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Aliases for CPB2 Gene

Aliases for CPB2 Gene

  • Carboxypeptidase B2 2 3 3 5
  • Carboxypeptidase B2 (Plasma, Carboxypeptidase U) 2 3
  • Thrombin-Activatable Fibrinolysis Inhibitor 2 3
  • Thrombin-Activable Fibrinolysis Inhibitor 3 4
  • Carboxypeptidase B2 (Plasma) 2 3
  • Plasma Carboxypeptidase B 2 4
  • Carboxypeptidase R 2 3
  • Carboxypeptidase U 2 4
  • PCPB 3 4
  • TAFI 3 4
  • CPU 3 4
  • Carboxypeptidase B-Like Protein 3
  • EC 3.4.17.20 4

External Ids for CPB2 Gene

Previous GeneCards Identifiers for CPB2 Gene

  • GC13M044627
  • GC13M040614
  • GC13M045563
  • GC13M044425
  • GC13M045525
  • GC13M046627
  • GC13M027424

Summaries for CPB2 Gene

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) is a Protein Coding gene. Diseases associated with CPB2 include Factor Xiii Deficiency and Factor Xi Deficiency. Among its related pathways are Complement and coagulation cascades and Peptide hormone metabolism. Gene Ontology (GO) annotations related to this gene include metallocarboxypeptidase activity and carboxypeptidase activity. An important paralog of this gene is CPB1.

UniProtKB/Swiss-Prot for CPB2 Gene

  • 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 Gene

Additional gene information for CPB2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CPB2 Gene

Genomics for CPB2 Gene

GeneHancer (GH) Regulatory Elements for CPB2 Gene

Promoters and enhancers for CPB2 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
GH13J046105 Promoter 1.2 EPDnew 650.7 +0.0 38 0.1 FOXA2 MLX ARID4B DMAP1 YY1 RXRA MIER2 REST PPARG KAT8 CPB2 CPB2-AS1
GH13J046103 Enhancer 0.3 FANTOM5 21 +2.5 2502 0.1 CPB2 ZC3H13 CPB2-AS1
GH13J046109 Enhancer 0.9 ENCODE 0.7 -4.8 -4808 0.8 ELF3 FOXA2 MLX ARID4B DMAP1 RAD21 THRB ZNF48 RARA SLC30A9 CPB2-AS1 ZC3H13 CPB2 ENSG00000278937
GH13J046100 Enhancer 0.7 ENCODE 0.7 +4.3 4291 0.5 FOXA2 TAF1 TAL1 MAX BATF YY1 TCF12 NCOR1 EGR1 ATF7 ZC3H13 CPB2-AS1 CPB2
GH13J046051 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 0.2 +52.5 52546 2.7 PKNOX1 SMAD1 ARID4B SIN3A ZNF2 YY1 SLC30A9 POLR2B E2F8 ZNF207 CPB2-AS1 ZC3H13 CPB2 LOC105370191
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CPB2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CPB2 gene promoter:
  • C/EBPalpha
  • Sox9
  • AREB6
  • Pbx1a
  • LUN-1
  • Sox5
  • FOXD1
  • HNF-1A

Genomic Locations for CPB2 Gene

Genomic Locations for CPB2 Gene
chr13:46,053,187-46,105,076
(GRCh38/hg38)
Size:
51,890 bases
Orientation:
Minus strand
chr13:46,627,321-46,679,211
(GRCh37/hg19)
Size:
51,891 bases
Orientation:
Minus strand

Genomic View for CPB2 Gene

Genes around CPB2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CPB2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CPB2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CPB2 Gene

Proteins for CPB2 Gene

  • Protein details for CPB2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96IY4-CBPB2_HUMAN
    Recommended name:
    Carboxypeptidase B2
    Protein Accession:
    Q96IY4
    Secondary Accessions:
    • A8K464
    • Q15114
    • Q5T9K1
    • Q5T9K2
    • Q9P2Y6

    Protein attributes for CPB2 Gene

    Size:
    423 amino acids
    Molecular mass:
    48424 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for CPB2 Gene

    Alternative splice isoforms for CPB2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CPB2 Gene

Post-translational modifications for CPB2 Gene

  • N-glycosylated. N-glycan at Asn-108: Hex5HexNAc4.
  • Glycosylation at Asn241, Asn108, Asn85, posLast=7373, and posLast=4444
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • CBPB2_HUMAN (699)

Other Protein References for CPB2 Gene

No data available for DME Specific Peptides for CPB2 Gene

Domains & Families for CPB2 Gene

Gene Families for CPB2 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Enzymes
  • Plasma proteins
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for CPB2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96IY4

UniProtKB/Swiss-Prot:

