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CPB2 Gene

protein-coding   GIFtS: 67
GCID: GC13M046627

Carboxypeptidase B2 (Plasma)

(Previous names: carboxypeptidase B2 (plasma, carboxypeptidase U))
Pneumococci & Pneumococcal Diseases Congress
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Carboxypeptidase B2 (Plasma)1 2     Thrombin-Activable Fibrinolysis Inhibitor2 3
CPU2 3 5     EC 3.4.17.203 8
TAFI2 3 5     PCPB2
Carboxypeptidase B2 (Plasma, Carboxypeptidase U)1 2     Carboxypeptidase B-Like Protein2
Carboxypeptidase U1 3     Carboxypeptidase B22
Plasma Carboxypeptidase B1 3     pCPB3
Carboxypeptidase R1 2     EC 3.4.178
Thrombin-Activatable Fibrinolysis Inhibitor1 2     

External Ids:    HGNC: 23001   Entrez Gene: 13612   Ensembl: ENSG000000806187   OMIM: 6031015   UniProtKB: Q96IY43   

Export aliases for CPB2 gene to outside databases

Previous GC identifers: GC13M044627 GC13M040614 GC13M045563 GC13M044425 GC13M045525 GC13M027424


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for CPB2 Gene:
Carboxypeptidases are enzymes that hydrolyze C-terminal peptide bonds. The carboxypeptidase family includes
metallo-, serine, and cysteine carboxypeptidases. According to their substrate specificity, these enzymes are
referred to as carboxypeptidase A (cleaving aliphatic residues) or carboxypeptidase B (cleaving basic amino
residues). The protein encoded by this gene is activated by trypsin and acts on carboxypeptidase B substrates.
After thrombin activation, the mature protein downregulates fibrinolysis. Polymorphisms have been described for
this gene and its promoter region. Alternate splicing results in multiple transcript variants. (provided by
RefSeq, Jun 2013)

GeneCards Summary for CPB2 Gene:
CPB2 (carboxypeptidase B2 (plasma)) is a protein-coding gene. Diseases associated with CPB2 include meningococcal infection, and hemophilia. GO annotations related to this gene include metallocarboxypeptidase activity. An important paralog of this gene is CPO.

UniProtKB/Swiss-Prot: CBPB2_HUMAN, Q96IY4
Function: Cleaves C-terminal arginine or lysine residues from biologically active peptides such as kinins or
anaphylatoxins in the circulation thereby regulating their activities. Down-regulates fibrinolysis by removing
C-terminal lysine residues from fibrin that has already been partially degraded by plasmin

Gene Wiki entry for CPB2 (Carboxypeptidase B2) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000013.11  NT_024524.15  NC_018924.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the CPB2 gene promoter:
         Sox5   Pbx1a   FOXD1   LUN-1   HNF-1A   C/EBPalpha   AREB6   Sox9   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCPB2 promoter sequence
   Search Chromatin IP Primers for CPB2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CPB2


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

Entrez Gene cytogenetic band: 13q14.11   Ensembl cytogenetic band:  13q14.13   HGNC cytogenetic band: 13q14.11

CPB2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CPB2 gene location

GeneLoc information about chromosome 13         GeneLoc Exon Structure

GeneLoc location for GC13M046627:  view genomic region     (about GC identifiers)

Start:
46,627,321 bp from pter      End:
46,679,211 bp from pter
Size:
51,891 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: CBPB2_HUMAN, Q96IY4 (See protein sequence)
Recommended Name: Carboxypeptidase B2 precursor  
Size: 423 amino acids; 48424 Da
Cofactor: Binds 1 zinc ion per subunit
4 PDB 3D structures from and Proteopedia for CPB2:
3D66 (3D)        3D67 (3D)        3D68 (3D)        3LMS (3D)    
Secondary accessions: A8K464 Q15114 Q5T9K1 Q5T9K2 Q9P2Y6
Alternative splicing: 2 isoforms:  Q96IY4-1   Q96IY4-2   

Explore the universe of human proteins at neXtProt for CPB2: NX_Q96IY4

Explore proteomics data for CPB2 at MOPED

Post-translational modifications: 

