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TMPRSS11E Gene

protein-coding   GIFtS: 50
GCID: GC04P069313

Transmembrane Protease, Serine 11E

(Previous names: transmembrane protease, serine 11E2)
(Previous symbol: TMPRSS11E2)
  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 11E1 2     Transmembrane Protease Serine 11E22 3
TMPRSS11E21 2 3     Transmembrane Protease Serine 11E2
DESC12 3 5     EC 3.4.21.-3
Transmembrane Protease, Serine 11E21 2     EC 3.4.218
Serine Protease DESC12 3     EC 3.4.21.18

External Ids:    HGNC: 244651   Entrez Gene: 289832   Ensembl: ENSG000000871287   OMIM: 6103995   UniProtKB: Q9UL523   

Export aliases for TMPRSS11E gene to outside databases

Previous GC identifers: GC04P069142 GC04P068995 GC04P065226


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for TMPRSS11E Gene:
TMPRSS11E (transmembrane protease, serine 11E) is a protein-coding gene. Diseases associated with TMPRSS11E include squamous cell carcinoma of the head and neck, and renal cell carcinoma. GO annotations related to this gene include serine-type peptidase activity and serine-type endopeptidase activity. An important paralog of this gene is TMPRSS11D.

UniProtKB/Swiss-Prot: TM11E_HUMAN, Q9UL52
Function: Serine protease which possesses both gelatinolytic and caseinolytic activities. Shows a preference for
Arg in the P1 position (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_000004.12  NC_018915.2  NT_016354.20  NT_167250.2  
Regulatory elements:
   Search for regulatory transcription factor binding sites for TMPRSS11E
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTMPRSS11E promoter sequence
   Search Chromatin IP Primers for TMPRSS11E

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TMPRSS11E


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

Entrez Gene cytogenetic band: 4q13.2   Ensembl cytogenetic band:  4q13.2   HGNC cytogenetic band: 4q13.2

TMPRSS11E Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TMPRSS11E gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04P069313:  view genomic region     (about GC identifiers)

Start:
69,313,167 bp from pter      End:
69,363,322 bp from pter
Size:
50,156 bases      Orientation:
plus strand

1 alternative location:
Chr4+,NT_167250 143,089-193,241     

(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: TM11E_HUMAN, Q9UL52 (See protein sequence)
Recommended Name: Transmembrane protease serine 11E precursor  
Size: 423 amino acids; 47696 Da
Subunit: Forms a heterodimer with SERPINA5 and SERPINE1
Caution: It is uncertain whether Met-1 or Met-2 is the initiator
1 PDB 3D structure from and Proteopedia for TMPRSS11E:
2OQ5 (3D)    
Secondary accessions: A6NL71 Q14DC8 Q6UW31

Explore the universe of human proteins at neXtProt for TMPRSS11E: NX_Q9UL52

Explore proteomics data for TMPRSS11E at MOPED

Post-translational modifications: 

  • N-glycosylated (By similarity)1
  • Glycosylation2 at Asn75, Asn166, Asn223
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for TMPRSS11E (Q9UL52) (see all 6)
     GDSGGPL  GSHRCGA  PNKPGVY  CQGDSGGP 


    See TMPRSS11E Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_054777.2  
    ENSEMBL proteins: 
     ENSP00000307519   ENSP00000424109  

    TMPRSS11E 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 6):
     IPR001314 Peptidase_S1A
     IPR000082 SEA_dom
     IPR017329 Pept_S1A_HAT/DESC1
     IPR009003 Trypsin-like_Pept_dom
     IPR001254 Peptidase_S1

    Graphical View of Domain Structure for InterPro Entry Q9UL52

    ProtoNet protein and cluster: Q9UL52

    3 Blocks protein domains:
    IPB000082 SEA domain
    IPB001254 Serine protease
    IPB001314 Chymotrypsin serine protease family (S1) signature


    UniProtKB/Swiss-Prot: TM11E_HUMAN, Q9UL52
    Similarity: Belongs to the peptidase S1 family
    Similarity: Contains 1 peptidase S1 domain
    Similarity: Contains 1 SEA domain


    TMPRSS11E 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: TM11E_HUMAN, Q9UL52
    Function: Serine protease which possesses both gelatinolytic and caseinolytic activities. Shows a preference for
    Arg in the P1 position (By similarity)
    Enzyme regulation: Inhibited by SERPINA5

