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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ENPEP Gene

protein-coding   GIFtS: 67
GCID: GC04P111286

Glutamyl Aminopeptidase (Aminopeptidase A)

Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Glutamyl Aminopeptidase (Aminopeptidase A)1 2     APA2
Aminopeptidase A2 3     CD2492
Differentiation Antigen Gp1602 3     Glutamyl Aminopeptidase2
AP-A2 3     gp1602
EAP2 3     CD249 Antigen3
EC 3.4.11.73 8     EC 3.4.118

External Ids:    HGNC: 33551   Entrez Gene: 20282   Ensembl: ENSG000001387927   OMIM: 1382975   UniProtKB: Q070753   

Export aliases for ENPEP gene to outside databases

Previous GC identifers: GC04P111803 GC04P111679 GC04P111856 GC04P111754 GC04P111397 GC04P107128


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for ENPEP Gene: 
ENPEP (glutamyl aminopeptidase (aminopeptidase A)) is a protein-coding gene. Diseases associated with ENPEP include neurogenic hypertension, and gestational choriocarcinoma, and among its related super-pathways are Metabolism of Angiotensinogen to Angiotensins and Insulin Processing. GO annotations related to this gene include metalloaminopeptidase activity and metalloendopeptidase activity. An important paralog of this gene is LNPEP.

UniProtKB/Swiss-Prot: AMPE_HUMAN, Q07075
Function: Appears to have a role in the catabolic pathway of the renin-angiotensin system. Probably plays a role
in regulating growth and differentiation of early B-lineage cells




(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000004.11  NC_018915.2  NT_016354.19  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ENPEP gene promoter:
         GR   FOXF2   FOXD3   NF-AT   HNF-1A   NF-AT4   NF-AT2   HNF-1   GR-alpha   NF-AT1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidENPEP promoter sequence
   Search SABiosciences Chromatin IP Primers for ENPEP

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ENPEP


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

Entrez Gene cytogenetic band: 4q25   Ensembl cytogenetic band:  4q25   HGNC cytogenetic band: 4q25

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

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04P111286:  view genomic region     (about GC identifiers)

Start:
111,286,889 bp from pter      End:
111,486,441 bp from pter
Size:
199,553 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: AMPE_HUMAN, Q07075 (See protein sequence)
Recommended Name: Glutamyl aminopeptidase  
Size: 957 amino acids; 109244 Da
Cofactor: Binds 1 zinc ion per subunit (By similarity)
Subunit: Homodimer; disulfide-linked
Subcellular location: Membrane; Single-pass type II membrane protein
Secondary accessions: Q504U2

Explore the universe of human proteins at neXtProt for ENPEP: NX_Q07075

Explore proteomics data for ENPEP at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q07075

  • 4/17 DME Specific Peptides for ENPEP (Q07075) (see all 17)
     WLNEGFA  GFYRVNY  GAMENWG  NAKTSDFW 

    ENPEP Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ENPEP Protein Expression
    REFSEQ proteins: NP_001968.3  
    ENSEMBL proteins: 
     ENSP00000265162   ENSP00000426265  
    Reactome Protein details: Q07075
    Human Recombinant Protein Products for ENPEP: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    R&D Systems Recombinant & Natural Proteins for ENPEP (Aminopeptidase A/ENPEP)
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for ENPEP
    OriGene Protein Over-expression Lysate for ENPEP
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    GenScript Custom Purified and Recombinant Proteins Services for ENPEP
    Novus Biologicals ENPEP Lysate
    Sino Biological Recombinant Protein for ENPEP
    Sino Biological Cell Lysate for ENPEP 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005765lysosomal membrane IDA17897319
    GO:0005886plasma membrane TAS--
    GO:0005887integral to plasma membrane NAS8244382
    GO:0005903brush border ISS--
    GO:0009897external side of plasma membrane ISS--

    ENPEP for ontologies           About GeneDecksing



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    Assay Products for ENPEP: 
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    Browse ELISAs at Cloud-Clone Corp. 
    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    CD: CD molecules

