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CPE Gene

protein-coding   GIFtS: 73
GCID: GC04P166300

Carboxypeptidase E

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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 E1 2     Prohormone-Processing Carboxypeptidase2 3
Carboxypeptidase H1 2 3     CPH2 3
Enkephalin Convertase1 2 3     EC 3.4.17.103 8
Cobalt-Stimulated Chromaffin Granule Carboxypeptidase1 2     EC 3.4.178
Insulin Granule-Associated Carboxypeptidase1 2     

External Ids:    HGNC: 23031   Entrez Gene: 13632   Ensembl: ENSG000001094727   OMIM: 1148555   UniProtKB: P168703   

Export aliases for CPE gene to outside databases

Previous GC identifers: GC04P167151 GC04P166728 GC04P166877 GC04P166657 GC04P166519 GC04P162051


(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 CPE Gene:
This gene encodes a carboxypeptidase that cleaves C-terminal amino acid residues and is involved in the
biosynthesis of peptide hormones and neurotransmitters, including insulin. It is a peripheral membrane protein.
The protein specifically binds regulated secretory pathway proteins, including prohormones, but not
constitutively secreted proteins. Mutations in this gene are implicated in type II diabetes. (provided by RefSeq,
Jul 2008)

GeneCards Summary for CPE Gene:
CPE (carboxypeptidase E) is a protein-coding gene. Diseases associated with CPE include obesity with impaired prohormone processing, and pulmonary neuroendocrine tumor. GO annotations related to this gene include carboxypeptidase activity and cell adhesion molecule binding. An important paralog of this gene is CPZ.

UniProtKB/Swiss-Prot: CBPE_HUMAN, P16870
Function: Removes residual C-terminal Arg or Lys remaining after initial endoprotease cleavage during prohormone
processing. Processes proinsulin

Gene Wiki entry for CPE (Carboxypeptidase E) 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_000004.12  NC_018915.2  NT_016354.20  
Regulatory elements:
   Regulatory transcription factor binding sites in the CPE gene promoter:
         Pax-5   XBP-1   IRF-1   AP-4   Cdc5   E47   GATA-2   HOXA5   ATF   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCPE promoter sequence
   Search Chromatin IP Primers for CPE

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


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

Entrez Gene cytogenetic band: 4q32.3   Ensembl cytogenetic band:  4q32.3   HGNC cytogenetic band: 4q32.3

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

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04P166300:  view genomic region     (about GC identifiers)

Start:
166,282,346 bp from pter      End:
166,419,482 bp from pter
Size:
137,137 bases      Orientation:
plus 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: CBPE_HUMAN, P16870 (See protein sequence)
Recommended Name: Carboxypeptidase E precursor  
Size: 476 amino acids; 53151 Da
Cofactor: Binds 1 zinc ion per subunit (By similarity)
Subunit: Isoform 2 interacts with HDAC1 and HDAC2
Sequence caution: Sequence=BAG52254.1; Type=Frameshift; Positions=415;
Secondary accessions: A8K4N1 B3KR42 B4DFN4 D3DP33 Q9UIU9
Alternative splicing: 2 isoforms:  P16870-1   P16870-2   

Explore the universe of human proteins at neXtProt for CPE: NX_P16870

Explore proteomics data for CPE at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn139, Asn390
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for CPE (P16870) (see all 19)
     VANYPYD  GDYWRLL  GNMHGNE  IPFVLSA 


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

    REFSEQ proteins: NP_001864.1  
    ENSEMBL proteins: 
     ENSP00000424830   ENSP00000386104   ENSP00000427629   ENSP00000416601   ENSP00000423699  
    Reactome Protein details: P16870

    CPE Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for CPE

    CPE Antibody Products:

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    LSBio Antibodies in human, mouse, rat for CPE

    CPE Assay Products:

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    Cloud-Clone Corp. ELISAs for CPE
    Cloud-Clone Corp. CLIAs for CPE


    (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 E
    Metallocarboxypeptidases

