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

TMPRSS15 Gene

protein-coding   GIFtS: 55
GCID: GC21M019641

Transmembrane Protease, Serine 15

(Previous names: protease, serine, 7 (enterokinase))
(Previous symbol: PRSS7)
  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
Transmembrane Protease, Serine 151 2     EC 3.4.21.93 8
PRSS71 2 3 5     proenterokinase1
ENTK2 3 5     enterokinase2
Protease, Serine, 7 (Enterokinase)1 2     Enterokinase3
enteropeptidase1 2     Transmembrane Protease Serine 153
Serine Protease 72 3     EC 3.4.218

External Ids:    HGNC: 94901   Entrez Gene: 56512   Ensembl: ENSG000001546467   OMIM: 6066355   UniProtKB: P980733   

Export aliases for TMPRSS15 gene to outside databases

Previous GC identifer: GC21M005029


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

Entrez Gene summary for TMPRSS15 Gene:
This gene encodes an enzyme that converts the pancreatic proenzyme trypsinogen to trypsin, which activates other
proenzymes including chymotrypsinogen and procarboxypeptidases. The precursor protein is cleaved into two chains
that form a heterodimer linked by a disulfide bond. This protein is a member of the trypsin family of peptidases.
Mutations in this gene cause enterokinase deficiency, a malabsorption disorder characterized by diarrhea and
failure to thrive. (provided by RefSeq, Jul 2008)

GeneCards Summary for TMPRSS15 Gene: 
TMPRSS15 (transmembrane protease, serine 15) is a protein-coding gene. Diseases associated with TMPRSS15 include enterokinase deficiency, and hymenolepiasis. GO annotations related to this gene include scavenger receptor activity and serine-type endopeptidase activity. An important paralog of this gene is TMPRSS11D.

UniProtKB/Swiss-Prot: ENTK_HUMAN, P98073
Function: Responsible for initiating activation of pancreatic proteolytic proenzymes (trypsin, chymotrypsin and
carboxypeptidase A). It catalyzes the conversion of trypsinogen to trypsin which in turn activates other
proenzymes including chymotrypsinogen, procarboxypeptidases, and proelastases




(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_000021.8  NC_018932.2  NT_011512.11  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for TMPRSS15
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTMPRSS15 promoter sequence
   Search SABiosciences Chromatin IP Primers for TMPRSS15

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TMPRSS15


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

Entrez Gene cytogenetic band: 21q21.1   Ensembl cytogenetic band:  21q21.1   HGNC cytogenetic band: 21q21

TMPRSS15 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TMPRSS15 gene location

GeneLoc information about chromosome 21         GeneLoc Exon Structure

GeneLoc location for GC21M019641:  view genomic region     (about GC identifiers)

Start:
19,641,433 bp from pter      End:
19,858,197 bp from pter
Size:
216,765 bases      Orientation:
minus 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: ENTK_HUMAN, P98073 (See protein sequence)
Recommended Name: Enteropeptidase precursor  
Size: 1019 amino acids; 112935 Da
Subunit: Heterodimer of a catalytic (light) chain and a multidomain (heavy) chain linked by a disulfide bond
Subcellular location: Membrane; Single-pass type II membrane protein (Probable)
Sequence caution: Sequence=CAB90389.1; Type=Erroneous gene model prediction;
1 PDB 3D structure from and Proteopedia for TMPRSS15:
4DGJ (3D)    
Secondary accessions: Q2NKL7

Explore the universe of human proteins at neXtProt for TMPRSS15: NX_P98073

Explore proteomics data for TMPRSS15 at MOPED 

Post-translational modifications:

  • UniProtKB: The chains are derived from a single precursor that is cleaved by a trypsin-like protease
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P98073

  • 4/12 DME Specific Peptides for TMPRSS15 (P98073) (see all 12)
     CPDGSDE  SNLTSPQ  GDSGGPL  PEYNITE 