    IUPHAR Guide to PHARMACOLOGY protein family classification: Glutamyl aminopeptidase 
    Aminopeptidases

    3 InterPro protein domains:
     IPR014782 Peptidase_M1_N
     IPR024571 DUF3358
     IPR001930 Peptidase_M1

    Graphical View of Domain Structure for InterPro Entry Q07075

    ProtoNet protein and cluster: Q07075

    1 Blocks protein domain: IPB001930 Membrane alanyl dipeptidase (M1) family signature

    UniProtKB/Swiss-Prot: AMPE_HUMAN, Q07075
    Similarity: Belongs to the peptidase M1 family


    ENPEP 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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: AMPE_HUMAN, Q07075
    Function: Appears to have a role in the catabolic pathway of the renin-angiotensin system. Probably plays a role
    in regulating growth and differentiation of early B-lineage cells
    Catalytic activity: Release of N-terminal glutamate (and to a lesser extent aspartate) from a peptide

         Genatlas biochemistry entry for ENPEP:
    glutamyl aminopeptidase,homolog of murine B-lymphocyte differentiation antigen BP-1/6C3

         Enzyme Numbers (IUBMB): EC 3.4.11.71 2 EC 3.4.112

         Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004177aminopeptidase activity IDA8244382
    GO:0008233peptidase activity ----
    GO:0008237metallopeptidase activity EXP--
    GO:0008270zinc ion binding IEA--
    GO:0070006metalloaminopeptidase activity NAS8244382
         
    ENPEP for ontologies           About GeneDecksing


    Phenotypes:
         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Enpep):
     immune system 

    ENPEP for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Enpeptm1Mdc for ENPEP

       inGenious Targeting Laboratory - Custom generated mouse model solutions for ENPEP 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for ENPEP

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

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ENPEP
    8/50 QIAGEN miScript miRNA Assays for microRNAs that regulate ENPEP (see all 50):
    hsa-miR-548j hsa-miR-376b hsa-miR-548k hsa-miR-513a-5p hsa-miR-548l hsa-miR-9 hsa-miR-133a hsa-miR-3658
    SwitchGear 3'UTR luciferase reporter plasmidENPEP 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
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    Sino Biological Human cDNA Clone for ENPEP
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ENPEP
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ENPEP
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                         Customized lentivirus expression plasmids for stable overexpression of ENPEP 

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ENPEP


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for ENPEP About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Renin-angiotensin system
    Renin-angiotensin system0.43
    Metabolism of Angiotensinogen to Angiotensins0.43
    2Insulin Processing
    Peptide hormone metabolism0.39
    3Asparagine N-linked glycosylation
    Metabolism of proteins0.35

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    3        Reactome Pathways for ENPEP
        Metabolism of Angiotensinogen to Angiotensins
    Metabolism of proteins
    Peptide hormone metabolism


    1         Kegg Pathway  (Kegg details for ENPEP):
        Renin-angiotensin system


    ENPEP for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ENPEP

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    4 Interacting proteins for ENPEP (Q070753 ENSP000002651624) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    AGTP010193, ENSP000003556274I2D: score=1 STRING: ENSP00000355627
    CCKP063073, ENSP000003356574I2D: score=1 STRING: ENSP00000335657
    ANPEPENSP000003000604STRING: ENSP00000300060
    ATP6AP2ENSP000003676974STRING: ENSP00000367697
    About this table

    Gene Ontology (GO): 5/10 biological process terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001525angiogenesis ISS--
    GO:0002003angiotensin maturation TAS--
    GO:0002005angiotensin catabolic process in blood NAS19608358
    GO:0003081regulation of systemic arterial blood pressure by renin-angiotensin NAS8346219
    GO:0006508proteolysis IEA--

    ENPEP for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    ENPEP for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Enzo Life Sciences drugs & compounds for ENPEP

    Browse Tocris compounds for ENPEP (AMPE)

