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TMPRSS4 Gene

protein-coding   GIFtS: 56
GCID: GC11P117949

Transmembrane Protease, Serine 4

  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)
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Aliases
Transmembrane Protease, Serine 41 2     TMPRSS32 3
Membrane-Type Serine Protease 21 2 3     Transmembrane Protease Serine 42
Transmembrane Serine Protease 31 2     EC 3.4.21.-3
Type II Membrane Serine Protease1 2     EC 3.4.218
Channel-Activating Protease 22 3     EC 3.4.21.48
CAPH22 3     EC 3.4.21.438
MT-SP22 3     

External Ids:    HGNC: 118781   Entrez Gene: 566492   Ensembl: ENSG000001376487   OMIM: 6065655   UniProtKB: Q9NRS43   

Export aliases for TMPRSS4 gene to outside databases

Previous GC identifers: GC11P120304 GC11P119459 GC11P117981 GC11P117485 GC11P117452 GC11P113881


(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 TMPRSS4 Gene:
This gene encodes a member of the serine protease family. Serine proteases are known to be involved in a variety
of biological processes, whose malfunction often leads to human diseases and disorders. This gene was identified
as a gene overexpressed in pancreatic carcinoma. The encoded protein is membrane bound with a N-terminal anchor
sequence and a glycosylated extracellular region containing the serine protease domain. Multiple transcript
variants encoding different isoforms have been found for this gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for TMPRSS4 Gene:
TMPRSS4 (transmembrane protease, serine 4) is a protein-coding gene. Diseases associated with TMPRSS4 include autosomal recessive cerebral atrophy, and nonsyndromic deafness. 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: TMPS4_HUMAN, Q9NRS4
Function: Probable protease. Seems to be capable of activating ENaC (By similarity)




(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_000011.10  NT_033899.9  NC_018922.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the TMPRSS4 gene promoter:
         GR   AML1a   Lmo2   POU3F2   C/EBPalpha   CHOP-10   CREB   deltaCREB   GR-alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTMPRSS4 promoter sequence
   Search Chromatin IP Primers for TMPRSS4

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TMPRSS4


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

Entrez Gene cytogenetic band: 11q23.3   Ensembl cytogenetic band:  11q23.3   HGNC cytogenetic band: 11q23.3

TMPRSS4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TMPRSS4 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P117949:  view genomic region     (about GC identifiers)

Start:
117,947,727 bp from pter      End:
117,992,605 bp from pter
Size:
44,879 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: TMPS4_HUMAN, Q9NRS4 (See protein sequence)
Recommended Name: Transmembrane protease serine 4  
Size: 437 amino acids; 48246 Da
Sequence caution: Sequence=AAF31436.1; Type=Frameshift; Positions=31;
Secondary accessions: A8MU84 B0YJB0 Q5XKQ6 Q6UX37 Q9NZA5
Alternative splicing: 3 isoforms:  Q9NRS4-1   Q9NRS4-2   Q9NRS4-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for TMPRSS4: NX_Q9NRS4

Explore proteomics data for TMPRSS4 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn130, Asn178
  • Selected DME Specific Peptides for TMPRSS4 (Q9NRS4) (see all 8)
     GDSGGPL  PWQVSIQ  PGVYTKV  LTAAHCF 


    See TMPRSS4 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (6 alternative transcripts): 
    NP_001077416.1  NP_001167022.1  NP_001167023.1  NP_001277023.1  NP_001277025.1  NP_063947.1  

    ENSEMBL proteins: 
     ENSP00000435184   ENSP00000429889   ENSP00000428814   ENSP00000429209   ENSP00000431062  
     ENSP00000416037   ENSP00000430547   ENSP00000428407   ENSP00000429833   ENSP00000428246  

    TMPRSS4 Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    TMPRSS: Serine peptidases / Transmembrane

    Selected InterPro protein domains (see all 7):
     IPR002172 LDrepeatLR_classA_rpt
     IPR001314 Peptidase_S1A
     IPR001190 SRCR
     IPR009003 Trypsin-like_Pept_dom
     IPR017448 Srcr_rcpt-rel

    Graphical View of Domain Structure for InterPro Entry Q9NRS4

    ProtoNet protein and cluster: Q9NRS4

    3 Blocks protein domains:
    IPB001254 Serine protease
    IPB001314 Chymotrypsin serine protease family (S1) signature
    IPB002172 Low density lipoprotein-receptor


