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CPB2 carboxypeptidase B2 [ Homo sapiens (human) ]

Gene ID: 1361, updated on 22-Apr-2024

Summary

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Official Symbol
CPB2provided by HGNC
Official Full Name
carboxypeptidase B2provided by HGNC
Primary source
HGNC:HGNC:2300
See related
Ensembl:ENSG00000080618 MIM:603101; AllianceGenome:HGNC:2300
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CPU; PCPB; TAFI
Summary
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]
Expression
Restricted expression toward liver (RPKM 288.0) See more
Orthologs
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Genomic context

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Location:
13q14.13
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (46053186..46105033, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (45274576..45326411, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (46627321..46679168, complement)

Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105370191 Neighboring gene zinc finger CCCH-type containing 13 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:46626065-46626601 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:46626602-46627137 Neighboring gene CPB2 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7686 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7687 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7688 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:46660879-46661378 Neighboring gene Sharpr-MPRA regulatory region 4806 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7689 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7690 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr13:46724131-46725330 Neighboring gene lymphocyte cytosolic protein 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7691 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7692 Neighboring gene RNA, 7SL, cytoplasmic 288, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7693 Neighboring gene uncharacterized LOC107984578 Neighboring gene uncharacterized LOC105370192

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. ProCPU Is Expressed by (Primary) Human Monocytes and Macrophages and Expression Differs between States of Differentiation and Activation. Claesen K, et al. Int J Mol Sci, 2023 Feb 13. PMID 36835137, Free PMC Article
  2. Carboxypeptidase U (TAFIa) Is Rapidly Activated and Deactivated Following Thrombolysis and Thrombectomy in Stroke Patients. Mertens JC, et al. Transl Stroke Res, 2022 Dec. PMID 34796454
  3. Relationship Between Polymorphism of Thrombin-Activatable Fibrinolysis Inhibitor Gene +1040C/T and a Cohort of Chinese Women With Recurrent Spontaneous Abortion. Fang P, et al. Clin Appl Thromb Hemost, 2021 Jan-Dec. PMID 34189940, Free PMC Article
  4. Presence of thrombophilia and levels of coagulation factors, coagulation inhibitors and TAFI do not affect global haemostasis or bleeding phenotype in patients with haemophilia A. Mikovic D, et al. Thromb Res, 2019 Jan. PMID 30447478
  5. Association of TAFI gene polymorphisms with severity of coronary stenosis in stable coronary artery disease. Rattanawan C, et al. Thromb Res, 2018 Nov. PMID 30321704

See all (231) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. A challenging issue in COVID-19 infection: The relationship between PA1-1 and TAFI levels in patients with coagulation disorder: A retrospective and observational study.
    Title: A challenging issue in COVID-19 infection: The relationship between PA1-1 and TAFI levels in patients with coagulation disorder: A retrospective and observational study.
  2. Serum Proteomics Identified TAFI as a Potential Molecule Facilitating the Migration of Peripheral Monocytes to Damaged White Matter During Chronic Cerebral Hypoperfusion.
    Title: Serum Proteomics Identified TAFI as a Potential Molecule Facilitating the Migration of Peripheral Monocytes to Damaged White Matter During Chronic Cerebral Hypoperfusion.
  3. Plasma thrombin-activatable fibrinolysis inhibitor and the 1040C/T polymorphism are risk factors for diabetic kidney disease in Chinese patients with type 2 diabetes.
    Title: Plasma thrombin-activatable fibrinolysis inhibitor and the 1040C/T polymorphism are risk factors for diabetic kidney disease in Chinese patients with type 2 diabetes.
  4. Association between TAFI and PAI-1 polymorphisms with biochemical and hemostatic parameters in polycystic ovary syndrome.
    Title: Association between TAFI and PAI-1 polymorphisms with biochemical and hemostatic parameters in polycystic ovary syndrome.
  5. ProCPU Is Expressed by (Primary) Human Monocytes and Macrophages and Expression Differs between States of Differentiation and Activation.
    Title: ProCPU Is Expressed by (Primary) Human Monocytes and Macrophages and Expression Differs between States of Differentiation and Activation.
  6. Carboxypeptidase U (TAFIa) Is Rapidly Activated and Deactivated Following Thrombolysis and Thrombectomy in Stroke Patients.
    Title: Carboxypeptidase U (TAFIa) Is Rapidly Activated and Deactivated Following Thrombolysis and Thrombectomy in Stroke Patients.
  7. Relationship Between Polymorphism of Thrombin-Activatable Fibrinolysis Inhibitor Gene +1040C/T and a Cohort of Chinese Women With Recurrent Spontaneous Abortion.
    Title: Relationship Between Polymorphism of Thrombin-Activatable Fibrinolysis Inhibitor Gene +1040C/T and a Cohort of Chinese Women With Recurrent Spontaneous Abortion.
  8. Fibrinogen and Antifibrinolytic Proteins: Interactions and Future Therapeutics.
    Title: Fibrinogen and Antifibrinolytic Proteins: Interactions and Future Therapeutics.
  9. Combining genetic effect in recurrent spontaneous abortion of vascular endothelial growth factor, endothelial nitric oxide synthase and thrombin-activatable fibrinolysis inhibitor genetic polymorphisms.
    Title: The prevalence of combined vascular endothelial growth factor, endothelial nitric oxide synthase and thrombin-activatable fibrinolysis inhibitor genetic polymorphisms among Egyptian patients with recurrent spontaneous abortion.
  10. TAFI is highly expressed in endometriosis and causes epithelial mesenchymal transition (EMT), which accelerated the cell proliferation and cell invasion.
    Title: Overexpression of TAFI promotes epithelial mesenchymal transition in endometriosis.
Submit: New GeneRIF Correction See all GeneRIFs (193)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables metallocarboxypeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables zinc ion binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in blood coagulation IEA
Inferred from Electronic Annotation
more info
  