CBPB2_HUMAN :
  • Belongs to the peptidase M14 family.
Family:
  • Belongs to the peptidase M14 family.
genes like me logo Genes that share domains with CPB2: view

Function for CPB2 Gene

Molecular function for CPB2 Gene

UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot CatalyticActivity:
Release of C-terminal Arg and Lys from a polypeptide.
UniProtKB/Swiss-Prot EnzymeRegulation:
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:
carboxypeptidase B2,plasma,regulator of plasminogen activation

Enzyme Numbers (IUBMB) for CPB2 Gene

Phenotypes From GWAS Catalog for CPB2 Gene

Gene Ontology (GO) - Molecular Function for CPB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004180 carboxypeptidase activity IEA --
GO:0004181 metallocarboxypeptidase activity TAS,IEA --
GO:0008233 peptidase activity IEA --
GO:0008237 metallopeptidase activity IEA --
GO:0008270 zinc ion binding IEA --
genes like me logo Genes that share ontologies with CPB2: view
genes like me logo Genes that share phenotypes with CPB2: view

Animal Models for CPB2 Gene

MGI Knock Outs for CPB2:

Animal Model Products

  • Taconic Biosciences Mouse Models for CPB2

CRISPR Products

miRNA for CPB2 Gene

miRTarBase miRNAs that target CPB2

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CPB2

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CPB2 Gene

Localization for CPB2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CPB2 Gene

Secreted.

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 CPB2 gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 2
lysosome 1

Gene Ontology (GO) - Cellular Components for CPB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IBA,IEA --
GO:0005623 cell IEA --
GO:0070062 extracellular exosome HDA 23533145
genes like me logo Genes that share ontologies with CPB2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CPB2 Gene

Pathways & Interactions for CPB2 Gene

genes like me logo Genes that share pathways with CPB2: view

Gene Ontology (GO) - Biological Process for CPB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003331 positive regulation of extracellular matrix constituent secretion IEA --
GO:0006508 proteolysis IEA --
GO:0007596 blood coagulation IEA --
GO:0007599 hemostasis IEA --
GO:0009408 response to heat IEA --
genes like me logo Genes that share ontologies with CPB2: view

No data available for SIGNOR curated interactions for CPB2 Gene

Drugs & Compounds for CPB2 Gene

(9) Drugs for CPB2 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Prothrombin Approved Pharma Target, agonist 0
Zinc Approved, Investigational Pharma 2430
AZD-9684 Investigational Pharma Target 0

(4) Additional Compounds for CPB2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with CPB2: view

Transcripts for CPB2 Gene

mRNA/cDNA for CPB2 Gene

Unigene Clusters for CPB2 Gene

Carboxypeptidase B2 (plasma):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CPB2

Alternative Splicing Database (ASD) splice patterns (SP) for CPB2 Gene

No ASD Table

Relevant External Links for CPB2 Gene

GeneLoc Exon Structure for
CPB2
ECgene alternative splicing isoforms for
CPB2

Expression for CPB2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CPB2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CPB2 Gene

This gene is overexpressed in Liver (x52.0).

Protein differential expression in normal tissues from HIPED for CPB2 Gene

This gene is overexpressed in Serum (36.2), Plasma (8.9), and Synovial fluid (7.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CPB2 Gene



Protein tissue co-expression partners for CPB2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CPB2 Gene:

CPB2

SOURCE GeneReport for Unigene cluster for CPB2 Gene:

Hs.512937

mRNA Expression by UniProt/SwissProt for CPB2 Gene:

Q96IY4-CBPB2_HUMAN
Tissue specificity: Plasma; synthesized in the liver.

Evidence on tissue expression from TISSUES for CPB2 Gene

  • Liver(4.8)
  • Muscle(4.2)
  • Bone marrow(4)
  • Blood(2.9)
  • Eye(2.4)
  • Heart(2)
genes like me logo Genes that share expression patterns with CPB2: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for CPB2 Gene

Orthologs for CPB2 Gene

This gene was present in the common ancestor of animals.

