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

TMPRSS3 Gene

protein-coding   GIFtS: 62
GCID: GC21M043791

transmembrane protease, serine 3


(Previous symbols: DFNB10, DFNB8)
 Explore 9 diseases affiliated with
TMPRSS3 via our new
 Human Malady Compendium 
Biological research products
for TMPRSS3
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, and/or 11Nature:405,311-319 and CroW21)
About This Section

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Transmembrane Protease, Serine 31 2     TADG122 3
DFNB101 2 5     Gene Similar To Transmembrane Serine Protease11
DFNB81 2 5     Transmembrane Protease Serine 32
ECHOS12 3 5     EC 3.4.21.-3
Serine Protease TADG-122 3     EC 3.4.218
Tumor-Associated Differentially-Expressed Gene 12 Protein2 3     

External Ids:    HGNC: 118771   Entrez Gene: 646992   Ensembl: ENSG000001601837   OMIM: 6055115   UniProtKB: P577273   
ORGUL members:         
NONCODE:n407814    

Export aliases for TMPRSS3 gene to outside databases

Previous GC identifers: GC21M040339 GC21M042686 GC21M042665 GC21M029209 GC21M038437


(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 TMPRSS3:
This gene encodes a protein that belongs to the serine protease family. The encoded protein contains a serine protease
domain, a transmembrane domain, an LDL receptor-like domain, and a scavenger receptor cysteine-rich domain. 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 by its association with both congenital and childhood onset autosomal
recessive deafness. This gene is expressed in fetal cochlea and many other tissues, and is thought to be involved in
the development and maintenance of the inner ear or the contents of the perilymph and endolymph. This gene was also
identified as a tumor-associated gene that is overexpressed in ovarian tumors. Alternatively spliced transcript
variants have been described. (provided by RefSeq, Jan 2012)

UniProtKB/Swiss-Prot: TMPS3_HUMAN, P57727
Function: Probable serine protease that play a role in hearing. Acts as a permissive factor for cochlear hair cells
survival and activation at the onset of hearing and is required for saccular hair cell survival (By similarity).
Activates ENaC (in vitro)

Gene Wiki entry for TMPRSS3


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics, Whole Chromsome Sequence According to Nature (Cited Here with Permission):405,311-319 and CroW21)
About This Section
RefSeq DNA sequence:
NC_000021.8  NC_018932.1  NT_011515.12  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the TMPRSS3 gene promoter:
         Nkx3-1   Nkx3-1 v4   GATA-3   GCNF   Nkx3-1 v1   Nkx3-1 v2   POU2F1   GCNF-1   POU2F1a   Nkx3-1 v3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): TMPRSS3 promoter sequence

   Search SABiosciences Chromatin IP Primers for TMPRSS3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TMPRSS3


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

Entrez Gene cytogenetic band: 21q22.3   Ensembl cytogenetic band:  21q22.3   HGNC cytogenetic band: 21q22.3
Nature(405: 311-319) cytogenetic band:   21q22.3
TMPRSS3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TMPRSS3 gene location
GeneLoc information about chromosome 21         GeneLoc Exon Structure

(about GC identifiers)
GC21M043791:   GeneLoc Nature:405,311-319
Start:
43,791,996 bp from pter       29,339,326 bp from centromere
End:
43,816,955 bp from pter 29,363,526 bp from centromere
Size:
24,960 bases 24,201 bases
Orientation:
minus strand minus strand

genomic clones: KB169B4


(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: TMPS3_HUMAN, P57727 (See protein sequence)
Recommended Name: Transmembrane protease serine 3  
Size: 454 amino acids; 49405 Da
Subcellular location: Endoplasmic reticulum membrane; Single-pass type II membrane protein
Secondary accessions: D3DSJ6 Q6ZMC3
Alternative splicing: 5 isoforms:  P57727-1   P57727-2   P57727-3   P57727-4   P57727-5   

Explore the universe of human proteins at neXtProt for TMPRSS3: NX_P57727

Post-translational modifications:

  • Undergoes autoproteolytic activation1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P57727

  • 4 DME Specific Peptides for TMPRSS3 (P57727)
     GDSGGPL  SGGPLVC  CQGDSGGP  DSCQGDSGG 

    TMPRSS3 Protein expression data from MOPED and PaxDb:    About this image 
    TMPRSS3 Protein Expression
    REFSEQ proteins (4 alternative transcripts): 
    NP_001243246.1  NP_076927.1  NP_115780.1  NP_115781.1  