    2 HMDB Compounds for ENPEP    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    ZincZinc (see all 2)7440-66-6--

    1 DrugBank Compound for ENPEP    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    L-Glutamic Acid(2S)-2-Aminopentanedioic acid (see all 15)56-86-0target--7448199 11732752 17139284 17016423 8568030

    10/14 Novoseek inferred chemical compound relationships for ENPEP gene (see all 14)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    amastatin 89.8 15 8004400 (2), 10692253 (1), 12612435 (1), 2331601 (1) (see all 11)
    bestatin 65.7 2 2227802 (1)
    ang ii 63.9 11 11994381 (3), 10557335 (2), 15187414 (1), 15507845 (1)
    leucine 47.5 20 12614948 (2), 16769060 (2), 12361682 (2), 12685816 (2) (see all 10)
    losartan 40 3 10985964 (1), 18293706 (1)
    zinc 35.2 11 14674752 (1), 10653662 (1), 8550619 (1), 11724556 (1) (see all 9)
    aspartate 30.2 9 18726831 (1), 1982017 (1), 9681597 (1), 7909847 (1)
    glutamate 22.4 9 12685816 (1), 11724556 (1), 20023072 (1), 1982017 (1) (see all 6)
    sodium 16.9 6 8781481 (2), 8277502 (1), 7920260 (1), 1376904 (1)
    arginine 12.4 4 12685816 (1), 12361682 (1), 11732752 (1)

    Search CenterWatch for drugs/clinical trials and news about ENPEP / AMPE

    (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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for ENPEP gene: 
    NM_001977.3  

    Unigene Cluster for ENPEP:

    Glutamyl aminopeptidase (aminopeptidase A)
    Hs.435765  [show with all ESTs]
    Unigene Representative Sequence: NM_001977
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000510961 ENST00000265162(uc003iab.4) ENST00000509344 ENST00000502711
    ENST00000504100
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    8/50 QIAGEN miScript miRNA Assays for microRNAs that regulate ENPEP (see all 50):
    hsa-miR-548j hsa-miR-376b hsa-miR-548k hsa-miR-513a-5p hsa-miR-548l hsa-miR-9 hsa-miR-133a hsa-miR-3658
    SwitchGear 3'UTR luciferase reporter plasmidENPEP 3' UTR sequence
    Inhib. RNA
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    Additional mRNA sequence: 

    AK313412.1 AM888273.1 AM888274.1 AM888275.1 AM888276.1 AM888277.1 AM888278.1 AM888279.1 
    AM888280.1 AM888281.1 AM888282.1 AM888283.1 BC094770.1 BX641012.1 L12468.1 L14721.1 

    9 DOTS entries:

    DT.212653  DT.92427418  DT.121249716  DT.121249721  DT.75140787  DT.92427419  DT.92427420  DT.102828585 
    DT.75182340 

    24/125 AceView cDNA sequences (see all 125):

    AL548997 AU139354 BG413393 BG219862 AW139905 AA778054 AI670907 AL709252 
    AL541184 NM_001977 BU753576 AI288822 BG431081 BX641012 AW000915 BG400415 
    AW451569 BG166498 AI935775 AU100285 CF593778 AI307818 AI640493 AU077305 

    GeneLoc Exon Structure


    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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


    ENPEP expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/25 selected tissues (see all 25) fully expand
     
     Kidney (Urinary System)    fully expand to see all 11 entries
             Proximal Tubule Cells Proximal Tubule
             Metanephros
             Parietal epithelial cells (PEC)
             kidney ; cells in tubules   
             visceral organ/mesonephros of female/mesonephric mesenchyme of female mesonephros   
     
     Testis (Reproductive System)    fully expand to see all 4 entries
             Testicular Interstitial Cells Testis Interstitium
             Testis Interstitium
             epididymis ; glandular cells   
     
     Intestine (Gastrointestinal Tract)    fully expand to see all 4 entries
             small intestine ; glandular cells   
             small intestine   
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Adult Endothelial Cells Blood Brain Barrier
             Cerebral Cortex
     
