    About This Section

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    PROC expression in normal and diseased human tissues

    "" Applied Biosystems TaqMan ® Gene Expression Assays for PROC

    1""  / 2""  / 3""

    3 probe-sets matching PROC gene

    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    39255_at2, 3 U95-A 1 1.00 1.00 1.00 1.00 X02750 0.80 1.00 0.91 1
    206259_at2, 3 U133-A 1 1.00 1.00 -- -- NM_000312 0.60 1.00 0.82 1
    206259_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    About this table

    "" PROC for expression           About GeneDecksing

    Data from Genenote  (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: TAACAAGCAC

    SOURCE GeneReport for Unigene cluster: Hs.224698

    Expression variation in blood from EXPOLDB for PROC

    UniProtKB/Swiss-Prot: PROC_HUMAN, P04070
    Tissue specificity: Plasma; synthesized in the liver

    Primers:"" Origene genome-wide validated SYBR primer pairs: PROC ""
    ""SABiosciences RT2 qPCR Primer Assay for PROC: PPH07139A ""
    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI May 08 2010, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section

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    Orthologs for PROC gene from 5/9 species (see all 9 )
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    PROC1   -- protein C (inactivator of coagulation factors Va and more 85.6(n)
    80.48(a)
    476104  NM_001013849.1  NP_001013871.1 
    chimpanzee
    (Pan troglodytes)
    PROC1   -- protein C (inactivator of coagulation factors Va and more 99.64(n)
    99.78(a)
    459593  XM_515775.2  XP_515775.2 
    cow
    (Bos taurus)
    PROC1   -- protein C (inactivator of coagulation factors Va and more 81.91(n)
    73.96(a)
    281428  XM_585990.3  XP_585990.3 
    rat
    (Rattus norvegicus)
    Proc1   -- protein C 77.49(n)
    69.74(a)
    25268  NM_012803.1  NP_036935.1 
    mouse
    (Mus musculus)
    Proc1, 5 185
    protein C1, 5 77.85(n)1
    69.52(a)1
    191231  NM_008934.21  NP_032960.21 
     AF0345695  AF3181825  (see all 20)
    About this table        Species with no ortholog for PROC

    ENSEMBL Gene Tree for PROC
    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
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    Paralogs for PROC gene
    C1S2  PAMR12  PROZ2  C1R2  C1RL2  F92  MASP12  F102  
    F22  HPR2  F72  HP2  MASP22  

    "" PROC for paralogs           About GeneDecksing


    (SNPs according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Genotyping Reagents from Applied Biosystems)
    About This Section

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    10/73 NCBI SNPs in PROC are shown (see all 73 )
    (Click "" for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 86)
    ABGenomic DataTranscription Related DataAllele Frequencies
    SNP IDValidChr 2 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ------------
    ""
    rs20699011,2
    C,F,A,H120481907(+) CTCTCT/CAGGTG 1 -- ng51""5Minor allele frequency- C:0.38NS NA EA WA 302""
    ""
    rs17998101,2
    C,F,A,H120483104(+) CGGCGA/TACTTG 1 -- ut51""14Minor allele frequency- T:0.21NS EA NA WA 2560""
    ""
    rs17998081,2
    C,F,A120482926(+) CTGGAT/CGGCAT 1 -- ng51""15Minor allele frequency- C:0.46NS EA NA 2464""
    ""
    rs20699351,2
    C,F,H120481697(+) TAGGAG/AGGCCT 1 -- ng51 tfbs3""6Minor allele frequency- A:0.01NS EA NA 458""
    ""
    rs17998091,2
    C,F,A120482939(+) TTGGTA/GGGCAG 1 -- ng51""11Minor allele frequency- G:0.41NS EA NA 680""
    ""
    rs20698941,2
    C,F,H120481118(+) GGCGAG/AAAGTT 1 -- ng51""7Minor allele frequency- A:0.01NS EA 676""
    --
    rs20699021,2
    C,F,H120481927(+) TCAGCC/GCCCCT 1 -- ng51""4Minor allele frequency- G:0.38NS NA WA 214""
    ""
    rs26794061,2
    C,H120494155(+) ATTAGC/TTCTGT 1 -- ng31""4Minor allele frequency- T:0.00NA 8""
    ""
    rs20698951,2
    C,F120481132(+) GGGGAA/GGGGAA 1 -- ng51 trp3""4Minor allele frequency- G:0.39NS NA WA 214""
    ""
    rs20699001,2
    C,F120481840(+) GCACCC/TGAAGC 1 -- ng51""7Minor allele frequency- T:0.01NS EA WA 548""
    About this table