Orthologs for CPB2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CPB2 34 33
  • 99.53 (n)
OneToOne
dog
(Canis familiaris)
Mammalia CPB2 34 33
  • 85.42 (n)
OneToOne
cow
(Bos Taurus)
Mammalia CPB2 34 33
  • 85.03 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cpb2 33
  • 84.01 (n)
mouse
(Mus musculus)
Mammalia Cpb2 16 34 33
  • 83.89 (n)
oppossum
(Monodelphis domestica)
Mammalia CPB2 34
  • 69 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CPB2 34
  • 63 (a)
OneToOne
chicken
(Gallus gallus)
Aves CPB2 34 33
  • 65.68 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CPB2 34
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cpb2 33
  • 61.67 (n)
Str.15504 33
zebrafish
(Danio rerio)
Actinopterygii cpb2 34 33
  • 54.73 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG3097 35
  • 42 (a)
CG14820 35
  • 38 (a)
CG18417 35
  • 35 (a)
CG4408 35
  • 34 (a)
CG4017 35
  • 34 (a)
CG18585 35
  • 34 (a)
CG8563 35
  • 34 (a)
CG3108 35
  • 33 (a)
CG2915 35
  • 33 (a)
CG18415 35
  • 32 (a)
CG8562 35
  • 30 (a)
CG8945 35
  • 30 (a)
CG7025 35
  • 30 (a)
CG15769 35
  • 26 (a)
worm
(Caenorhabditis elegans)
Secernentea F02D8.4 33
  • 50.05 (n)
Y59C2A.1 35
  • 36 (a)
R11A5.7 35
  • 31 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 40 (a)
ManyToMany
CSA.4459 34
  • 35 (a)
ManyToMany
Species where no ortholog for CPB2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)

Evolution for CPB2 Gene

ENSEMBL:
Gene Tree for CPB2 (if available)
TreeFam:
Gene Tree for CPB2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CPB2: view image

Paralogs for CPB2 Gene

Paralogs for CPB2 Gene

(8) SIMAP similar genes for CPB2 Gene using alignment to 1 proteins:

  • CBPB2_HUMAN
genes like me logo Genes that share paralogs with CPB2: view

Variants for CPB2 Gene

Sequence variations from dbSNP and Humsavar for CPB2 Gene

SNP ID Clin Chr 13 pos Variation AA Info Type
rs1000017871 -- 46,078,541(-) A/C intron_variant
rs1000046731 -- 46,054,357(-) T/C intron_variant
rs1000098859 -- 46,106,580(-) AAATAAAT/AAAT upstream_transcript_variant
rs1000108087 -- 46,094,422(-) C/T intron_variant
rs1000228172 -- 46,075,042(-) G/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for CPB2 Gene

Variant ID Type Subtype PubMed ID
dgv223e201 CNV deletion 23290073
esv1459731 CNV insertion 17803354
esv1489617 CNV insertion 17803354
esv2673081 CNV deletion 23128226
esv2675321 CNV deletion 23128226
esv3306336 CNV mobile element insertion 20981092
esv3309352 CNV mobile element insertion 20981092
esv3332050 CNV insertion 20981092
esv3340783 CNV insertion 20981092
esv3631973 CNV loss 21293372
esv3631974 CNV loss 21293372
nsv455876 CNV gain 19166990
nsv561581 CNV gain 21841781
nsv820278 CNV loss 19587683
nsv832598 CNV gain 17160897

Variation tolerance for CPB2 Gene

Residual Variation Intolerance Score: 34.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.05; 84.35% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CPB2 Gene

Human Gene Mutation Database (HGMD)
CPB2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CPB2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CPB2 Gene

Disorders for CPB2 Gene

MalaCards: The human disease database

(5) MalaCards diseases for CPB2 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
factor xiii deficiency
  • deficiency, laki-lorand factor
factor xi deficiency
  • f11 deficiency
byssinosis
  • cotton mill fever
meningococcal infection
  • meningococcal infections
thrombophilia
  • hypercoagulability state
- elite association - COSMIC cancer census association via MalaCards
Search CPB2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CPB2

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 CPB2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CPB2 Gene

Publications for CPB2 Gene

  1. Activated thrombin activatable fibrinolysis inhibitor levels are associated with the risk of cardiovascular death in patients with coronary artery disease: the AtheroGene study. (PMID: 19017260) Tregouet DA … AtheroGene Investigators (Journal of thrombosis and haemostasis : JTH 2009) 3 22 44 58
  2. Procarboxypeptidase U (TAFI) and the Thr325Ile proCPU polymorphism in patients with hereditary mucocutaneous hemorrhages. (PMID: 19038242) Matus V … Mezzano D (Clinica chimica acta; international journal of clinical chemistry 2009) 3 22 44 58
  3. Thrombin-activatable fibrinolysis inhibitor genetic polymorphisms as markers of the type of acute coronary syndrome. (PMID: 19699511) Tàssies D … Reverter JC (Thrombosis research 2009) 3 22 44 58
  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]. (PMID: 18683146) Xu CW … Jiang CY (Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2008) 3 22 44 58
  5. Thrombin activatable fibrinolysis inhibitor gene polymorphisms are associated with antigenic levels in the Asian-Indian population but may not be a risk for stroke. (PMID: 18986391) Biswas A … Saxena R (British journal of haematology 2008) 3 22 44 58

Products for CPB2 Gene

Sources for CPB2 Gene

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