     Endothelium (Cardiovascular System)    fully expand to see all 3 entries
             Adult Endothelial Cells Blood Brain Barrier
             colon ; endothelial cells   

    See ENPEP Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ENPEP

    SOURCE GeneReport for Unigene cluster: Hs.435765

    UniProtKB/Swiss-Prot: AMPE_HUMAN, Q07075
    Tissue specificity: Expressed by epithelial cells of the proximal tubule cells and the glomerulus of the nephron.
    Also found in a variety of other tissues

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ENPEP

    (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)
    About This Section

    This gene was present in the common ancestor of animals and fungi.

    Orthologs for ENPEP gene from 7/17 species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Enpep1 , 5 glutamyl aminopeptidase1, 5 80.47(n)1
    78.6(a)1
      3 (57.92 cM)5
    138091  NM_007934.31  NP_031960.11 
     1292691755 
    chicken
    (Gallus gallus)
    Aves ENPEP1 glutamyl aminopeptidase (aminopeptidase A) 69.74(n)
    68.49(a)
      428771  XM_426327.2  XP_426327.3 
    lizard
    (Anolis carolinensis)
    Reptilia ENPEP6
    Uncharacterized protein
    63(a)
    1 ↔ 1
    5(144017983-144065792)
    zebrafish
    (Danio rerio)
    Actinopterygii enpep1 glutamyl aminopeptidase 62.29(n)
    60.04(a)
      504088  NM_001199731.1  NP_001186660.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG87733
    CG324731
    glutamyl aminopeptidase3
    CG324731
    37(a)
    (best of 10)3
    49.47(n)1
    40.99(a)1
      87E43
    416361  NM_169503.21  NP_731786.11 
    worm
    (Caenorhabditis elegans)
    Secernentea Y67D8C.93   -- 32(a)
    (best of 7)
      IV(3077664-3086852)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes AAP16
    APE26
    Arginine/alanine aminopeptidase, overproduction st...
    Aminopeptidase yscII; may have a role in obtaining...
    30(a)
    28(a)
    many ↔ many
    many ↔ many
    VIII(198740-201310)
    XI(154991-158232)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ENPEP gene
    LNPEP2  ANPEP2  TRHDE2  ERAP12  AQPEP2  NPEPPS2  ERAP22  
    10 SIMAP similar genes for ENPEP using alignment to 14 protein entries:     AMPE_HUMAN (see all proteins):
    TBC1D3    NPEPPSL1    ANPEP    ERAP2    ERAP1    NPEPPS
    TRHDE    LNPEP    AQPEP    FLJ90650

    ENPEP for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for ENPEP
    PGOHUM00000242698 PGOHUM00000233313


    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1725 SNPs in ENPEP are shown (see all 1725)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0360474
    A breast cancer sample4--see VAR_0360472 R T mis40--------
    rs1839426191,2
    --111395288(+) GTTTAA/TCATAA 1 -- us2k10--------
    rs65335221,2
    C,F,H--111395523(+) TTAGGA/GTTGCT 1 -- us2k113Minor allele frequency- G:0.10NA WA CSA EA 377
    rs1884261501,2
    --111395590(+) CTTTTC/TCCTTT 1 -- us2k10--------
    rs1931679671,2
    --111395718(+) GAACCA/GTTTGA 1 -- us2k10--------
    rs37759591,2
    C,F,H--111395839(-) GCCTCC/TCAGAG 1 -- us2k123Minor allele frequency- T:0.11NS EA NA WA CSA 2173
    rs1850021081,2
    --111395971(+) CTGGGG/TAAATA 1 -- us2k10--------
    rs1430506641,2
    --111396016(+) TTATCC/TTCCTC 1 -- us2k10--------
    rs1512155971,2
    C--111396053(+) CGATCA/GTTGAT 1 -- us2k10--------
    rs1423855741,2
    C--111396069(+) ACTTT-/AAATTT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for ENPEP (111286889 - 111486441 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for ENPEP:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv507187CNV Insertion20534489
    nsv518506CNV Loss19592680
    nsv830036CNV Gain17160897