    3 InterPro protein domains:
     IPR008969 CarboxyPept-like_regulatory
     IPR014766 CarboxyPept_regulatory_dom
     IPR000834 Peptidase_M14

    Graphical View of Domain Structure for InterPro Entry P16870

    ProtoNet protein and cluster: P16870

    1 Blocks protein domain: IPB000834 Zinc carboxypeptidase A metalloprotease (M14)

    UniProtKB/Swiss-Prot: CBPE_HUMAN, P16870
    Similarity: Belongs to the peptidase M14 family


    CPE 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: CBPE_HUMAN, P16870
    Function: Removes residual C-terminal Arg or Lys remaining after initial endoprotease cleavage during prohormone
    processing. Processes proinsulin
    Catalytic activity: Release of C-terminal arginine or lysine residues from polypeptides

         Genatlas biochemistry entry for CPE:
    carboxypeptidase E,metallo carboxypeptidase family,regulated secretory pathway sorting receptor,involved in the
    trimming of paired basic residues at the C terminus of prohormone-derived peptides,mutated in the obese fat mouse

         Enzyme Numbers (IUBMB): EC 3.4.17.101 2 EC 3.4.172

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004180carboxypeptidase activity TAS9019408
    GO:0004181metallocarboxypeptidase activity IEA--
    GO:0008270zinc ion binding IEA--
    GO:0042043neurexin family protein binding IPI19166515
    GO:0050839cell adhesion molecule binding IPI19166515
         
    CPE for ontologies           About GeneDecksing


    Phenotypes:
         10 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Cpe):
     adipose tissue  behavior/neurological  digestive/alimentary  endocrine/exocrine gland  growth/size/body 
     homeostasis/metabolism  integument  muscle  nervous system  reproductive system 

    CPE for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Cpetm1Yplo for CPE

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CPE
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for CPE

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CPE
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CPE

    miRNA
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    miRTarBase miRNAs that target CPE:
    hsa-mir-17-5p (MIRT050834), hsa-mir-335-5p (MIRT018916)

    Block miRNA regulation of human, mouse, rat CPE using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate CPE:
    hsa-miR-551b*
    SwitchGear 3'UTR luciferase reporter plasmidCPE 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for CPE
    Predesigned siRNA for gene silencing in human, mouse, rat CPE

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector: CPE (NM_001873)
    Sino Biological Human cDNA Clone for CPE
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CPE

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CPE


    (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
    CBPE_HUMAN, P16870: Isoform 1: Cytoplasmic vesicle, secretory vesicle membrane; Peripheral membrane protein (By
    similarity). Secreted (By similarity). Note=Associated with the secretory granule membrane through direct binding
    to lipid rafts in intragranular conditions (By similarity)
    CBPE_HUMAN, P16870: Isoform 2: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    golgi apparatus4
    plasma membrane4
    extracellular3
    endoplasmic reticulum2
    lysosome1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region IEA--
    GO:0005634nucleus IEA--
    GO:0005794Golgi apparatus IDA19166515
    GO:0005886plasma membrane TAS9019408
    GO:0030658transport vesicle membrane IEA--

    CPE 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 CPE About    
    See pathways by source

    SuperPathContained pathways About
    1Peptide hormone metabolism
    Peptide hormone metabolism0.30
    Insulin Processing0.30
    2Allograft rejection
    Type I diabetes mellitus0.69
    3Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
    Metabolism of proteins0.30
    4Arf6 trafficking events
    Arf6 trafficking events
    5Adenylate cyclase activating neuropeptides
    Adenylate cyclase activating neuropeptides

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for CPE
        Arf6 trafficking events


    1 Reactome Pathway for CPE
        Insulin processing


    1 Kegg Pathway  (Kegg details for CPE):
        Type I diabetes mellitus


    CPE for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including CPE: 
              Obesity in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for CPE

    STRING Interaction Network Preview (showing 5 interactants - click image to see 18)