    TMPRSS15 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    TMPRSS15 Protein Expression
    REFSEQ proteins: NP_002763.2  
    ENSEMBL proteins: 
     ENSP00000284885   ENSP00000398253   ENSP00000474811  

    Human Recombinant Protein Products for TMPRSS15: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    R&D Systems Recombinant & Natural Proteins for TMPRSS15 (Enteropeptidase/Enterokinase)
    Browse recombinant and purified proteins available from Enzo Life Sciences
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    OriGene Protein Over-expression Lysate for TMPRSS15
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    Novus Biologicals TMPRSS15 Protein
    Novus Biologicals TMPRSS15 Lysate
    Sino Biological Recombinant Protein for TMPRSS15
    Browse Sino Biological Cell Lysates 
    ProSpec Recombinant Protein for TMPRSS15
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005903brush border TAS8052624
    GO:0016020membrane ----
    GO:0016021integral to membrane IEA--

    TMPRSS15 for ontologies           About GeneDecksing



    TMPRSS15 Antibody Products: 
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    LSBio Antibodies in human, mouse, rat for TMPRSS15 

    Assay Products for TMPRSS15: 
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    TMPRSS: Serine peptidases / Transmembrane

    5/12 InterPro protein domains (see all 12):
     IPR000859 CUB_dom
     IPR002172 LDrepeatLR_classA_rpt
     IPR001314 Peptidase_S1A
     IPR001190 Srcr_rcpt
     IPR023415 LDLR_class-A_CS

    Graphical View of Domain Structure for InterPro Entry P98073

    ProtoNet protein and cluster: P98073

    5/7 Blocks protein domains (see all 7):
    IPB000082 SEA domain
    IPB000859 CUB domain
    IPB000998 MAM domain signature
    IPB001190 Speract/scavenger receptor
    IPB001254 Serine protease


    UniProtKB/Swiss-Prot: ENTK_HUMAN, P98073
    Similarity: Belongs to the peptidase S1 family
    Similarity: Contains 2 CUB domains
    Similarity: Contains 2 LDL-receptor class A domains
    Similarity: Contains 1 MAM domain
    Similarity: Contains 1 peptidase S1 domain
    Similarity: Contains 1 SEA domain
    Similarity: Contains 1 SRCR domain


    TMPRSS15 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: ENTK_HUMAN, P98073
    Function: Responsible for initiating activation of pancreatic proteolytic proenzymes (trypsin, chymotrypsin and
    carboxypeptidase A). It catalyzes the conversion of trypsinogen to trypsin which in turn activates other
    proenzymes including chymotrypsinogen, procarboxypeptidases, and proelastases
    Catalytic activity: Activation of trypsinogen by selective cleavage of 6-Lys- -Ile-7 bond

         Enzyme Numbers (IUBMB): EC 3.4.21.91 2 EC 3.4.212

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0004252serine-type endopeptidase activity IEA--
    GO:0005044scavenger receptor activity IEA--
    GO:0005515protein binding ----
         
    TMPRSS15 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for TMPRSS15:
     Increased mitotic index 

         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Tmprss15):
     homeostasis/metabolism 

    TMPRSS15 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for TMPRSS15 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for TMPRSS15

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TMPRSS15 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for TMPRSS15 

    miRNA
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    3 QIAGEN miScript miRNA Assays for microRNAs that regulate TMPRSS15:
    hsa-miR-579 hsa-miR-466 hsa-miR-664
    SwitchGear 3'UTR luciferase reporter plasmidTMPRSS15 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector: TMPRSS15 (NM_002772)
    Sino Biological Human cDNA Clone for TMPRSS15
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TMPRSS15
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TMPRSS15
    Sirion Biotech Customized lentivirus for stable overexpression of TMPRSS15 
                         Customized lentivirus expression plasmids for stable overexpression of TMPRSS15 

    Cell Line
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    Search LifeMap BioReagents cell lines for TMPRSS15
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TMPRSS15