    UniProtKB/Swiss-Prot: TMPS4_HUMAN, Q9NRS4
    Similarity: Belongs to the peptidase S1 family
    Similarity: Contains 1 LDL-receptor class A domain
    Similarity: Contains 1 peptidase S1 domain
    Similarity: Contains 1 SRCR domain


    TMPRSS4 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: TMPS4_HUMAN, Q9NRS4
    Function: Probable protease. Seems to be capable of activating ENaC (By similarity)

         Enzyme Numbers (IUBMB): EC 3.4.21.432 EC 3.4.21.42 EC 3.4.212 EC 3.4.21.-1

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0004252serine-type endopeptidase activity NAS10825129
    GO:0005044scavenger receptor activity IEA--
    GO:0005515protein binding ----
         
    TMPRSS4 for ontologies           About GeneDecksing


    Phenotypes:
         1 MGI phenotypic allele for Tmprss4 (no phenotypes)

    TMPRSS4 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Tmprss4tm1Lex for TMPRSS4

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for TMPRSS4
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TMPRSS4
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for TMPRSS4

    miRNA
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    Block miRNA regulation of human, mouse, rat TMPRSS4 using miScript Target Protectors
    4 qRT-PCR Assays for microRNAs that regulate TMPRSS4:
    hsa-miR-345 hsa-miR-769-5p hsa-miR-2116 hsa-miR-4277
    SwitchGear 3'UTR luciferase reporter plasmidTMPRSS4 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Predesigned siRNA for gene silencing in human, mouse, rat TMPRSS4

    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 4): TMPRSS4 (NM_019894)
    Sino Biological Human cDNA Clone for TMPRSS4
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TMPRSS4

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for TMPRSS4 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TMPRSS4


    (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
    TMPS4_HUMAN, Q9NRS4: Membrane; Single-pass type II membrane protein (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane3
    cytosol1
    nucleus1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016020membrane ----
    GO:0016021integral component of membrane NAS10825129

    TMPRSS4 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 TMPRSS4 About    
    See pathways by source

    SuperPathContained pathways About
    1Influenza A
    Influenza A0.34

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways




    1 Kegg Pathway  (Kegg details for TMPRSS4):
        Influenza A


    TMPRSS4 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for TMPRSS4
    Interactions:

        Search GeneGlobe Interaction Network for TMPRSS4

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006508proteolysis NAS10825129

    TMPRSS4 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 TMPRSS4 (TMPS4)



    (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 TMPRSS4 gene (7 alternative transcripts): 
    NM_001083947.1  NM_001173551.1  NM_001173552.1  NM_001290094.1  NM_001290096.1  NM_019894.3  NM_183247.1  

    Unigene Cluster for TMPRSS4:

    Transmembrane protease, serine 4
    Hs.161985  [show with all ESTs]
    Unigene Representative Sequence: NM_019894
    18 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000519126 ENST00000534111(uc021qrd.1 uc009yzu.3 uc021qre.1 uc010rxo.2 uc010rxs.2 uc010rxq.2 uc010rxr.2)
    ENST00000519236 ENST00000522307 ENST00000523251 ENST00000517483 ENST00000437212(uc010rxt.2)
    ENST00000522824 ENST00000522151 ENST00000520063 ENST00000522462 ENST00000517544
    ENST00000519813 ENST00000528118 ENST00000518413 ENST00000518610 ENST00000524218
    ENST00000523770
    miRNA
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    Block miRNA regulation of human, mouse, rat TMPRSS4 using miScript Target Protectors
    4 qRT-PCR Assays for microRNAs that regulate TMPRSS4:
    hsa-miR-345 hsa-miR-769-5p hsa-miR-2116 hsa-miR-4277
    SwitchGear 3'UTR luciferase reporter plasmidTMPRSS4 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for TMPRSS4
    Predesigned siRNA for gene silencing in human, mouse, rat TMPRSS4
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 4): TMPRSS4 (NM_019894)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TMPRSS4
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TMPRSS4
    Primer
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    OriGene qPCR primer pairs and template standards for TMPRSS4
    OriGene qSTAR qPCR primer pairs in human, mouse for TMPRSS4
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat TMPRSS4
      QuantiTect SYBR Green Assays in human, mouse, rat TMPRSS4
      QuantiFast Probe-based Assays in human, mouse, rat TMPRSS4