    ENSEMBL proteins: 
     ENSP00000381442   ENSP00000411013   ENSP00000291532   ENSP00000381434   ENSP00000369762  

    Human Recombinant Protein Products for TMPRSS3: 
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    Uscn Proteins for TMPRSS3

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005783endoplasmic reticulum IDA16780588
    GO:0005789endoplasmic reticulum membrane IDA12393794
    GO:0016020membrane ----
    GO:0016021integral to membrane NAS11137999
    GO:0043025neuronal cell body IEA--

    TMPRSS3 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TMPRSS3 for domains           About GeneDecksing

    5/8 InterPro domains/families (see all 8):
     IPR002172 LDrepeatLR_classA_rpt
     IPR001314 Peptidase_S1A
     IPR001190 Srcr_rcpt
     IPR023415 LDLR_class-A_CS
     IPR009003 Trypsin-like_Pept_dom

    Graphical View of Domain Structure for InterPro Entry P57727

    ProtoNet protein and cluster: P57727

    4 Blocks protein families:
    IPB001190 Speract/scavenger receptor
    IPB001254 Serine protease
    IPB001314 Chymotrypsin serine protease family (S1) signature
    IPB002172 Low density lipoprotein-receptor


    UniProtKB/Swiss-Prot: TMPS3_HUMAN, P57727
    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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, 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, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TMPS3_HUMAN, P57727
    Function: Probable serine protease that play a role in hearing. Acts as a permissive factor for cochlear hair cells
    survival and activation at the onset of hearing and is required for saccular hair cell survival (By similarity).
    Activates ENaC (in vitro)

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

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004252serine-type endopeptidase activity NAS11137999
    GO:0005044scavenger receptor activity IEA--
    GO:0017080sodium channel regulator activity IDA12393794
         
    TMPRSS3 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for TMPRSS3:
     Increased viability after born 

         3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Tmprss3):
     behavior/neurological  hearing/vestibular/ear  nervous system 

    TMPRSS3 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for TMPRSS3 

    miRNA
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    Inhib. RNA
    Products:
        
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    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TMPRSS3


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for TMPRSS3

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    5/8 Interacting proteins for TMPRSS3 (P577272, 3 ENSP000002915324) via UniProtKB, MINT, STRING, and/or I2D (see all 8)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RXRAP197933, ENSP000004196924I2D: score=4 STRING: ENSP00000419692
    EEF1A1P681043I2D: score=4 
    TMED7ENSP000004059264STRING: ENSP00000405926
    UBCENSP000003448184STRING: ENSP00000344818
    --Q5JR013, 2MINT-63910 I2D: score=1 
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006508proteolysis NAS11068177
    GO:0006883cellular sodium ion homeostasis IDA12393794
    GO:0007605sensory perception of sound IEA--

    TMPRSS3 for ontologies           About GeneDecksing



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

    TMPRSS3 for compounds           About GeneDecksing

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

    Browse Tocris compounds for TMPRSS3
    1 Novoseek chemical compound relationship for TMPRSS3 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    serine 62.6 11 12393794 (3), 11462234 (2), 11137999 (1), 11068177 (1) (see all 7)

    Search CenterWatch for drugs/clinical trials and news about TMPRSS3 / TMPS3 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    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, Sirion Biotech, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for TMPRSS3 gene (5 alternative transcripts): 
    NM_001256317.1  NM_024022.2  NM_032404.2  NM_032405.1  NM_032401.1  

    Unigene Cluster for TMPRSS3:

    Transmembrane protease, serine 3
    Hs.208600  [show with all ESTs]
    Unigene Representative Sequence: NR_046020
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000476848(uc002zay.2) ENST00000474596(uc002zaz.2) ENST00000482761(uc002zba.2)
    ENST00000398405 ENST00000433957 ENST00000291532(uc002zbb.2 uc002zbc.2)
    ENST00000398397(uc002zbd.3) ENST00000478680 ENST00000380399

    miRNA
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    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for TMPRSS3 (see all 7)
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TMPRSS3
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    Additional cDNA sequence: 

    AB038157.1 AB038158.1 AB038159.1 AB038160.1 AF201380.1 AF267741.1 AK172842.1 AY358458.1 
    AY633572.1 BC074846.2 BC074847.2 NR_046020.1 