    Selected Interacting proteins for CPE (P168701, 2, 3 ENSP000003861044) via UniProtKB, MINT, STRING, and/or I2D (see all 32)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CHD3Q128732, 3MINT-63496 I2D: score=5 
    GTF3C1Q127892, 3MINT-63489 I2D: score=5 
    MED31Q9Y3C72, 3MINT-63495 I2D: score=5 
    POLA2Q141812, 3MINT-63490 I2D: score=5 
    POLDIP2Q9Y2S72, 3MINT-63494 I2D: score=5 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003214cardiac left ventricle morphogenesis IMP19593212
    GO:0006464cellular protein modification process NAS2334405
    GO:0006508proteolysis ----
    GO:0007218neuropeptide signaling pathway NAS2334405
    GO:0008152metabolic process TAS7663508

    CPE 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 CPE (CBPE)

    2 HMDB Compounds for CPE    About this table
    CompoundSynonyms CAS #PubMed Ids
    CobaltCo (see all 6)7440-48-4--
    ZincZinc (see all 2)7440-66-6--

    2 DrugBank Compounds for CPE    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Insulin, porcine-- 9004-14-2target--12588113 2481446 17016423 17139284 9452465
    Insulin Regular -- 11061-68-0target--17139284 17016423

    Selected Novoseek inferred chemical compound relationships for CPE gene (see all 14)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    peptidylglycine 86.3 8 18411149 (1), 7681630 (1), 7865135 (1), 8402152 (1) (see all 7)
    gemsa 82.1 3 7696431 (2)
    prepro npy 67.2 5 19428990 (2), 19190683 (1)
    proglucagon 54.1 1 9287128 (1)
    c-peptide 46.7 2 9662053 (1)
    lysine 23 2 8600990 (1), 9624159 (1)
    glutamate 22.3 6 8314014 (2), 8864828 (1), 8262314 (1), 7556984 (1) (see all 5)
    forskolin 13.3 2 8051069 (1)
    serine 13.2 2 9572108 (1), 19419578 (1)
    glucose 5.23 3 17957445 (1), 8522057 (1)



    CPE 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 CPE gene: 
    NM_001873.2  

    Unigene Cluster for CPE:

    Carboxypeptidase E
    Hs.75360  [show with all ESTs]
    Unigene Representative Sequence: NM_001873
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000513982 ENST00000402744(uc003irg.4) ENST00000480404 ENST00000431967
    ENST00000511992

    miRNA
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    1 qRT-PCR Assays for microRNA that regulate CPE:
    hsa-miR-551b*
    SwitchGear 3'UTR luciferase reporter plasmidCPE 3' UTR sequence
    Inhib. RNA
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CPE
      QuantiTect SYBR Green Assays in human, mouse, rat CPE
      QuantiFast Probe-based Assays in human, mouse, rat CPE

    Additional mRNA sequence: 

    AK090962.1 AK127165.1 AK290996.1 AK294175.1 BC033866.1 BC053612.1 X51405.1 

    22 DOTS entries:

    DT.92453863  DT.97819616  DT.101984035  DT.100881222  DT.92453871  DT.100764518  DT.121254437  DT.121254414 
    DT.121254436  DT.121254470  DT.92453856  DT.92453870  DT.100881228  DT.121254387  DT.121254441  DT.121254454 
    DT.92453867  DT.95273839  DT.95273844  DT.95273850  DT.97857650  DT.95273838 

    Selected AceView cDNA sequences (see all 786):

    BM272530 BQ268411 BU726811 BM721262 BM548564 AW498607 N67561 CD676602 
    AV749385 AV703729 BU075648 F01728 AA370044 BU789166 BF111134 BU947521 
    BU790251 BM314449 BE467472 BQ268303 BI711200 BF940206 BQ130002 BQ695229 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for CPE (see all 7)    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10 ^ 11a · 11b ^ 12a · 12b ^ 13a · 13b ^ 14
    SP1:                          -     -     -     -                                                                                       
    SP2:              -           -     -     -     -                                                                                       
    SP3:                                      -                                                                                             
    SP4:                                                                                                  -     -                           
    SP5:                          -     -     -     -                                                                                       