    Additional mRNA sequence: 

    AF179224.1 AF216312.1 AK172766.1 AK290361.1 AK296855.1 AK303173.1 AK304113.1 AK304215.1 
    AK308434.1 AK311290.1 AY358530.1 BC011703.2 BC012752.2 

    12 DOTS entries:

    DT.214418  DT.101982925  DT.70105294  DT.70104488  DT.99996946  DT.100785494  DT.91996667  DT.100000314 
    DT.120714941  DT.303382  DT.91718653  DT.91719449 

    Selected AceView cDNA sequences (see all 166):

    AA862082 CB142529 BM763697 AW008897 AI380247 BM830553 BM788163 BU157248 
    CB159713 BM772754 BM837092 BM772743 CA311909 BM788452 AI002848 AA481473 
    BM772620 BF939608 BU608684 BM773306 D31382 AW000937 BU676001 AA906335 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for TMPRSS4 (see all 7)    About this scheme

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


    ECgene alternative splicing isoforms for TMPRSS4

    (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)
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    TMPRSS4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGGTGGGCAT
    TMPRSS4 Expression
    About this image


    TMPRSS4 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Gut Tube (Gastrointestinal Tract)    fully expand to see all 3 entries
             Hindgut
     
     Colon (Gastrointestinal Tract)
     
     Esophagus (Gastrointestinal Tract)
    TMPRSS4 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TMPRSS4 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.161985

    UniProtKB/Swiss-Prot: TMPS4_HUMAN, Q9NRS4
    Tissue specificity: High levels in pancreatic, gastric, colorectal and ampullary cancer. Very weak expression in
    normal gastrointestinal and urogenital tract

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TMPRSS4

    (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 TMPRSS4 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tmprss41 , 5 transmembrane protease, serine 41, 5 81.61(n)1
    77.24(a)1
      9 (24.84 cM)5
    2145231  NM_145403.21  NP_663378.11 
     451727265 
    chicken
    (Gallus gallus)
    Aves TMPRSS41 transmembrane protease, serine 4 63.19(n)
    54.4(a)
      770454  XM_001233788.3  XP_001233789.3 
    lizard
    (Anolis carolinensis)
    Reptilia TMPRSS46
    transmembrane protease, serine 4
    47(a)
    1 ↔ 1
    GL343767.1(162598-171477)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia tmprss41 transmembrane protease, serine 4 50.87(n)
    43.64(a)
      733869  NM_001045609.1  NP_001039074.1 
    zebrafish
    (Danio rerio)
    Actinopterygii tmprss4a1 transmembrane protease, serine 4a 49.31(n)
    41.61(a)
      777630  NM_001077738.1  NP_001071206.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG180653
    lambdaTry1
    lambdaTry1 41(a)
    (best of 10)3
    47.06(n)1
    40.34(a)1
      362141  NM_136829.41  NP_610673.11 


    ENSEMBL Gene Tree for TMPRSS4 (if available)
    TreeFam Gene Tree for TMPRSS4 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for TMPRSS4 gene
    TMPRSS11D2  TMPRSS32  TMPRSS11B2  TMPRSS62  TMPRSS11A2  TMPRSS72  TMPRSS52  ST142  
    TMPRSS132  TMPRSS11E2  KLKB12  TMPRSS22  F112  HPN2  TMPRSS152  TMPRSS11F2  
    Selected SIMAP similar genes for TMPRSS4 using alignment to 8 protein entries:     TMPS4_HUMAN (see all proteins) (see all similar genes):
    DKFZp586F0824    TMPRSS11D    PRSS1    CELA2B    PRSS46    DKFZp779M0222
    HP    KLKB1    PROC1    TPSG1    PROC    DESC1
    PRSS21    PRSS41    TMPRSS11E    TRY8    PRSS45    TMPRSS2

    TMPRSS4 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 TMPRSS4 (see all 1175)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs349979881,2
    C--113892753(+) TTCCTG/-CTGCC 4 -- int11Minor allele frequency- -:0.50NA 2
    rs340558511,2
    C--113896069(+) CCCAT-/CCTGGT 4 -- int12Minor allele frequency- C:0.25NA 4
    rs562221601,2
    C--113898183(+) CCCCC-/C/CC  
            