    7 DOTS entries:

    DT.92418060  DT.75100241  DT.95314059  DT.100019257  DT.100771966  DT.99936886  DT.75147373 

    24/190 AceView cDNA sequences (see all 190):

    BM768238 AB038160 NM_032404 NM_032405 NM_024022 BM767158 BM855291 BM856224 
    BM853943 BM768507 AI970839 BX341674 BM142503 AI925552 BM856488 BM817954 
    BM853888 BM855692 BM798931 AA524242 CK820254 AA858276 BM854657 BM855263 

    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for TMPRSS3 (see all 6)    About this scheme

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


    ECgene alternative splicing isoforms for TMPRSS3

    (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

    TMPRSS3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TTGGTGTTGG
    TMPRSS3 Expression
    About this image
    See TMPRSS3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TMPRSS3

    SOURCE GeneReport for Unigene cluster: Hs.208600

    UniProtKB/Swiss-Prot: TMPS3_HUMAN, P57727
    Tissue specificity: Expressed in many tissues including fetal cochlea. Isoform T is found at increased levels in some
    carcinomas

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TMPRSS3

    (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.

    Orthologs for TMPRSS3 gene from 4/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves TMPRSS31 transmembrane protease, serine 3 66.07(n)
    61.12(a)
      427988  XM_425558.3  XP_425558.2 
    lizard
    (Anolis carolinensis)
    Reptilia TMPRSS36
    --
    73(a)
    1 ↔ 1
    3(137746529-137750396)
    zebrafish
    (Danio rerio)
    Actinopterygii BX294175.36
    si:dkey-22n8.26
    (see all 3)
    si:dkey-22n8.2
    (see all 3)
    54(a)
    44(a)
    (see all 3)
    1 ↔ many
    1 ↔ many
    (see all 3)
    9(20305541-20333044)
    1(47443007-47454458)
    fruit fly
    (Drosophila melanogaster)
    Insecta CG33551 , 3 enteropeptidase3
    CG33551
    42(a)
    (best of 17)3
    53.22(n)1
    46.35(a)1
      25A23
    336671  NM_135004.11  NP_608848.11 


    ENSEMBL Gene Tree for TMPRSS3 (if available)
    TreeFam Gene Tree for TMPRSS3 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for TMPRSS3 gene
    TMPRSS72  TMPRSS52  ST142  TMPRSS42  TMPRSS11D2  TMPRSS132  TMPRSS11E2  TMPRSS11B2  
    TMPRSS22  TMPRSS92  HPN2  TMPRSS152  TMPRSS11F2  TMPRSS11A2  TMPRSS62  
    18/88 SIMAP similar genes for TMPRSS3 using alignment to 3 protein entries:     TMPS3_HUMAN (see all proteins) (see all similar genes):
    KLKB1    F12    CTRL    TMPRSS11F    CTRB1    DKFZp779M0222
    CTRB2    PRSS46    CELA2B    TMPRSS5    PRSS8    TPSG1
    CELA3A    HPN    PRSS21    TMPRSS2    serase-1B    PROC1

    TMPRSS3 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/705 NCBI SNPs in TMPRSS3 are shown (see all 705    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 21 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs28395001,2
    C,F,O,Hnon-pathogenic43803167(+) AGTGAC/TGATCC 9 I V mis1 ese326Minor allele frequency- G:0.00NA NS EA CSA WA EU 8381
    rs562839661,2
    Cnon-pathogenic43803309(-) CCATA-/TAGCCTG 5 -- spa10--------
    rs28395011,2
    C,F,O,Hnon-pathogenic43805637(+) GAACTA/C/G/
            