    ECgene alternative splicing isoforms for CPE

    (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)
    About This Section

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    CPE expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTTACAAAGA
    CPE Expression
    About this image


    CPE expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 26) fully expand
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Midbrain tegmentum
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 2 entries
             Inner Cell Mass Cells Inner Cell Mass
             Blimp1- mVenus and stella-ECFP genetically modified stem cells
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Pre-Granulosa Cells Primordial Follicle
     
     Testis (Reproductive System)
             Pre-Sertoli Cells Testis Cord
    CPE Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CPE Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.75360

    UniProtKB/Swiss-Prot: CBPE_HUMAN, P16870
    Tissue specificity: Isoform 2, but not isoform 1, is overexpressed in hepatocellular carcinoma (at protein level),
    as well as in other tumors, including pheochromocytomas and paragangliomas

        Pathway & Disease-focused RT2 Profiler PCR Array including CPE: 
              Obesity in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CPE

    (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 CPE gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cpe1 , 5 carboxypeptidase E1, 5 88.66(n)1
    96.64(a)1
      8 (32.30 cM)5
    128761  NM_013494.31  NP_038522.21 
     645925585 
    chicken
    (Gallus gallus)
    Aves CPE1 carboxypeptidase E 83.74(n)
    91.61(a)
      422424  XM_420392.4  XP_420392.3 
    lizard
    (Anolis carolinensis)
    Reptilia CPE6
    carboxypeptidase E
    93(a)
    1 ↔ 1
    GL343317.1(161017-177495)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.88362 Xenopus laevis transcribed sequence with weak similarity more 79.89(n)    CD302212.1 
    zebrafish
    (Danio rerio)
    Actinopterygii cpe1 carboxypeptidase E 74.08(n)
    82.8(a)
      407979  NM_214810.1  NP_999975.1 
    worm
    (Caenorhabditis elegans)
    Secernentea F01D4.43
    egl-211
    zinc carboxypeptidase3
    egl-211
    44(a)
    (best of 3)3
    53.81(n)1
    47.51(a)1
      IV(10478817-10481942)3
    1779401  NM_069534.61  NP_501935.11 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CPE gene
    CPZ2  CPXM22  AEBP12  CPN12  CPD2  CPM2  CPXM12  
    8 SIMAP similar genes for CPE using alignment to 5 protein entries:     CBPE_HUMAN (see all proteins):
    CPN1    CPXM1    CPXM2    CPD    CPZ    DKFZp666J235
    CPM    AEBP1

    CPE 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 CPE (see all 2582)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0360114
    A colorectal cancer sample4--see VAR_0360112 R Q mis40--------
    rs709556241,2
    C--162133047(+) AAAAA-/A/AAAA
            
    GGAAA
    1 -- int11NA 2
    rs1130154061,2
    C--166099286(+) TTGCAAAATG/
            
    AAATA
    1 -- int11Minor allele frequency- -:0.50CSA 2
    rs1387359251,2
    C--166298159(+) CCTGAA/TGAATT 1 -- us2k10--------
    rs1415367131,2
    --166298167(+) ATTCAC/TAGGGG 1 -- us2k10--------
    rs1461819931,2
    C--166298270(+) TTAGGA/GAAACA 1 -- us2k10--------
    rs1868196121,2
    --166298303(+) ACCCCC/TTGCCC 1 -- us2k10--------
    rs1921860951,2
    --166298373(+) ATAAAA/TTTTTT 1 -- us2k10--------
    rs15836451,2
    C,F,A,H--166298451(+) TACATG/ATGCCA 1 -- us2k132Minor allele frequency- A:0.42NS MN EA NA WA CSA 2991
    rs1857667381,2
    --166298756(+) GGCTTC/TCAAGG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for CPE (166282346 - 166419482 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for CPE:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv822820CNV Loss20364138
    nsv819783CNV Loss19587683
    nsv822819CNV Loss20364138

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

    (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: 114855    OMIM disorders: --

