Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 1361
Gene Summary     SNPs    Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary
Gene Symbol CPB2   Gene   UCSC   Ensembl
Aliases CPU, PCPB, TAFI
Gene name carboxypeptidase B2
Alternate names carboxypeptidase B2, carboxypeptidase B-like protein, carboxypeptidase B2 (plasma), carboxypeptidase B2 (plasma, carboxypeptidase U), carboxypeptidase R, thrombin-activable fibrinolysis inhibitor, thrombin-activatable fibrinolysis inhibitor,
Gene location 13q14.13 (49982975: 49988885)     Exons: 3     NC_000020.11
Gene summary(Entrez) 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]
OMIM 603101

SNPs

 rs2146881

Strand:    Allele origin:   Allele change: A/G/T   Mutation type: snp

CM000675.2   g.46105463T>A
CM000675.2   g.46105463T>C
NC_000013.10   g.46679598T>C
NC_000013.11   g.46105463T>A
NC_000013.11   g.46105463T>C
NG_032893.1   g.4614A>G
NG_032893.1   g.4614A>T
NM_001278541.1   c.-454A>G
NM_001278541.1   c.-454A>T
NM_001872.4   c.-454A>G
NM_001872.4   c.-454A>T

Protein Summary
Protein general information Q96IY4  

Name: Carboxypeptidase B2 (EC 3.4.17.20) (Carboxypeptidase U) (CPU) (Plasma carboxypeptidase B) (pCPB) (Thrombin activable fibrinolysis inhibitor) (TAFI)

Length: 423  Mass: 48,424

Tissue specificity: Plasma; synthesized in the liver.

Sequence MKLCSLAVLVPIVLFCEQHVFAFQSGQVLAALPRTSRQVQVLQNLTTTYEIVLWQPVTADLIVKKKQVHFFVNAS
DVDNVKAHLNVSGIPCSVLLADVEDLIQQQISNDTVSPRASASYYEQYHSLNEIYSWIEFITERHPDMLTKIHIG
SSFEKYPLYVLKVSGKEQAAKNAIWIDCGIHAREWISPAFCLWFIGHITQFYGIIGQYTNLLRLVDFYVMPVVNV
DGYDYSWKKNRMWRKNRSFYANNHCIGTDLNRNFASKHWCEEGASSSSCSETYCGLYPESEPEVKAVASFLRRNI
NQIKAYISMHSYSQHIVFPYSYTRSKSKDHEELSLVASEAVRAIEKISKNTRYTHGHGSETLYLAPGGGDDWIYD
LGIKYSFTIELRDTGTYGFLLPERYIKPTCREAFAAVSKIAWHVIRNV
Structural information
Interpro:  IPR033849 IPR003146 IPR009020 IPR000834

Pfam:  		 PF00246 PF02244
CDD:   cd06246

PDB:  		 3D66 3D67 3D68 3LMS 4P10 5HVF 5HVG 5HVH
PDBsum:   3D66 3D67 3D68 3LMS 4P10 5HVF 5HVG 5HVH
STRING:   ENSP00000181383;
Other Databases GeneCards:  CPB2;  Malacards:  CPB2