    ACATA
    19 V nc-transcript-variantsyn134NA NS EA WA CSA EU 8869
    rs81305641,2
    C,F,A,Hnon-pathogenic43805656(+) CACATC/TGGAAA 5 -- int129Minor allele frequency- T:0.39NS EA NA WA CSA EU 4078
    rs352271811,2
    C,Fnon-pathogenic43808627(-) GGGTGG/AGTGGT 8 /S /G nc-transcript-variantut51 mis117Minor allele frequency- A:0.13NA NS EA WA CSA EU 6593
    rs9283021,2
    C,F,A,Hnon-pathogenic43810084(+) AATGAC/TGATGA 8 I V mis1 us2k131Minor allele frequency- T:0.09MN EA NA NS WA EU 9110
    rs1378530001,2
    Cpathogenic43803277(-) CTCACA/G/TCATCG 14 H R L nc-transcript-variantmis10--------
    rs562645191,2
    C,Fprobable-non-pathogenic43795896(+) CTCTGC/TGCAGC 7 T A mis13Minor allele frequency- T:0.00NA EU 5849
    rs1110332921,2
    C,Fprobable-non-pathogenic43796716(-) GTGTAC/TGGTGG 7 Y syn12Minor allele frequency- T:0.00NA EU 5521
    rs1110332611,2
    C,Fprobable-non-pathogenic43800232(-) CAGAGG/AATGGA 7 /N /D nc-transcript-variantmis12Minor allele frequency- A:0.00NA EU 5863

    HapMap Linkage Disequilibrium report for TMPRSS3 (43791996 - 43816955 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for TMPRSS3: --
    Human Gene Mutation Database (HGMD): TMPRSS3

    Locus Specific Mutation Databases (LSDB): TMPRSS3

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing TMPRSS3
    DNA2.0 Custom Variant and Variant Library Synthesis for TMPRSS3

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    TMPRSS3 for disorders           About GeneDecksing

    OMIM gene information: 605511   
    OMIM disorders: 601072  605316  
    UniProtKB/Swiss-Prot: TMPS3_HUMAN, P57727
  • Defects in TMPRSS3 are the cause of deafness autosomal recessive type 8 (DFNB8) [MIM:601072]. DFNA8 is a form
  • of sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear,
    the nerve pathways to the brain, or the area of the brain that receives sound information
  • Defects in TMPRSS3 are the cause of deafness autosomal recessive type 10 (DFNB10) [MIM:605316]

  • 9 diseases for TMPRSS3:    About MalaCards
    deafness, autosomal recessive 8, childhood onset    deafness, autosomal recessive 10, congenital    hearing loss    nonsyndromic deafness
    ovarian cancer    gout    pancreatic cancer    carcinoma
    pancreatitis

    1 disease from the University of Copenhagen DISEASES database for TMPRSS3:
    Nonsyndromic deafness

    5 Novoseek disease relationships for TMPRSS3 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    congenital deafness 76.7 2 15447792 (2)
    ovarian carcinoma 46.7 4 11068177 (1), 15361711 (1)
    ovarian cancer 33 1 11068177 (1)
    carcinoma 10.7 1 11068177 (1)
    tumors 0 2 11068177 (2)

    Genetic Association Database (GAD): TMPRSS3
    Human Genome Epidemiology (HuGE) Navigator: TMPRSS3 (1 document)

    Export disorders for TMPRSS3 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 TMPRSS3 gene, integrated from 9 sources (see all 35):
    (articles sorted by number of sources associating them with TMPRSS3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients. (PubMed id 11907649)1, 2, 3, 4, 9 Wattenhofer M....Antonarakis S.E. (2002)
    2. Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness. (PubMed id 11462234)1, 2, 3, 9 Masmoudi S.... Guipponi M. (2001)
    3. The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro. (PubMed id 12393794)1, 2, 9 Guipponi M.... Rossier B.C. (2002)
    4. Ovarian tumor cells express a novel multi-domain cell surface serine protease. (PubMed id 11068177)1, 2, 9 Underwood L.J.... O'Brien T.J. (2000)
    5. Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness. (PubMed id 11137999)1, 2, 9 Scott H.S....Antonarakis S.E. (2001)
    6. A novel TMPRSS3 missense mutation in a DFNB8/10 family prevents proteolytic activation of the protein. (PubMed id 16021470)1, 2 Wattenhofer M.... Antonarakis S.E. (2005)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    8. 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)
    9. 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. (2003)
    10. Novel mutations of TMPRSS3 in four DFNB8/B10 families segregating congenital autosomal recessive deafness. (PubMed id 11424922)1, 2 Ben-Yosef T.... Morell R.J. (2001)

    (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: 64699 HGNC: 11877 AceView: TFF1andTMPRSS3 Ensembl:ENSG00000160183 euGenes: HUgn64699
    ECgene: TMPRSS3 H-InvDB: TMPRSS3

    (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 TMPRSS3 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for TMPRSS3 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 TMPRSS3 gene:
    Search GeneIP for patents involving TMPRSS3

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



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