    (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




    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for TMPRSS15

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for TMPRSS15 (P980733 ENSP000002848854) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SPINK1P009953, ENSP000002966954I2D: score=1 STRING: ENSP00000296695
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006508proteolysis IEA--

    TMPRSS15 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

    TMPRSS15 for compounds           About GeneDecksing

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

    Browse Tocris compounds for TMPRSS15 (ENTK)

    10/19 Novoseek inferred chemical compound relationships for TMPRSS15 gene (see all 19)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    trypsinogen 92.2 62 15970597 (4), 7547882 (2), 7503430 (2), 7718557 (2) (see all 34)
    imac 66 3 10486130 (1), 10201111 (1), 10194406 (1)
    chymotrypsinogen 63.9 2 16797260 (1), 8511507 (1)
    hbd2 60.6 2 16599550 (1), 17177327 (1)
    serine 56.7 20 19566868 (2), 7718557 (2), 19482641 (2), 17097793 (1) (see all 13)
    iptg 56.3 1 11751393 (1)
    histidine 52.8 9 10486130 (1), 10649231 (1), 11753928 (1), 10201111 (1) (see all 9)
    aprotinin 35.4 1 17623652 (1)
    taurocholate 19.1 2 12371983 (1), 11445702 (1)
    nad+ 4.12 1 10933785 (1)

    Search CenterWatch for drugs/clinical trials and news about TMPRSS15 / ENTK

    (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 TMPRSS15 gene: 
    NM_002772.2  

    Unigene Cluster for TMPRSS15:

    Transmembrane protease, serine 15
    Hs.149473  [show with all ESTs]
    Unigene Representative Sequence: NM_002772
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000284885(uc002ykw.3) ENST00000422787 ENST00000474775
    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TMPRSS15
    3 QIAGEN miScript miRNA Assays for microRNAs that regulate TMPRSS15:
    hsa-miR-579 hsa-miR-466 hsa-miR-664
    SwitchGear 3'UTR luciferase reporter plasmidTMPRSS15 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for TMPRSS15
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    OriGene ORF clones in mouse, rat for TMPRSS15
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    GenScript: all cDNA clones in your preferred vector: TMPRSS15 (NM_002772)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TMPRSS15
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TMPRSS15
    Sirion Biotech Customized lentivirus for stable overexpression of TMPRSS15 
                         Customized lentivirus expression plasmids for stable overexpression of TMPRSS15 
    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TMPRSS15
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TMPRSS15

    Additional mRNA sequence: 

    BC111749.1 U09860.1 

    1 DOTS entry:

    DT.40106363 

    13 AceView cDNA sequences:

    U09860 NM_002772 BM015908 BG574802 BX283646 BF244418 BF244497 BE737932 
    AI279666 BF215992 BF687527 BF219079 BU431045 

    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

    TMPRSS15 expression in normal human tissues (normalized intensities)      TMPRSS15 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAAATTAAGT
    TMPRSS15 Expression
    About this image


    TMPRSS15 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/2 selected tissues (see all 2) fully expand
     
     Intestine (Gastrointestinal Tract)    fully expand to see all 2 entries
             small intestine   
     
     Kidney (Urinary System)
             Metanephros

    See TMPRSS15 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TMPRSS15

    SOURCE GeneReport for Unigene cluster: Hs.149473

    UniProtKB/Swiss-Prot: ENTK_HUMAN, P98073
    Tissue specificity: Intestinal brush border

        SABiosciences Custom PCR Arrays for TMPRSS15
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TMPRSS15

    (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 chordates.