    HapMap Linkage Disequilibrium images for PROC (up to first 250kb)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)  ""
          Database of Genomic Variants (DGV) variations for PROC: --

    (in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, LSDB, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
    About This Section

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    "" PROC for disorders           About GeneDecksing

    OMIM: 612283   disorders: 176860  612304  

    UniProtKB/Swiss-Prot: PROC_HUMAN, P04070

  • Defects in PROC are the cause of protein C deficiency autosomal dominant (ADPROCD) [MIM:176860]. ADPROCD is a
  • cause of hereditary thrombophilia, a hemostatic disorder characterized by impaired regulation of blood coagulation and
    a tendency to recurrent venous thrombosis. However, many adults with heterozygous disease may be asymptomatic.
    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
  • Defects in PROC are the cause of protein C deficiency autosomal recessive (ARPROCD) [MIM:612304]. ARPROCD
  • 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

    10/235 ""Novoseek disease relationships for PROC gene (see all 235 )

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    pc deficiency 100.00 58 11336597 (6), 11302483 (4), 8704244 (3), 9052918 (2) (see all 40)
    protein c deficiencies 100.00 63 10942114 (4), 8972002 (3), 9788727 (2), 8607097 (2) (see all 53)
    disease; lyme 60.87 56 8039891 (4), 16299277 (3), 12853388 (3), 10967255 (3) (see all 35)
    activated protein c resistance 39.82 24 14587054 (6), 10195932 (5), 16547717 (3), 17135722 (2) (see all 10)
    thrombophilia 33.62 34 17804900 (4), 15199492 (2), 9241707 (1), 9241706 (1) (see all 30)
    fulminans; purpura 33.24 19 7841324 (2), 7841323 (2), 12761614 (2), 11336597 (2) (see all 15)
    thrombosis venous 27.68 51 11302483 (4), 19535131 (3), 14567090 (3), 8400292 (2) (see all 38)
    spirochete diseases 22.28 15 16299277 (2), 11230121 (2), 8200524 (1), 18479884 (1) (see all 13)
    neonatal purpura 21.63 8 7841323 (2), 8607097 (1), 8115990 (1), 7841324 (1) (see all 7)
    lupus anticoagulant 20.90 22 14587054 (5), 8735139 (2), 19565645 (2), 19029633 (2) (see all 13)
    About this table

    Genatlas disease: PROC
    thrombosis,recurrent (pro-C type I and type II deficiency)

    Human Gene Mutation Database: PROC
    Genetic Association Database: PROC
    Human Genome Epidemiology Navigator: PROC (42 documents)

    (Possibly Related Articles in Doctor's Guide)
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    (in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
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    10/538 PubMed articles for PROC gene (see all 538 ):
    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)
    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 5624 HGNC: 9451 AceView: PROC Ensembl:ENSG00000115718 euGenes: HUgn5624
    ECgene: PROC Kegg: 5624 H-InvDB: PROC
    (According to HUGE)
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      --
    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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    NameDescription
    Mammary Transgene Database entry for PROCMore genetic and clinical information
    Wikipedia http://en.wikipedia.org/wiki/Protein_C
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PROC
    SeattleSNPshttp://pga.gs.washington.edu/data/proc/
    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from XenneX, Inc.)
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    Patent Information for PROC gene: ""
    Search GeneIP for patents involving PROC

    GeneCards and IP: ""
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search


    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Novus Biologicals,
    Epitomics, Sigma-Aldrich, R&D Systems, SABiosciences, Millipore, Abnova,
    Clones available from OriGene, Sigma-Aldrich, Sino Biological, Drugs and/or compounds by Sigma-Aldrich, Enzo Life Sciences, and/or Tocris Bioscience)
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    ""
    ""
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