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TMPRSS3 Gene

protein-coding   GIFtS: 61
GCID: GC21M043791

Transmembrane Protease, Serine 3


(Previous symbols: DFNB10, DFNB8)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, 15RNAdb, and/or 11Nature:405,311-319 and CroW21)
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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   

Export aliases for TMPRSS3 gene to outside databases

Previous GC identifers: GC21M040339 GC21M042686 GC21M042665 GC21M029209 GC21M038437


(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 TMPRSS3 Gene:
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)

GeneCards Summary for TMPRSS3 Gene:
TMPRSS3 (transmembrane protease, serine 3) is a protein-coding gene. Diseases associated with TMPRSS3 include deafness, autosomal recessive 8/10, and dfnb 8/10 nonsyndromic hearing loss and deafness. GO annotations related to this gene include sodium channel regulator activity and serine-type endopeptidase activity. An important paralog of this gene is TMPRSS11D.

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 Gene


(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, Whole Chromsome Sequence According to Nature (Cited Here with Permission):405,311-319 and CroW21)
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RefSeq DNA sequence:
NC_000021.9  NC_018932.2  NT_011512.12  
Regulatory elements:
   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 Chromatin IP Primers for TMPRSS3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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, 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, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: TMPS3_HUMAN, P57727 (See protein sequence)
Recommended Name: Transmembrane protease serine 3  
Size: 454 amino acids; 49405 Da
Secondary accessions: D3DSJ6 Q5USC7 Q6ZMC3
Alternative splicing: 6 isoforms:  P57727-1   P57727-2   P57727-3   P57727-4   P57727-5   P57727-6   (Has a predicted N-terminal signal sequence, indicating it may be secreted. Expressed in retina, lung, liver, pancreas, placenta and kidney)

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

Explore proteomics data for TMPRSS3 at MOPED

Post-translational modifications: 

  • Undergoes autoproteolytic activation1
  • Glycosylation2 at Asn221
  • Modification sites at PhosphoSitePlus
  • 4 DME Specific Peptides for TMPRSS3 (P57727)
     GDSGGPL  SGGPLVC  CQGDSGGP  DSCQGDSGG 


    See TMPRSS3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_001243246.1  NP_076927.1  NP_115780.1  NP_115781.1  

    ENSEMBL proteins: 
     ENSP00000381442   ENSP00000411013   ENSP00000291532   ENSP00000381434   ENSP00000369762  

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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 8):
     IPR002172 LDrepeatLR_classA_rpt
     IPR001314 Peptidase_S1A
     IPR001190 SRCR
     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 domains:
    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


    TMPRSS3 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: 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): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0004252serine-type endopeptidase activity NAS11068177
    GO:0005044scavenger receptor activity IEA--
    GO:0005515protein binding ----
    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: Let us create your new Knockout/Knockin mouse model for TMPRSS3
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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
    TMPS3_HUMAN, P57727: Endoplasmic reticulum membrane; Single-pass type II membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    plasma membrane3
    cytosol2
    mitochondrion1
    nucleus1
    peroxisome1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005783endoplasmic reticulum IDA16780588
    GO:0005789endoplasmic reticulum membrane IDA12393794
    GO:0016020membrane ----
    GO:0016021integral component of membrane NAS11068177
    GO:0043025neuronal cell body IEA--

    TMPRSS3 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 TMPRSS3
    Interactions:

        Search GeneGlobe Interaction Network for TMPRSS3

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

    Selected 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:    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, 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 TMPRSS3 (TMPS3)

    1 Novoseek inferred 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)



    TMPRSS3 for compounds           About GeneDecksing



    (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,
    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 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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      QuantiTect SYBR Green Assays in human, mouse, rat TMPRSS3
      QuantiFast Probe-based Assays in human, mouse, rat TMPRSS3

    Additional mRNA 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 

    Selected AceView cDNA sequences (see all 190):

    BM817954 BM853888 BM142503 AK172842 AB038159 CK820253 BM855339 AI469095 
    BM768282 BM855263 BF435670 AB038157 BM850313 BF435137 BQ083523 NM_003225 
    BM856237 X52003 BM768238 AA307578 BM854657 BM786056 BM768507 NM_032404 

    GeneLoc Exon Structure

    Selected 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™, 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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    TMPRSS3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTGGTGTTGG
    TMPRSS3 Expression
    About this image

    TMPRSS3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TMPRSS3 Protein Expression

    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)
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    This gene was present in the common ancestor of animals.