    SABiosciences Cancer Mutation PCR Assays
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    (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.)
    About This Section
    OMIM gene information: 138297    OMIM disorders: --

    20/33 diseases for ENPEP (see all 33):    About MalaCards
    neurogenic hypertension    gestational choriocarcinoma    choriocarcinoma    glanders
    cervical intraepithelial neoplasia    focal segmental glomerulosclerosis    human immunodeficiency virus infectious disease    long qt syndrome
    clear cell renal cell carcinoma    antiphospholipid syndrome    rabies    vaginitis
    renal cell carcinoma    eclampsia    pre-eclampsia    alcohol dependence
    cervicitis    hypertension    chagas disease    vaccinia

    2 diseases from the University of Copenhagen DISEASES database for ENPEP:
    Hypertension     Antiphospholipid syndrome

    ENPEP for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/16 Novoseek inferred disease relationships for ENPEP gene (see all 16)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    choriocarcinoma 43.3 12 10692253 (5), 12915695 (3), 11718570 (1)
    systemic hypertension 36.3 1 18206321 (1)
    preeclampsia 34.8 2 15893965 (1), 10985964 (1)
    neoplastic transformation 32.9 5 10838501 (4)
    renal cancer 32.6 2 16985214 (1), 9664120 (1)
    glomerulosclerosis 29.9 4 18206321 (2)
    carcinoma renal cell 24.1 2 9486416 (1), 8346219 (1)
    cervical intraepithelial neoplasia 19.2 2 15048132 (1)
    neovascularization 5.3 2 8869294 (2)
    carcinoma squamous cell 0 2 15048132 (1)

    Genetic Association Database (GAD): ENPEP
    Human Genome Epidemiology (HuGE) Navigator: ENPEP (3 documents)

    Export disorders for ENPEP 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)
    About This Section

    PubMed articles for ENPEP gene, integrated from 9 sources (see all 148):
    (articles sorted by number of sources associating them with ENPEP)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning of the human kidney differentiation antigen gp160: human aminopeptidase A. (PubMed id 8346219)1, 2, 9 Nanus D.M.... Albino A.P. (1993)
    2. cDNA cloning and expression of human glutamyl aminopeptidase (aminopeptidase A). (PubMed id 8244382)1, 2, 9 Li L.... Cooper M.D. (1993)
    3. High-resolution genetic map of the human glutamyl aminopeptidase gene (ENPEP). (PubMed id 9268642)1, 3, 9 Li L....Cooper M.D. (1997)
    4. Functional genetic variation in aminopeptidase A (ENPEP): lack of clear association with focal and segmental glomerulosclerosis (FSGS). (PubMed id 18206321)1, 4, 9 Tonna S....Pollak M.R. (2008)
    5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    6. A systematic gene-based screen of chr4q22-q32 identif ies association of a novel susceptibility gene, DKK2, with the quantitative tra it of alcohol dependence symptom counts. (PubMed id 20332099)1, 4 Kalsi G....Riley B.P. (2010)
    7. Variants conferring risk of atrial fibrillation on chromosome 4q25. (PubMed id 17603472)1, 4 Gudbjartsson D.F....Stefansson K. (2007)
    8. Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry. (PubMed id 16335952)1, 2 Liu T.... Smith R.D. (2005)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    10. Regulation of aminopeptidase A expression in cervical carcinoma: role of tumor-stromal interaction and vascular endothelial growth factor. (PubMed id 15048132)1, 9 Suganuma T....Mizutani S. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 2028 HGNC: 3355 AceView: ENPEP Ensembl:ENSG00000138792 euGenes: HUgn2028
    ECgene: ENPEP Kegg: 2028 H-InvDB: ENPEP

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for ENPEP Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for ENPEP Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for ENPEP gene:
    Search GeneIP for patents involving ENPEP

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



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    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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