    Orthologs for TMPRSS15 gene from 4/9 species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tmprss151 , 5 transmembrane protease, serine 151, 5 80.21(n)1
    75.17(a)1
      16 (45.41 cM)5
    191461  NM_008941.21  NP_032967.11 
     789530085 
    chicken
    (Gallus gallus)
    Aves TMPRSS151 transmembrane protease, serine 15 66.21(n)
    58.28(a)
      427967  XM_425539.3  XP_425539.3 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    --
    68(a)
    56(a)
    1 ↔ many
    1 ↔ many
    3(153439970-153445140)
    3(153355496-153428363)
    zebrafish
    (Danio rerio)
    Actinopterygii tmprss151 transmembrane protease, serine 15 55.15(n)
    49.3(a)
      100148042  XM_001919604.1  XP_001919639.1 


    ENSEMBL Gene Tree for TMPRSS15 (if available)
    TreeFam Gene Tree for TMPRSS15 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for TMPRSS15 gene
    TMPRSS11D2  TMPRSS32  TMPRSS11B2  TMPRSS62  TMPRSS11A2  TMPRSS72  TMPRSS52  TMPRSS42  
    ST142  TMPRSS132  TMPRSS11E2  TMPRSS22  KLKB12  F112  HPN2  TMPRSS11F2  
    18/79 SIMAP similar genes for TMPRSS15 using alignment to 2 protein entries:     ENTK_HUMAN (see all proteins) (see all similar genes):
    PRSS7    KLK13    PRSS1    DKFZp586F0824    TMPRSS11F    CELA2B
    DKFZp779M0222    TMPRSS11A    F9    CTRB2    GZMK    HP
    NRP1    PRSS22    CTRB1    CTRL    DESC1    TMPRSS11D

    TMPRSS15 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) 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

    10/3136 SNPs in TMPRSS15 are shown (see all 3136)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 21 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs772006261,2
    C,Fpathogenic110239672(+) CATTTG/CAAATC 2 /S /* stg12Minor allele frequency- C:0.00NA 4670
    VAR_0316894
    ----see VAR_0316892 P S mis40--------
    rs1841066791,2
    --5029102(+) GCATTC/TGTCCA 1 -- ds50010--------
    rs81278781,2
    C,F--5029103(+) CATTCG/ATCCAT 1 -- ds50012Minor allele frequency- A:0.10WA 120
    rs1995879451,2
    C--5029105(+) TCGTC-/CATCATCA 1 -- cds10--------
    rs1880653341,2
    --5029122(+) CACACC/TTTCTT 1 -- ds50010--------
    rs110886721,2
    C,F,A,H--5029232(+) ACAGTA/GGATCC 1 -- ds500124Minor allele frequency- G:0.21NS EA NA WA CSA 2658
    rs15698351,2
    C,F,O,A,H--5029301(-) TGGAAT/GAAAGG 1 -- ds500117Minor allele frequency- G:0.21NS EA WA NA CSA 2222
    rs1412469111,2
    C--5029357(+) CCTTA-/CTCT  
            
    CTCTC
    1 -- ds50010--------
    rs347339911,2
    C--5029365(+) TCTCT-/C/CTCT
            
    TCTAT
    1 -- ds50010--------

    HapMap Linkage Disequilibrium report for TMPRSS15 (19641433 - 19858197 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/15 variations for TMPRSS15 (see all 15):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2723212CNV Deletion23290073
    esv1470738CNV Deletion17803354
    esv2657867CNV Deletion23128226
    esv1003839CNV Deletion20482838
    nsv187307CNV Insertion16902084
    nsv3470CNV Insertion18451855
    nsv522760CNV Loss19592680
    nsv518906CNV Loss19592680
    nsv913433CNV Loss21882294
    nsv913434CNV Loss21882294


    Human Gene Mutation Database (HGMD): TMPRSS15
    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: 606635   
    OMIM disorders: 226200  
    UniProtKB/Swiss-Prot: ENTK_HUMAN, P98073
  • Enterokinase deficiency (ENTKD) [MIM:226200]: Life-threatening intestinal malabsorption disorder
    characterized by diarrhea and failure to thrive. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • 19 diseases for TMPRSS15:    About MalaCards
    enterokinase deficiency    hymenolepiasis    diarrhea    steatorrhea
    pancreatic diseases    alcoholic pancreatitis    exocrine pancreatic insufficiency    hereditary pancreatitis
    pancreatitis    acute pancreatitis    celiac disease    duodenitis
    fibrosarcoma    alcoholism    gastric cancer    influenza
    leukemia    breast cancer    prostatitis