  • N-glycosylated. N-glycan at Asn-108: Hex5HexNAc41
  • Glycosylation2 at Asn44, Asn73, Asn85, Asn108, Asn241
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for CPB2 (Q96IY4) (see all 9)
     PESEPEV  GIKYSFT  HAREWIS  GIHAREW 


    See CPB2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001265470.1  NP_001863.3  

    ENSEMBL proteins: 
     ENSP00000181383   ENSP00000400714  
    Reactome Protein details: Q96IY4

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    IUPHAR Guide to PHARMACOLOGY protein family classification: Carboxypeptidase B2 (plasma)
    Metallocarboxypeptidases

    3 InterPro protein domains:
     IPR003146 Prot_inh_M14A
     IPR000834 Peptidase_M14
     IPR009020 Prot_inh_propept

    Graphical View of Domain Structure for InterPro Entry Q96IY4

    ProtoNet protein and cluster: Q96IY4

    2 Blocks protein domains:
    IPB000834 Zinc carboxypeptidase A metalloprotease (M14)
    IPB003146 Carboxypeptidase activation peptide


    UniProtKB/Swiss-Prot: CBPB2_HUMAN, Q96IY4
    Similarity: Belongs to the peptidase M14 family


    CPB2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CBPB2_HUMAN, Q96IY4
    Function: Cleaves C-terminal arginine or lysine residues from biologically active peptides such as kinins or
    anaphylatoxins in the circulation thereby regulating their activities. Down-regulates fibrinolysis by removing
    C-terminal lysine residues from fibrin that has already been partially degraded by plasmin
    Catalytic activity: Release of C-terminal Arg and Lys from a polypeptide
    Enzyme regulation: TAFI/CPB2 is unique among carboxypeptidases in that it spontaneously inactivates with a short
    half-life, a property that is crucial for its role in controlling blood clot lysis. The zymogen is stabilized by
    interactions with the activation peptide. Release of the activation peptide increases a dynamic flap mobility and
    in time this leads to conformational changes that disrupt the catalytic site and expose a cryptic
    thrombin-cleavage site present at Arg-324

         Genatlas biochemistry entry for CPB2:
    carboxypeptidase B2,plasma,regulator of plasminogen activation

         Enzyme Numbers (IUBMB): EC 3.4.17.201 2 EC 3.4.172

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004180carboxypeptidase activity ----
    GO:0004181metallocarboxypeptidase activity IEA--
    GO:0008270zinc ion binding IEA--
         
    CPB2 for ontologies           About GeneDecksing


    Phenotypes:
         7 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Cpb2):
     growth/size/body  homeostasis/metabolism  immune system  mortality/aging  renal/urinary system 
     respiratory system  tumorigenesis 

    CPB2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for CPB2: Cpb2tm1Mng Cpb2tm1Efp Cpb2tm1Nok Cpb2tm1Jcmm

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CPB2
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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CPB2

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    miRTarBase miRNAs that target CPB2:
    hsa-mir-26b-5p (MIRT029527)

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    2 qRT-PCR Assays for microRNAs that regulate CPB2:
    hsa-miR-1323 hsa-miR-548o
    SwitchGear 3'UTR luciferase reporter plasmidCPB2 3' UTR sequence
    Inhib. RNA
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    Sino Biological Human cDNA Clone for CPB2
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CPB2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CPB2

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CPB2


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    CBPB2_HUMAN, Q96IY4: Secreted
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    endoplasmic reticulum2
    cytosol1
    lysosome1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005615extracellular space IEA--

    CPB2 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for CPB2 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Complement and coagulation cascades
    Complement and coagulation cascades0.71
    Complement and Coagulation Cascades0.71
    2Peptide hormone metabolism
    Peptide hormone metabolism0.30
    Metabolism of Angiotensinogen to Angiotensins0.00
    3Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
    Metabolism of proteins0.30
    4Protein digestion and absorption
    Protein digestion and absorption
    5Pancreatic secretion
    Pancreatic secretion

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for CPB2
        Complement and Coagulation Cascades