involved_in cellular response to glucose stimulus IEA
Inferred from Electronic Annotation
more info
  
involved_in fibrinolysis IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in liver regeneration IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of fibrinolysis IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of hepatocyte proliferation IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of plasminogen activation IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of extracellular matrix constituent secretion IEA
Inferred from Electronic Annotation
more info
  
involved_in protein catabolic process IEA
Inferred from Electronic Annotation
more info
  
involved_in proteolysis IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in response to xenobiotic stimulus IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in extracellular exosome HDA PubMed 
located_in extracellular region TAS
Traceable Author Statement
more info
  
is_active_in extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
carboxypeptidase B2
Names
carboxypeptidase B-like protein
carboxypeptidase B2 (plasma)
carboxypeptidase B2 (plasma, carboxypeptidase U)
carboxypeptidase R
thrombin-activable fibrinolysis inhibitor
thrombin-activatable fibrinolysis inhibitor
NP_001265470.1
NP_001863.3
XP_016875882.1
XP_054230089.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_032893.2 RefSeqGene

    Range
    5001..56848
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_632

mRNA and Protein(s)

  1. NM_001278541.2 → NP_001265470.1  carboxypeptidase B2 isoform 2 preproprotein

    See identical proteins and their annotated locations for NP_001265470.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the central coding region compared to variant 1. It encodes isoform 2 which is shorter compared to isoform 1.
    Source sequence(s)
    AB011969, AL137141, AL157758, AU100156
    Consensus CDS
    CCDS73568.1
    UniProtKB/TrEMBL
    A0A087WSY5
    Related
    ENSP00000400714.3, ENST00000439329.5
    Conserved Domains (2) summary
    pfam02244
    Location:33 → 104
    Propep_M14; Carboxypeptidase activation peptide
    cl11393
    Location:119 → 383
    Peptidase_M14_like; M14 family of metallocarboxypeptidases and related proteins

  2. NM_001872.5 → NP_001863.3  carboxypeptidase B2 isoform 1 preproprotein

    See identical proteins and their annotated locations for NP_001863.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AL137141, AL157758, BC007057
    Consensus CDS
    CCDS9401.1
    UniProtKB/Swiss-Prot
    A8K464, Q15114, Q5T9K1, Q5T9K2, Q96IY4, Q9P2Y6
    Related
    ENSP00000181383.4, ENST00000181383.10
    Conserved Domains (2) summary
    cd06246
    Location:119 → 420
    M14_CPB2; Peptidase M14 carboxypeptidase subfamily A/B-like; Carboxypeptidase B2 subgroup
    pfam02244
    Location:33 → 104
    Propep_M14; Carboxypeptidase activation peptide

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000013.11 Reference GRCh38.p14 Primary Assembly

    Range
    46053186..46105033 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017020393.3 → XP_016875882.1  carboxypeptidase B2 isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060937.1 Alternate T2T-CHM13v2.0

    Range
    45274576..45326411 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054374114.1 → XP_054230089.1  carboxypeptidase B2 isoform X1

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_016413.3: Suppressed sequence

    Description
    NM_016413.3: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96IY4.2 GenPept UniProtKB/Swiss-Prot:Q96IY4

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