Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


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)
  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)
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:         
NONCODE14: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 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, and is affiliated with the lncRNA class. Diseases associated with TMPRSS3 include deafness, autosomal recessive 10, congenital, and deafness, autosomal recessive 8, childhood onset. 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 73), 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_018932.2  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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: 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

Explore proteomics data for TMPRSS3 at MOPED 

Post-translational modifications:

  • UniProtKB: Undergoes autoproteolytic activation
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P57727

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

    TMPRSS3 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    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: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for TMPRSS3
    OriGene Custom MassSpec 
    OriGene Custom Protein Services for TMPRSS3
    GenScript Custom Purified and Recombinant Proteins Services for TMPRSS3
    Novus Biologicals TMPRSS3 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. 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 NAS11068177
    GO:0043025neuronal cell body IEA--

    TMPRSS3 for ontologies           About GeneDecksing



    TMPRSS3 Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    OriGene Antibodies for TMPRSS3
    OriGene Custom Antibody Services for TMPRSS3
    GenScript Custom Superior Antibodies Services for TMPRSS3
    Novus Biologicals TMPRSS3 Antibodies
    Abcam antibodies for TMPRSS3
    Cloud-Clone Corp. Antibodies for TMPRSS3 
    ThermoFisher Antibodies for TMPRSS3
    LSBio Antibodies in human, mouse, rat for TMPRSS3 

    Assay Products for TMPRSS3: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for TMPRSS3
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for TMPRSS3
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for TMPRSS3 
    Cloud-Clone Corp. CLIAs for TMPRSS3


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

    5/8 InterPro protein domains (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 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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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): 5/6 molecular function terms (GO ID links to tree view) (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 - Custom generated mouse model solutions for TMPRSS3 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for TMPRSS3

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TMPRSS3 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for TMPRSS3 

    miRNA
    Products:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TMPRSS3
    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate TMPRSS3
    SwitchGear 3'UTR luciferase reporter plasmidTMPRSS3 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for TMPRSS3
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TMPRSS3

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for TMPRSS3
    Sirion Biotech Customized adenovirus for overexpression of TMPRSS3

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for TMPRSS3 (see all 21)
    OriGene ORF clones in mouse, rat for TMPRSS3
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): TMPRSS3 (NM_032405)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TMPRSS3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TMPRSS3
    Sirion Biotech Customized lentivirus for stable overexpression of TMPRSS3 
                         Customized lentivirus expression plasmids for stable overexpression of TMPRSS3 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for TMPRSS3
    Search LifeMap BioReagents cell lines for TMPRSS3
    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, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for 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, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    TMPRSS3 for compounds           About GeneDecksing

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

    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)

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

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for 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
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TMPRSS3
    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate TMPRSS3
    SwitchGear 3'UTR luciferase reporter plasmidTMPRSS3 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for TMPRSS3
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TMPRSS3
    Clone
    Products:
         
    OriGene clones in human, mouse for TMPRSS3 (see all 21)
    OriGene ORF clones in mouse, rat for TMPRSS3
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): TMPRSS3 (NM_032405)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TMPRSS3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TMPRSS3
    Sirion Biotech Customized lentivirus for stable overexpression of TMPRSS3 
                         Customized lentivirus expression plasmids for stable overexpression of TMPRSS3 
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for TMPRSS3
    OriGene qSTAR qPCR primer pairs in human, mouse for TMPRSS3
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat TMPRSS3
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TMPRSS3
      QIAGEN 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 

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

    BM853888 BF435670 BX341674 CR590125 NM_032405 CK820254 BM855291 BM142503 
    BM853943 BM768238 BM856488 NM_032404 BM817954 AB038159 BM850313 BM855700 
    BM798962 AB038157 BF435137 BQ083523 BM855263 BM675374 BM856237 R55292 

    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 <intensity>2/3
    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