    1 Reactome Pathway for CPB2
        Metabolism of Angiotensinogen to Angiotensins


    3 Kegg Pathways  (Kegg details for CPB2):
        Complement and coagulation cascades
    Pancreatic secretion
    Protein digestion and absorption


    CPB2 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for CPB2
    Interactions:

        GeneGlobe Interaction Network for CPB2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 13)

    Selected Interacting proteins for CPB2 (Q96IY43 ENSP000001813834) via UniProtKB, MINT, STRING, and/or I2D (see all 13)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    F2P007343, ENSP000003085414I2D: score=2 STRING: ENSP00000308541
    A2MP010233, ENSP000003239294I2D: score=1 STRING: ENSP00000323929
    C5P010313, ENSP000002236424I2D: score=1 STRING: ENSP00000223642
    PLGP007473, ENSP000003089384I2D: score=2 STRING: ENSP00000308938
    UBCP0CG483, ENSP000003448184I2D: score=1 STRING: ENSP00000344818
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003331positive regulation of extracellular matrix constituent secretion IEA--
    GO:0006508proteolysis TAS10651877
    GO:0007596blood coagulation IEA--
    GO:0009408response to heat IEA--
    GO:0010757negative regulation of plasminogen activation IEA--

    CPB2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for CPB2 (CBPB2)

    1 HMDB Compound for CPB2    About this table
    CompoundSynonyms CAS #PubMed Ids
    ZincZinc (see all 2)7440-66-6--

    10 Novoseek inferred chemical compound relationships for CPB2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hippuryl-l-arginine 93.5 4 10351989 (1), 2328266 (1), 15802136 (1)
    hippuryl-l-lysine 91.4 1 2328266 (1)
    lysine 45.2 8 11292199 (2), 10351989 (1), 10686274 (1), 10759708 (1) (see all 6)
    fibrinogen 18.8 2 15691280 (1), 14697944 (1)
    arginine 18.1 6 15802136 (3), 10759708 (1), 11939578 (1)
    pcbs 16.3 11 9162090 (5), 12162965 (3)
    heparin 10.4 1 12195701 (1)
    cholesterol 0 2 12439147 (1)
    calcium 0 1 9162090 (1)
    creatinine 0 5 12439147 (1), 14697944 (1)



    CPB2 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for CPB2 gene (3 alternative transcripts): 
    NM_001278541.1  NM_001872.4  NM_016413.3  

    Unigene Cluster for CPB2:

    Carboxypeptidase B2 (plasma)
    Hs.512937  [show with all ESTs]
    Unigene Representative Sequence: NM_001872
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000181383(uc001vaw.3 uc001vax.3) ENST00000439329

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    Additional mRNA sequence: 

    AB011969.1 AK290829.1 BC007057.1 BT006936.1 M75106.1 

    7 DOTS entries:

    DT.452838  DT.91750453  DT.91750451  DT.100785542  DT.91750457  DT.100785543  DT.91873259 

    Selected AceView cDNA sequences (see all 103):

    CB154355 AA343872 CB157619 AU100156 CB156851 CR626525 CB162759 BX451532 
    BG566051 CB161453 AV655223 W88434 AA701416 BG568240 BT006936 BG616950 
    N54494 AV682320 BX091627 BX496754 BG616456 AV651872 BG618629 AV652340 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    CPB2 expression in normal human tissues (normalized intensities)      CPB2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCTTTTTACC
    CPB2 Expression
    About this image


    CPB2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Kidney (Urinary System)    fully expand to see all 5 entries
             Loop of Henle Cells Loop of Henle
             Metanephros
     
     Epithelial Cells
             Loop of Henle Cells Loop of Henle
     
     Intermediate Mesoderm (Gastrulation Derivatives)
             Mesonephros
     
     Lower Urinary Tract (Urinary System)
             Ureter
    CPB2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CPB2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.512937

    UniProtKB/Swiss-Prot: CBPB2_HUMAN, Q96IY4
    Tissue specificity: Plasma; synthesized in the liver