         Enzyme Numbers (IUBMB): EC 3.4.212 EC 3.4.21.12 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 IEA--
    GO:0005515protein binding ----
    GO:0008236serine-type peptidase activity ISS--
         
    TMPRSS11E for ontologies           About GeneDecksing


    Animal Models:
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    hsa-mir-26b-5p (MIRT029855)

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    hsa-miR-505 hsa-miR-489 hsa-miR-944
    SwitchGear 3'UTR luciferase reporter plasmidTMPRSS11E 3' UTR sequence
    Inhib. RNA
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    (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
    TM11E_HUMAN, Q9UL52: Cell membrane; Single-pass type II membrane protein (By similarity)
    TM11E_HUMAN, Q9UL52: Transmembrane protease serine 11E catalytic chain: Secreted (By similarity). Note=Activated
    by cleavage and secreted (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    endoplasmic reticulum2
    extracellular2
    golgi apparatus2
    mitochondrion1
    peroxisome1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region IEA--
    GO:0005886plasma membrane ----
    GO:0005887integral component of plasma membrane ISS--

    TMPRSS11E 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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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for TMPRSS11E
    Interactions:

        Search GeneGlobe Interaction Network for TMPRSS11E

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    2 Interacting proteins for TMPRSS11E (Q9UL523 ENSP000003075194) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SERPINA5P051543, ENSP000003332034I2D: score=1 STRING: ENSP00000333203
    SERPINE1P051213, ENSP000002230954I2D: score=1 STRING: ENSP00000223095
    About this table

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

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

    TMPRSS11E 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 TMPRSS11E (TM11E)



    (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 TMPRSS11E gene: 
    NM_014058.3  

    Unigene Cluster for TMPRSS11E:

    Transmembrane protease, serine 11E
    Hs.201877  [show with all ESTs]
    Unigene Representative Sequence: NM_014058
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000305363(uc003hdz.4) ENST00000510647
    miRNA
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    hsa-miR-505 hsa-miR-489 hsa-miR-944
    SwitchGear 3'UTR luciferase reporter plasmidTMPRSS11E 3' UTR sequence
    Inhib. RNA
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      QuantiTect SYBR Green Assays in human, mouse, rat TMPRSS11E
      QuantiFast Probe-based Assays in human, mouse, rat TMPRSS11E

    Additional mRNA sequence: 

    AF064819.1 AK292787.1 AK313859.1 AY359017.1 BC113412.1 BC113414.1 

    4 DOTS entries:

    DT.65288155  DT.121256157  DT.121240407  DT.121240411 

    13 AceView cDNA sequences:

    BG680862 AF064819 AY359017 AI282714 AI696187 NM_014058 AL698811 BE181019 
    BG204874 BG193269 BE711113 CD702243 BG207680 

    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™, 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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    TMPRSS11E expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    TMPRSS11E Expression
    About this image

    TMPRSS11E Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TMPRSS11E Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.201877

    UniProtKB/Swiss-Prot: TM11E_HUMAN, Q9UL52
    Tissue specificity: Expression can only be detected in tissues derived from the head and neck, and in skin,
    prostate and testis

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    In Situ
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    (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 chordates.

    Orthologs for TMPRSS11E gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tmprss11e1 , 5 transmembrane protease, serine 11e1, 5 80.96(n)1
    75.83(a)1
      5 (43.56 cM)5
    2430841  NM_172880.21  NP_766468.11 
     867051865 
    chicken
    (Gallus gallus)
    Aves TMPRSS11F1 transmembrane protease, serine 11F 58.44(n)
    48.15(a)
      428763  XM_004941191.1  XP_004941248.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    46(a)
    1 → many
    6(58396729-58445129)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia LOC1017326371 uncharacterized LOC101732637 56.09(n)
    47.83(a)
      101732637  XM_004911443.1  XP_004911500.1 


    ENSEMBL Gene Tree for TMPRSS11E (if available)
    TreeFam Gene Tree for TMPRSS11E (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for TMPRSS11E gene
    TMPRSS11D2  TMPRSS32  TMPRSS11B2  TMPRSS62  TMPRSS11A2  TMPRSS72  TMPRSS52  TMPRSS42  
    ST142  TMPRSS132  TMPRSS22  KLKB12  F112  HPN2  TMPRSS152  TMPRSS11F2  
    Selected SIMAP similar genes for TMPRSS11E using alignment to 2 protein entries:     TM11E_HUMAN (see all proteins) (see all similar genes):
    DESC1    TMPRSS11A    TMPRSS11D    TMPRSS11F    ST14    TMPRSS2
    PRSS22    CELA2A    TMPRSS11B    TMPRSS15    TMPRSS7    TMPRSS5
    PRSS42    CTRB1    CTRB2    DKFZp586F0824    HPN    PRSS41