        SABiosciences Custom PCR Arrays for TMPRSS3
    Primer
    Products:
    OriGene qPCR primer pairs and template standards for TMPRSS3
    OriGene qSTAR qPCR primer pairs in human, mouse for TMPRSS3
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat TMPRSS3
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TMPRSS3
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TMPRSS3
    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 5/12 species (see all 12)    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 66.07(n)
    61.12(a)
      427988  XM_425558.3  XP_425558.2 
    lizard
    (Anolis carolinensis)
    Reptilia TMPRSS36
    transmembrane protease, serine 3
    69(a)
    1 ↔ 1
    3(137745074-137753569)
    zebrafish
    (Danio rerio)
    Actinopterygii tmprss3a6
    TMPRSS3 (3 of 3)6
    (see all 3)
    transmembrane protease, serine 3
    (see all 3)
    54(a)
    45(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
    TMPRSS11D2  TMPRSS11B2  TMPRSS62  TMPRSS11A2  TMPRSS72  TMPRSS52  TMPRSS42  ST142  
    TMPRSS132  TMPRSS11E2  TMPRSS22  KLKB12  F112  HPN2  TMPRSS152  TMPRSS11F2  
    18/82 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, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/897 SNPs in TMPRSS3 are shown (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
    SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 605511   
    OMIM disorders: 601072  605316  
    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

  • 11 diseases for TMPRSS3:    About MalaCards
    deafness, autosomal recessive 10, congenital    deafness, autosomal recessive 8, childhood onset    dfnb 8/10 nonsyndromic hearing loss and deafness    nonsyndromic hearing loss and deafness, autosomal recessive
    nonsyndromic deafness    gout    sensorineural hearing loss    ovarian cancer
    pancreatic cancer    pancreatitis    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)
    About This Section

    PubMed articles for TMPRSS3 gene, integrated from 9 sources (see all 36):
    (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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Protease Activity Assays and Reagents   Browse Recombinant/Natural Proteins  
     Browse Stem Cell Products   Browse Tocris Biochemicals & Compounds  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     OriGene Antibodies for TMPRSS3   OriGene RNAi products in human, mouse, rat for TMPRSS3  
     OriGene qPCR primer pairs and template standards for TMPRSS3   OriGene Protein Over-expression Lysate for TMPRSS3  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for TMPRSS3  
     OriGene qSTAR qPCR primer pairs in human, mouse for TMPRSS3   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
     OriGene ORF clones in mouse, rat for TMPRSS3   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for TMPRSS3   OriGene Custom Protein Services for TMPRSS3  

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat TMPRSS3
     QIAGEN SeqTarget long-range PCR primers for resequencing TMPRSS3
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TMPRSS3
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TMPRSS3
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TMPRSS3
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TMPRSS3
     GenScript Custom Purified and Recombinant Proteins Services for TMPRSS3 GenScript cDNA clones with any tag delivered in your preferred vector for TMPRSS3
     GenScript Custom Assay Services for TMPRSS3 GenScript Custom Superior Antibodies Services for TMPRSS3
     GenScript Custom overexpressing Cell Line Services for TMPRSS3 CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Regulatory tfbs in TMPRSS3 promoter
     Search Chromatin IP Primers for TMPRSS3
     RT2 qPCR Primer Assay in human, mouse, rat TMPRSS3
     Search GNC Networks for TMPRSS3
     SABiosciences Custom PCR Arrays for TMPRSS3
     Search Tocris compounds for TMPRSS3 (TMPS3)
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     TMPRSS3 antibodies
     TMPRSS3 lysates
     Antibodies for TMPRSS3
     See all of Abcam's Antibodies, Kits and Proteins for TMPRSS3
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     Proteins for TMPRSS3
     Antibodies for TMPRSS3
     ELISAs for TMPRSS3
     CLIAs for TMPRSS3
     Search LifeMap BioReagents cell lines for TMPRSS3
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TMPRSS3
     SwitchGear 3'UTR luciferase reporter plasmids for TMPRSS3
     SwitchGear Promoter luciferase reporter plasmids for TMPRSS3
     ThermoFisher Antibodies for TMPRSS3
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TMPRSS3
     inGenious Targeting Laboratory - Custom generated mouse model solutions for TMPRSS3
     inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for TMPRSS3
    Customized:
     lentivirus for stable overexpression of TMPRSS3
     lentivirus expression plasmids for stable overexpression of TMPRSS3
     adenovirus for overexpression of TMPRSS3
     LSBio Antibodies in human, mouse, rat for TMPRSS3
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
           
    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

    View Random Gene

    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      TMPRSS3 gene at Home site.
    hostname: 356980-web2.xennexinc.com index build: 106 solr: 1.4