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CPB2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for CPB2 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cpb21 , 5 carboxypeptidase B2 (plasma)1, 5 83.89(n)1
    84.36(a)1
      14 (39.73 cM)5
    563731  NM_019775.31  NP_062749.21 
     752422875 
    chicken
    (Gallus gallus)
    Aves CPB21 carboxypeptidase B2 (plasma) 65.68(n)
    59.51(a)
      418851  XM_417046.4  XP_417046.4 
    lizard
    (Anolis carolinensis)
    Reptilia CPB26
    carboxypeptidase B2 (plasma)
    60(a)
    1 ↔ 1
    1(132089979-132107479)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.155042 Transcribed sequence with weak similarity to protein more 72.1(n)    BX703112.1 
    zebrafish
    (Danio rerio)
    Actinopterygii cpb21 carboxypeptidase B2 (plasma) 54.73(n)
    47.84(a)
      100000935  NM_001020703.2  NP_001018539.2 
    worm
    (Caenorhabditis elegans)
    Secernentea Y59C2A.13
    F02D8.41
    carboxypeptidase3
    F02D8.41
    36(a)
    (best of 2)3
    50.05(n)1
    40.3(a)1
      II(2208118-2212891)3
    1799941  NM_074283.61  NP_506684.31 


    ENSEMBL Gene Tree for CPB2 (if available)
    TreeFam Gene Tree for CPB2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CPB2 gene
    CPO2  CPA22  CPA12  CPB12  CPA62  CPA32  CPA52  CPA42  
    8 SIMAP similar genes for CPB2 using alignment to 1 protein entry:     CBPB2_HUMAN:
    CPO    CPB1    CPA3    CPA1    CPA4    CPA2
    CPA6    CPA5

    CPB2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for CPB2 (see all 1069)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 13 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs674028091,2
    C--27429407(+) TGCTG-/AAATAA 1 -- int10--------
    rs178441131,2
    C,F--27437764(-) AACAT-/ATGGAAT 1 -- int12Minor allele frequency- AT:0.29NS 74
    rs1479038131,2
    C--27438469(+) ATCTC-/AAAA  
            
    AAAAA
    1 -- int10--------
    rs345835491,2
    C--27438809(+) AAAAAA/-TTAAT 1 -- int11Minor allele frequency- -:0.00CSA 2
    rs1510457901,2
    C--27438810(+) AAGTT-/AAAAAA 1 -- int10--------
    rs115749971,2
    C,F--27571081(-) GCGGCA/GTTTTG 1 -- ds50015Minor allele frequency- G:0.01NA 184
    rs1512144931,2
    C--27571115(+) TCCTCC/TGTAGA 1 -- ds50010--------
    rs1403944191,2
    C--27571174(+) CCCTTC/TGTGGA 1 -- ds50010--------
    rs1456164511,2
    C--27571560(+) GGCACA/GAGCAG 1 -- ut310--------
    rs10871,2
    C,F,A,H--27571660(+) TGATCA/TTTGAT 1 -- ut3128Minor allele frequency- T:0.32MN NA NS EA WA 2748

    HapMap Linkage Disequilibrium report for CPB2 (46627321 - 46679211 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for CPB2 (see all 23):    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv250e201CNV Deletion23290073
    esv2675321CNV Deletion23128226
    esv2673081CNV Deletion23128226
    esv273625CNV Insertion20981092
    esv1459731CNV Insertion17803354
    esv270613CNV Insertion20981092
    esv1489617CNV Insertion17803354
    nsv900054CNV Loss21882294
    dgv1582n71CNV Loss21882294
    nsv900055CNV Loss21882294

    Human Gene Mutation Database (HGMD): CPB2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CPB2
    DNA2.0 Custom Variant and Variant Library Synthesis for CPB2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 603101    OMIM disorders: --

    Selected diseases for CPB2 (see all 46):    About MalaCards
    meningococcal infection    hemophilia    hemophilia b    gastroduodenitis
    angina pectoris    venous thromboembolism    retinal vein occlusion    von willebrand's disease
    pulmonary embolism    disseminated intravascular coagulation    thrombophilia    thrombocytosis
    antiphospholipid syndrome    gestational diabetes    thromboembolism    venous thrombosis
    hyperthyroidism    pregnancy loss    polycystic ovary syndrome    burns