    AATGG
    4 -- int11NA 2
    rs122231101,2
    F--113901188(+) gaaagG/Aaagaa 4 -- int1 trp33Minor allele frequency- A:0.50NA 6
    rs122259361,2
    C--113901194(+) aagaaA/Ggaaag 4 -- int1 trp32Minor allele frequency- G:0.17NA 6
    rs112167411,2
    F,A--113901200(+) GAAAGA/GAGGAA 4 -- int1 trp32Minor allele frequency- G:0.33NA 6
    rs108922131,2
    C--113901202(+) AAGAAA/GGAAAG 4 -- int1 trp32Minor allele frequency- G:0.17NA 6
    rs122231151,2
    A--113901249(+) aaagaA/Gagaaa 4 -- int10--------
    rs612487651,2
    C--113901259(+) AGAAA-/AG/G  
            
    GAAAG
    4 -- int10--------
    rs112167421,2
    C--113901265(+) AAAGAA/GAGGGA 4 -- int10--------

    HapMap Linkage Disequilibrium report for TMPRSS4 (117947727 - 117992605 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for TMPRSS4:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2745122CNV Deletion23290073
    nsv509444CNV Insertion20534489
    nsv515768CNV Loss19592680
    esv275347CNV Loss21479260
    dgv1318n71CNV Gain21882294
    nsv468878CNV Gain19166990

    Human Gene Mutation Database (HGMD): TMPRSS4
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing TMPRSS4
    DNA2.0 Custom Variant and Variant Library Synthesis for TMPRSS4

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 606565    OMIM disorders: --

    8 diseases for TMPRSS4:    
    About MalaCards
    autosomal recessive cerebral atrophy    nonsyndromic deafness    pancreatitis    influenza
    hypoxia    pancreatic cancer    lung cancer    hepatocellular carcinoma

    1 disease from the University of Copenhagen DISEASES database for TMPRSS4:
    Nonsyndromic deafness

    TMPRSS4 for disorders           About GeneDecksing

    Genetic Association Database (GAD): TMPRSS4

    Export disorders for TMPRSS4 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 TMPRSS4 gene, integrated from 10 sources (see all 21):
    (articles sorted by number of sources associating them with TMPRSS4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A novel transmembrane serine protease (TMPRSS3) overexpressed in pancreatic cancer. (PubMed id 10825129)1, 2, 3, 9 Wallrapp C.... Gress T.M. (Cancer Res. 2000)
    2. 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. (Genome Res. 2004)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    4. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)1, 2 Clark H.F.... Gray A.M. (Genome Res. 2003)
    5. Prognostic significance of TMPRSS4 in gastric cancer. (PubMed id 24299317)1 Sheng H....Deng L. (Neoplasma 2013)
    6. Prognostic value of TMPRSS4 expression in patients with breast cancer. (PubMed id 23420063)1 Liang B....Xie F. (Med. Oncol. 2013)
    7. Expression of TMPRSS4 in non-small cell lung cancer and its modulation by hypoxia. (PubMed id 22692880)1 Nguyen T.H....Shankara S. (Int. J. Oncol. 2012)
    8. TMPRSS4 is a type II transmembrane serine protease involved in cancer and viral infections. (PubMed id 22944691)1 Ohler A. and Becker-Pauly C. (Biol. Chem. 2012)
    9. Overexpression of TMPRSS4 in non-small cell lung cancer is associated with poor prognosis in patients with squamous histology. (PubMed id 22067904)1 Larzabal L....Calvo A. (Br. J. Cancer 2011)
    10. Radiation enhances long-term metastasis potential of residual hepatocellular carcinoma in nude mice through TMPRSS4-induced epithelial-mesenchymal transition. (PubMed id 21637307)1 Li T....Tang Z.Y. (Cancer Gene Ther. 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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

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    Entrez Gene: 56649 HGNC: 11878 AceView: TMPRSS4 Ensembl:ENSG00000137648 euGenes: HUgn56649
    ECgene: TMPRSS4 Kegg: 56649 H-InvDB: TMPRSS4

    (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 TMPRSS4 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for TMPRSS4 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

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    Patent Information for TMPRSS4 gene:
    Search GeneIP for patents involving TMPRSS4

    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
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    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

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