    2 diseases from the University of Copenhagen DISEASES database for TMPRSS15:
    Pancreatitis     Hymenolepiasis

    TMPRSS15 for disorders           About GeneDecksing

    10/13 Novoseek inferred disease relationships for TMPRSS15 gene (see all 13)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    enteropeptidase deficiency 94.6 9 11719902 (4), 8208733 (2), 11467662 (2), 9645159 (1)
    pancreatitis 49.1 5 12371983 (1), 11445702 (1), 10691375 (1), 10722028 (1)
    steatorrhea 38.4 1 8208733 (1)
    chronic pancreatitis 36.4 3 10722028 (1), 2068865 (1), 19482641 (1)
    acute pancreatitis 35.5 1 8208733 (1)
    pancreatic diseases 22.5 1 2068865 (1)
    reflux 17.9 5 8208733 (1), 19734625 (1), 20007078 (1), 10722028 (1) (see all 5)
    carcinoma squamous cell 0 1 18062964 (1)
    necrosis 0 1 9706704 (1)
    gastric cancer 0 1 10348909 (1)

    Genetic Association Database (GAD): TMPRSS15
    Human Genome Epidemiology (HuGE) Navigator: TMPRSS15 (0 documents)

    Export disorders for TMPRSS15 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 TMPRSS15 gene, integrated from 9 sources (see all 158):
    (articles sorted by number of sources associating them with TMPRSS15)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Enterokinase, the initiator of intestinal digestion, is a mosaic protease composed of a distinctive assortment of domains. (PubMed id 8052624)1, 2, 3, 9 Kitamoto Y.... Sadler J.E. (1994)
    2. Mutations in the proenteropeptidase gene are the molecular cause of congenital enteropeptidase deficiency. (PubMed id 11719902)1, 2, 9 Holzinger A.... Roscher A.A. (2002)
    3. cDNA sequence and chromosomal localization of human enterokinase, the proteolytic activator of trypsinogen. (PubMed id 7718557)1, 2, 9 Kitamoto Y.... Sadler J.E. (1995)
    4. Crystal structure of a supercharged variant of the human enteropeptidase light chain. (PubMed id 22488687)1, 2 Simeonov P.... Zuchner T. (2012)
    5. 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)
    6. The DNA sequence of human chromosome 21. (PubMed id 10830953)1, 2 Hattori M....Yaspo M.L. (2000)
    7. Intracellular co-localization of trypsin-2 and matrix metalloprotease-9: possible proteolytic cascade of trypsin-2, MMP-9 and enterokinase in carcinoma. (PubMed id 18062964)1, 9 Vilen S.T....Salo T. (2008)
    8. Keratinocytes synthesize enteropeptidase and multiple forms of trypsinogen during terminal differentiation. (PubMed id 19924134)1, 9 Nakanishi J....Hibino T. (2010)
    9. Expression of enteropeptidase in differentiated enterocytes, goblet cells, and the tumor cells in human duodenum. (PubMed id 12907431)1, 9 Imamura T. and Kitamoto Y. (2003)
    10. Genetic variants associated with disordered eating. (PubMed id 23568457)1 Wade T.D....Martin N.G. (2013)

    (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: 5651 HGNC: 9490 AceView: PRSS7 Ensembl:ENSG00000154646 euGenes: HUgn5651
    ECgene: TMPRSS15 H-InvDB: TMPRSS15

    (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 TMPRSS15 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for TMPRSS15 gene:
    Search GeneIP for patents involving TMPRSS15

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



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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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