    1 disease from the University of Copenhagen DISEASES database for CPB2:
    Disseminated intravascular coagulation

    CPB2 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014

    5 Novoseek inferred disease relationships for CPB2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    thrombosis 42.1 8 19195685 (2), 17127436 (1), 19719827 (1), 12958609 (1) (see all 6)
    hemophilia a 33.7 1 15719893 (1)
    coagulopathy 31.1 2 11328287 (1), 15719893 (1)
    bleeding 21.1 4 19719827 (1), 10759708 (1), 15719893 (1), 19038242 (1)
    sepsis 0 2 19719827 (1), 14717966 (1)

    Genetic Association Database (GAD): CPB2
    Human Genome Epidemiology (HuGE) Navigator: CPB2 (36 documents)

    Export disorders for CPB2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for CPB2 gene, integrated from 10 sources (see all 247):
    (articles sorted by number of sources associating them with CPB2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Isolation, molecular cloning, and partial characterization of a novel carboxypeptidase B from human plasma. (PubMed id 1939207)1, 2, 3 Eaton D.L.... Drayna D. (J. Biol. Chem. 1991)
    2. Association of a single nucleotide polymorphism in CPB2 encoding the thrombin-activable fibrinolysis inhibitor (TAF1) with blood pressure. (PubMed id 11903334)1, 4, 9 Koschinsky M.L....Hegele R.A. (Clin. Genet. 2001)
    3. Procarboxypeptidase U (TAFI) and the Thr325Ile proCPU polymorphism in patients with hereditary mucocutaneous hemorrhages. (PubMed id 19038242)1, 4, 9 Matus V....Mezzano D. ( international journal of clinical chemistry 2009)
    4. [Study on the association of thrombin activatable fibrinolysis inhibitor and the Thr325Ile and Thr147Ala polymorphisms of its encoding gene CPB2 in patients with coronary heart disease]. (PubMed id 18683146)1, 4, 9 Xu C.W....Jiang C.Y. (Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2008)
    5. Thrombin-activatable fibrinolysis inhibitor genetic polymorphisms as markers of the type of acute coronary syndrome. (PubMed id 19699511)1, 4, 9 TA ssies D....Reverter J.C. (Thromb. Res. 2009)
    6. The gene encoding human plasma carboxypeptidase B (CPB2) resides on chromosome 13. (PubMed id 1427879)1, 3, 9 Tsai S.P. and Drayna D. (Genomics 1992)
    7. Activated thrombin activatable fibrinolysis inhibitor levels are associated with the risk of cardiovascular death in patients with coronary artery disease: the AtheroGene study. (PubMed id 19017260)1, 4, 9 Tregouet D.A....Morange P.E. (J. Thromb. Haemost. 2009)
    8. Thrombin activatable fibrinolysis inhibitor gene polymorphisms are associated with antigenic levels in the Asian-Indian population but may not be a risk for stroke. (PubMed id 18986391)1, 4, 9 Biswas A....Saxena R. (Br. J. Haematol. 2008)
    9. +1040 C/T polymorphism in coding region of thrombin-activatable fibrinolysis inhibitor gene and the risk of idiopathic recurrent fetal loss. (PubMed id 20729722)1, 4 Pruner I....Radojkovic D. (amp 2010)
    10. [Prognosis value of thrombin activatable fibrinolysis inhibitor concentration and C1040T polymorphism in acute myocardial infarction treated with fibrinolysis]. (PubMed id 20627371)1, 4 GonzA!lez F.J....Benlloch S. (Med Intensiva 2010)

    (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: 1361 HGNC: 2300 AceView: CPB2 Ensembl:ENSG00000080618 euGenes: HUgn1361
    ECgene: CPB2 Kegg: 1361 H-InvDB: CPB2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for CPB2 Pharmacogenomics, SNPs, Pathways
    SeattleSNPshttp://pga.gs.washington.edu/data/cpb2/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for CPB2 gene:
    Search GeneIP for patents involving CPB2

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



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