    Orthologs for TMPRSS3 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tmprss31 , 5 transmembrane protease, serine 31, 5 84.55(n)1
    88.96(a)1
      17 (15.80 cM)5
    1407651  NM_001163776.11  NP_001157248.11 
     311792725 
    chicken
    (Gallus gallus)
    Aves TMPRSS31 transmembrane protease, serine 3 65.62(n)
    60.71(a)
      427988  XM_425558.4  XP_425558.3 
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia tmprss31 transmembrane protease, serine 3 61.78(n)
    56.21(a)
      100490444  XM_002940468.2  XP_002940514.2 
    zebrafish
    (Danio rerio)
    Actinopterygii tmprss3a1 transmembrane protease, serine 3a 58.75(n)
    53.83(a)
      100000148  XM_001340386.5  XP_001340422.5 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG33551 , 3 enteropeptidase3
    CG33551
    42(a)
    (best of 17)3
    52.65(n)1
    46.35(a)1
      25A23
    336671  NM_135004.21  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)
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    Paralogs for TMPRSS3 gene
    TMPRSS11D2  TMPRSS11B2  TMPRSS62  TMPRSS11A2  TMPRSS72  TMPRSS52  TMPRSS42  ST142  
    TMPRSS132  TMPRSS11E2  TMPRSS22  KLKB12  F112  HPN2  TMPRSS152  TMPRSS11F2  
    Selected SIMAP similar genes for TMPRSS3 using alignment to 2 protein entries:     TMPS3_HUMAN (see all proteins) (see all similar genes):
    KLKB1    F12    CELA2B    CTRL    TMPRSS11F    CTRB1
    DKFZp779M0222    CTRB2    PRSS46    TMPRSS5    PRSS8    TPSG1
    CELA3A    HPN    PROC1    PRSS21    TMPRSS2    serase-1B

    TMPRSS3 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 TMPRSS3 (see all 897)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 21 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1110332921,2
    C,Fnon-pathogenic134295612(-) GTGTAC/TGGTGG 7 Y syn12Minor allele frequency- T:0.00NA EU 5521
    rs28395001,2,,4
    C,F,O,Hnon-pathogenic134302059(+) AGTGAC/TGATCC 9 I V mis1 ese326Minor allele frequency- G:0.00NA NS EA CSA WA EU 8381
    rs562839661,2
    Cnon-pathogenic134302202(-) CCATA-/TAGCCTG 5 -- spa10--------
    rs2254311,2
    C,F,Hnon-pathogenic134302219(-) CAAGCC/TTTTGT 5 -- int112Minor allele frequency- T:0.01MN NS EA NA EU 2591
    rs28395011,2
    C,F,O,Hnon-pathogenic134304532(+) GAACTC/TACATA 9 V syn134Minor allele frequency- G:0.00NA NS EA WA CSA EU 8869
    rs81305641,2
    C,F,A,Hnon-pathogenic134304551(+) CACATC/TGGAAA 5 -- int129Minor allele frequency- T:0.39NS EA NA WA CSA EU 4078
    rs617315641,2
    C,Fnon-pathogenic134307422(+) CCCAGT/CTGGGC 9 /Q syn14Minor allele frequency- C:0.03NS CSA WA NA 4750
    rs352271811,2,,4
    C,Fnon-pathogenic134307523(-) GGGTGG/AGTGGT 8 /S /G mis1 ut5117Minor allele frequency- A:0.13NA NS EA WA CSA EU 6593
    rs455982391,2
    C,Fnon-pathogenic134307987(+) TCGAGC/TTATCA 8 T A mis1 ut514Minor allele frequency- T:0.03NA EU 5997
    rs9283021,2,,4
    C,F,A,Hnon-pathogenic134308979(+) AATGAC/TGATGA 8 I V mis1 us2k131Minor allele frequency- T:0.09MN EA NA NS WA EU 9110

    HapMap Linkage Disequilibrium report for TMPRSS3 (43791996 - 43816955 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for TMPRSS3:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv1143434CNV Insertion17803354
    esv1082026CNV Insertion17803354
    nsv913792CNV Loss21882294

    Human Gene Mutation Database (HGMD): TMPRSS3
    Locus Specific Mutation Databases (LSDB): TMPRSS3

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers 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.)
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    OMIM gene information: 605511   
    OMIM disorders: 601072  
    UniProtKB/Swiss-Prot: TMPS3_HUMAN, P57727
  • Deafness, autosomal recessive, 8 (DFNB8) [MIM:601072]: A form of non-syndromic 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. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 14 diseases for TMPRSS3:    
    About MalaCards
    deafness, autosomal recessive 8/10    dfnb 8/10 nonsyndromic hearing loss and deafness    deafness, autosomal recessive 76    nonsyndromic hearing loss and deafness, autosomal recessive
    nonsyndromic hearing loss and deafness    nonsyndromic deafness    gout    sensorineural hearing loss
    ovarian cancer    pancreatic cancer    pancreatitis    multiple myeloma
    myeloma    neuronitis

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

    TMPRSS3 for disorders           About GeneDecksing

    5 Novoseek inferred 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)
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    PubMed articles for TMPRSS3 gene, integrated from 10 sources (see all 37):
    (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. (J. Mol. Med. 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. (Hum. Mutat. 2001)
    3. Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan. (PubMed id 15447792)1, 2, 9 Ahmed Z.M....Wilcox E.R. (BMC Med. Genet. 2004)
    4. 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. (Hum. Mol. Genet. 2002)
    5. 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. (Biochim. Biophys. Acta 2000)
    6. 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. (Nat. Genet. 2001)
    7. 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. (Hum. Genet. 2005)
    8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    10. 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)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 64699 HGNC: 11877 AceView: TFF1andTMPRSS3 Ensembl:ENSG00000160183 euGenes: HUgn64699
    ECgene: TMPRSS3 H-InvDB: TMPRSS3

    (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 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.)
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    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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