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    CPB2 carboxypeptidase B2 [ Homo sapiens (human) ]

    Gene ID: 1361, updated on 2-Nov-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
    mouse all
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    Genomic context

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    See CPB2 in Genome Data Viewer
    Location:
    13q14.13
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (46053186..46105033, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (45274576..45326411, complement)
    RS_2024_09 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 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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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Thrombin activatable fibrinolysis inhibitor plasma levels and TAFI Thr325Ile genetic polymorphism in a cohort of Egyptian sickle cell disease patients and impact on disease severity.
      Title: Thrombin activatable fibrinolysis inhibitor plasma levels and TAFI Thr325Ile genetic polymorphism in a cohort of Egyptian sickle cell disease patients and impact on disease severity.
    2. 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.
    3. 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.
    4. 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.
    5. 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.
    6. 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.
    7. 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.
    8. 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.
    9. Fibrinogen and Antifibrinolytic Proteins: Interactions and Future Therapeutics.
      Title: Fibrinogen and Antifibrinolytic Proteins: Interactions and Future Therapeutics.
    10. 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.
    Submit: New GeneRIF Correction See all GeneRIFs (194)

    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)

    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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    NEW Try the new Transcript table

    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_2024_08

    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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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