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0003331 positive regulation of ex
tracellular matrix consti
tuent secretion
 IEA biological_process
GO:0004181 metallocarboxypeptidase a
ctivity
 IEA molecular_function
GO:0005615 extracellular space
 IEA cellular_component
GO:0005623 cell
 IEA cellular_component
GO:0006508 proteolysis
 IEA biological_process
GO:0007596 blood coagulation
 IEA biological_process
GO:0008270 zinc ion binding
 IEA molecular_function
GO:0009408 response to heat
 IEA biological_process
GO:0010757 negative regulation of pl
asminogen activation
 IEA biological_process
GO:0042493 response to drug
 IEA biological_process
GO:0042730 fibrinolysis
 IBA biological_process
GO:0051918 negative regulation of fi
brinolysis
 IEA biological_process
GO:0070062 extracellular exosome
 IDA cellular_component
GO:0071333 cellular response to gluc
ose stimulus
 IEA biological_process
GO:0097421 liver regeneration
 IEA biological_process
GO:2000346 negative regulation of he
patocyte proliferation
 IEA biological_process
GO:0003331 positive regulation of ex
tracellular matrix consti
tuent secretion
 IEA biological_process
GO:0004180 carboxypeptidase activity
 IEA molecular_function
GO:0004180 carboxypeptidase activity
 IEA molecular_function
GO:0004180 carboxypeptidase activity
 IEA molecular_function
GO:0004181 metallocarboxypeptidase a
ctivity
 IEA molecular_function
GO:0004181 metallocarboxypeptidase a
ctivity
 TAS molecular_function
GO:0004181 metallocarboxypeptidase a
ctivity
 TAS molecular_function
GO:0005576 extracellular region
 IEA cellular_component
GO:0005576 extracellular region
 IEA cellular_component
GO:0005615 extracellular space
 IEA cellular_component
GO:0005615 extracellular space
 TAS cellular_component
GO:0005615 extracellular space
 TAS cellular_component
GO:0005623 cell
 IEA cellular_component
GO:0006508 proteolysis
 IEA biological_process
GO:0006508 proteolysis
 IEA biological_process
GO:0006508 proteolysis
 IEA biological_process
GO:0006508 proteolysis
 TAS biological_process
GO:0006508 proteolysis
 TAS biological_process
GO:0007596 blood coagulation
 IEA biological_process
GO:0007599 hemostasis
 IEA biological_process
GO:0008233 peptidase activity
 IEA molecular_function
GO:0008237 metallopeptidase activity
 IEA molecular_function
GO:0008270 zinc ion binding
 IEA molecular_function
GO:0009408 response to heat
 IEA biological_process
GO:0010757 negative regulation of pl
asminogen activation
 IEA biological_process
GO:0016787 hydrolase activity
 IEA molecular_function
GO:0042493 response to drug
 IEA biological_process
GO:0042730 fibrinolysis
 IEA biological_process
GO:0042730 fibrinolysis
 IBA biological_process
GO:0042730 fibrinolysis
 IEA biological_process
GO:0046872 metal ion binding
 IEA molecular_function
GO:0051918 negative regulation of fi
brinolysis
 IEA biological_process
GO:0070062 extracellular exosome
 IDA cellular_component
GO:0071333 cellular response to gluc
ose stimulus
 IEA biological_process
GO:0097421 liver regeneration
 IEA biological_process
GO:2000346 negative regulation of he
patocyte proliferation
 IEA biological_process
GO:0004181 metallocarboxypeptidase a
ctivity
 TAS molecular_function
GO:0004181 metallocarboxypeptidase a
ctivity
 TAS molecular_function
GO:0005615 extracellular space
 TAS cellular_component
GO:0005615 extracellular space
 TAS cellular_component
GO:0006508 proteolysis
 TAS biological_process
GO:0006508 proteolysis
 TAS biological_process
GO:0042730 fibrinolysis
 IBA biological_process
GO:0070062 extracellular exosome
 IDA cellular_component

KEGG pathways

hsa04610  Complement and coagulation cascades
hsa04972  Pancreatic secretion
hsa04974  Protein digestion and absorption
hsa04974  Protein digestion and absorption
hsa04972  Pancreatic secretion
hsa04610  Complement and coagulation cascades

Diseases

Associated diseases References
Behcet's disease PMID: 18341631
Cancer PMID: 18674955
Chronic kidney failure PMID: 19578796
Endometriosis PMID: 21819230
Metabolic syndrome PMID: 19056482
Myocardial infarction PMID: 12006404
Polycystic ovary syndrome (PCOS) PMID: 19253106
Preeclampsia PMID: 15333035
Pregnancy loss PMID: 18774564
Endometriosis INFBASE29271982

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
29271982 Endometrio
sis

SNAIL
 Show abstract