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FLASH GENE
Symbol TMPRSS3 contributors: mct - updated : 18-01-2012
HGNC name transmembrane protease, serine 3
HGNC id 11877
Corresponding disease
DFNB10 neurosensory deafness 10
DFNB8 neurosensory deafness 8
Location 21q22.3      Physical location : 43.791.995 - 43.816.200
Synonym name
  • serine protease TADG12
  • tumor-associated differentially-expressed gene 12 protein
  • gene similar to transmembrane serine protease9
  • Synonym symbol(s) ECHOS1, TADG12, DFNB8, DFNB10
    EC.number 3.4.21.-
    DNA
    TYPE functioning gene
    STRUCTURE 24.20 kb     13 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Map see UBASH3A
    Physical map
    BACE2 21q22.3 beta-site APP-cleaving enzyme 2 PLAC4 21 placenta-specific 4 FAM3B 21q22.3 family with sequence similarity 3, member B MX2 21q22.3 myxovirus (influenza virus) resistance 2 (mouse) MX1 21q22.3 myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse) TMPRSS2 21q22.3 transmembrane protease, serine 2 C21orf129 21q22.3 chromosome 21 open reading frame 129 ANKRD3 21q22.3 ankyrin repeat domain 3 PRDM15 21q22.3 PR domain containing 15 LOC388827 21 similar to ZNF298 C21orf25 21q22.3 chromosome 21 open reading frame 25 LOC388828 21 similar to C21orf258 ZNF295 21q22.3 zinc finger protein 295 C21orf121 21 chromosome 21 open reading frame 121 C21orf128 21q22.3 chromosome 21 open reading frame 128 FLJ36335 21q22.3 hypothetical protein FLJ36335 ABCG1 21q22.3 ATP-binding cassette, sub-family G (WHITE), member 1 TFF3 21q22.3 trefoil factor 3 (intestinal) TFF2 21q22.3 trefoil factor 2 (spasmolytic protein 1) TFF1 21q22.3 trefoil factor 1 (breast cancer, estrogen-inducible sequence expressed in) TMPRSS3 21q22.3 transmembrane protease, serine 3 UBASH3A 21q22.3 ubiquitin associated and SH3 domain containing, A TSGA2 21q22.3 testes specific A2 homolog (mouse) SLC37A1 21q22.3 solute carrier family 37 (glycerol-3-phosphate transporter), member 1 PDE9A 21q22.3 phosphodiesterase 9A WDR4 21q22.3 WD repeat domain 4 NDUFV3 21q22.3 NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa PKNOX1 21q22.3 PBX/knotted 1 homeobox 1 CBS 21q22.3 cystathionine-beta-synthase U2AF1 21q22.3 U2(RNU2) small nuclear RNA auxillary factor 1 MRPL51P2 21q22.3 U2(RNU2) small nuclear RNA auxillary factor 1 LOC388829 21 LOC388829 CRYAA 21q22.3 crystallin, alpha A SNF1LK 21q22.3 SNF1-like kinase C21orf125 21 chromosome 21 open reading frame 125 C21orf84 21q22.1 chromosome 21 open reading frame 84
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    13 - 2463 49 454 . strongly expressed in liver, cochlea, brain, cerebellum, spleen, lung, and muscle and at a lower degree in retina, kidney, and heart 2011 21454591
    also called TMPRSS3-3a
    9 splicing 1359 - 344 .widely .cochlea 2011 21454591
  • also called TMPRSS3-3d
  • lacking exons 10, 11, 12, 13
  • could play a unique role in the cochlea
  • EXPRESSION
    Rna function mRNA is localized in sensory hair cells in the cochlea and the vestibule
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivestomach   highly Homo sapiens
    Hearing/Equilibriumearinnercochlea   Homo sapiens
     earinnercochleaCorti 
    Lymphoid/Immunethymus   highly Homo sapiens
    Reproductivefemale systemuteruscervix highly
     male systemtestis  highly Homo sapiens
    Respiratoryrespiratory tracttrachea  highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialsensorystato-auditory   Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Hearing / Equilibriumhair cell receptor Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text cochlea, eye retina choroid, RPE, lens , anterior segment
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a transmembrane domain located near the N terminus
  • a scavenger-receptor cysteine-rich (SRCR), involved in protein-protein interaction
  • serine protease domains
  • a low density lipoprotein receptor A domain (LDLRA domain), which binds calcium
  • a C-terminal serine protease domain from the S1 family of the SA clan of serine-type peptidases for which the prototype is chymotrypsin
  • mono polymer monomer
    HOMOLOGY
    interspecies ortholog to murine Mmu17
    Homologene
    FAMILY
  • protease family
  • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    text type II transmembrane serine protease
    basic FUNCTION
  • playing a role in development and maintenance of inner ear
  • 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
  • potentially having a crucial role in the final steps of hair cell morphological/functional maturation
  • required for their proper functioning at the onset of hearing (
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling sensory transduction/hearing
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • SCNN1A in the inner ear
  • lack of TMPRSS3 leads to a decrease in KCNMA1 potassium channels expression in inner hair cells (IHCs)
  • cell & other
    REGULATION
    inhibited by SERPINB5
    ASSOCIATED DISORDERS
    corresponding disease(s) DFNB8 , DFNB10
    related resource Hereditary Hearing Loss Homepage
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in breast and ovary tumors
    constitutional   insertion    
    beta satellite insertion
    tumoral     --over  
    in epithelial ovarian cancer
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancerreproductiveovary
    may represent an attractive target for immunotherapy of ovarian cancer
    ANIMAL & CELL MODELS
  • Tmprss3Y260X homozygous mutation leads to syndromic autosomal recessive profound hearing loss in mice associated with a mild vestibular deficit