    TMPRSS11E for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for TMPRSS11E
    PGOHUM00000245555


    (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 TMPRSS11E (see all 1079)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1493762721,2
    --69311228(+) ATGAAA/GGACAA 1 -- us2k10--------
    rs1474677331,2
    C--69311304(+) CCTTGA/CCATTC 1 -- us2k10--------
    rs1398546211,2
    --69311389(+) CAAAGA/GCCATT 1 -- us2k10--------
    rs1441209381,2
    C--69311526(+) CATGAC/TAGCCC 1 -- us2k10--------
    rs1473169941,2
    --69311588(+) GGTCCA/TTAGGC 1 -- us2k10--------
    rs1409309701,2
    --69311596(+) GGCCTA/GTATAA 1 -- us2k10--------
    rs1901929091,2
    --69311707(+) AGAGGA/GAATCT 1 -- us2k10--------
    rs1423790591,2
    C--69311726(+) TTGAAA/TACAAA 1 -- us2k10--------
    rs1819480281,2
    --69311912(+) GTAATA/TTTTAA 1 -- us2k10--------
    rs1848233711,2
    --69311918(+) TTTAAA/GTGAGT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for TMPRSS11E (69313167 - 69363322 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for TMPRSS11E (see all 14):    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv88n17CNV Loss16327808
    dgv5581n71CNV Loss21882294
    dgv5580n71CNV Loss21882294
    dgv5584n71CNV Loss21882294
    nsv10515CNV Gain18304495
    dgv5583n71CNV Gain21882294
    dgv5582n71CNV Gain21882294
    nsv879230CNV Gain21882294
    dgv5585n71CNV Gain21882294
    nsv442910CNV CNV18776908

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    (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: 610399    OMIM disorders: --

    4 diseases for TMPRSS11E:    
    About MalaCards
    squamous cell carcinoma of the head and neck    renal cell carcinoma    squamous cell carcinoma    prostatitis


    TMPRSS11E for disorders           About GeneDecksing


    Export disorders for TMPRSS11E 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 TMPRSS11E gene, integrated from 10 sources (see all 12):
    (articles sorted by number of sources associating them with TMPRSS11E)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Crystal structure of the catalytic domain of DESC1, a new member of the type II transmembrane serine proteinase family. (PubMed id 17388811)1, 2 Kyrieleis O.J....Jacob U. (FEBS J. 2007)
    2. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)1, 2 Hillier L.W.... Wilson R.K. (Nature 2005)
    3. 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)
    4. Mouse DESC1 is located within a cluster of seven DESC1-like genes and encodes a type II transmembrane serine protease that forms serpin inhibitory complexes. (PubMed id 15328353)1, 3 Hobson J.P.... Bugge T.H. (J. Biol. Chem. 2004)
    5. 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)
    6. Differential expression of a novel serine protease homologue in squamous cell carcinoma of the head and neck. (PubMed id 11161383)1, 2 Lang J.C. and Schuller D.E. (Br. J. Cancer 2001)
    7. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (Genome Res. 2006)
    8. Regulation of carcinoma cell invasion by protein C inhibitor whose expression is decreased in renal cell carcinoma. (PubMed id 14696115)2 Wakita T.... Suzuki K. (Int. J. Cancer 2004)
    9. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    10. Toward a complete human genome sequence. (PubMed id 9847074)1 Sulston J.E. and Waterston R. (Genome Res. 1998)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 28983 HGNC: 24465 AceView: DESC1 Ensembl:ENSG00000087128 euGenes: HUgn28983
    ECgene: TMPRSS11E H-InvDB: TMPRSS11E

    (According to HUGE)
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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)
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    NameDescription
    PharmGKB entry for TMPRSS11E Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
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    IP news from LifeMap Sciences, Inc.)
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    Patent Information for TMPRSS11E gene:
    Search GeneIP for patents involving TMPRSS11E

    GeneCards and IP:
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