    Selected diseases for CPE (see all 32):    
    About MalaCards
    obesity with impaired prohormone processing    pulmonary neuroendocrine tumor    neuroendocrine tumor    insulinoma
    obesity, association with    paraganglioma    autoimmune hepatitis    gastroenteritis
    small cell carcinoma    obesity    alcohol dependence    anorexia nervosa
    diarrhea    pheochromocytoma    pituitary adenoma    hyperglycemia
    choroiditis    diabetes mellitus    adenoma    breast and colorectal cancer

    2 diseases from the University of Copenhagen DISEASES database for CPE:
    Diarrhea     Insulinoma

    CPE for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    Selected Novoseek inferred disease relationships for CPE gene (see all 11)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    diabetes autoimmune 54.2 7 19120309 (2), 15804058 (2), 17213576 (2), 19893254 (1)
    insulinoma 42.3 5 9870681 (2), 15163304 (1)
    diabetes mellitus insulin-dependent 28.1 1 8314014 (1)
    obesity 27.6 9 9662053 (2), 16219026 (1), 19419578 (1), 9207799 (1)
    neuroendocrine tumors 22.5 3 15492986 (2)
    aqueous humor 21.1 1 8592153 (1)
    niddm 12 3 9662053 (2), 19893254 (1)
    autoimmunity 9.4 1 9421429 (1)
    cancer lung 0 1 20040394 (1)
    glioma 0 3 1764034 (2)

    Genetic Association Database (GAD): CPE
    Human Genome Epidemiology (HuGE) Navigator: CPE (16 documents)

    Export disorders for CPE 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 CPE gene, integrated from 10 sources (see all 159):
    (articles sorted by number of sources associating them with CPE)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Human carboxypeptidase E. Isolation and characterization of the cDNA, sequence conservation, expression and processing in vitro. (PubMed id 2334405)1, 2, 3, 9 Manser E....Lim L. (Biochem. J. 1990)
    2. Molecular scanning of the human carboxypeptidase E gene for mutations in Chinese subjects with coronary atherosclerosis. (PubMed id 17957445)1, 4, 9 Jia E.Z....Ma W.Z. (Mol. Cell. Biochem. 2008)
    3. Association of the mutation for the human carboxypeptidase E gene exon 4 with the severity of coronary artery atherosclerosis. (PubMed id 18080843)1, 4, 9 Jia E.Z....Ma W.Z. (Mol. Biol. Rep. 2009)
    4. Organization of the human carboxypeptidase E gene and molecular scanning for mutations in Japanese subjects with NIDDM or obesity. (PubMed id 9662053)1, 2, 9 Utsunomiya N.... Nanjo K. (Diabetologia 1998)
    5. Association of human carboxypeptidase E exon5 gene polymorphisms with angiographical characteristics of coronary atherosclerosis in a Chinese population. (PubMed id 18501121)1, 4, 9 Wang J....Jia E.Z. (Acta Pharmacol. Sin. 2008)
    6. An N-terminal truncated carboxypeptidase E splice isoform induces tumor growth and is a biomarker for predicting future metastasis in human cancers. (PubMed id 21285511)1, 2 Lee T.K.... Loh Y.P. (J. Clin. Invest. 2011)
    7. Association study of 182 candidate genes in anorexia nervosa. (PubMed id 20468064)1, 4 Pinheiro A.P....Woodside D.B. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2010)
    8. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    9. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    10. Severe obesity is associated with novel single nucleotide polymorphisms of the ESR1 and PPARgamma locus in Han Chinese. (PubMed id 19491387)1, 4 Chen H.H....Pan W.H. (Am. J. Clin. Nutr. 2009)

    (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: 1363 HGNC: 2303 AceView: CPE Ensembl:ENSG00000109472 euGenes: HUgn1363
    ECgene: CPE Kegg: 1363 H-InvDB: CPE

    (According to HUGE)
    About This Section

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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)
    About This Section

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    NameDescription
    PharmGKB entry for CPE Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for CPE gene:
    Search GeneIP for patents involving CPE

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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