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TMPRSS3 (transmembrane protease, serine 3)

Identity

Other namesDFNB10 (deafness, autosomal recessive 10)
DFNB8 (deafness, autosomal recessive 8)
TADG12 (Tumor associated differentially-expressed gene-12 protein)
ECHOS1
HGNC (Hugo) TMPRSS3
LocusID (NCBI) 64699
Location 21q22.3
Location_base_pair Starts at 43791996 and ends at 43816200 bp from pter ( according to hg19-Feb_2009)  [Mapping]
Note Not to be confused with TMPRSS4 (11q23.3), which was originally named TMPRSS3

DNA/RNA

Description 13 exons spanning 24 kb
Transcription Four alternative splice isoforms have been described, producing transcripts of 1.3 kb, 2.1 kb, 2.4 kb and 2.5 kb, respectively

Protein

Description Isoform A (full length) is 454 amino acids; isoforms B and C lack 127 aa at the N-terminus due to alternative splicing; isoform D is 344 aa and has a unique C-terminus due to alternative splicing. The full length isoform comprises an LDL-receptor A domain, a Scavenger receptor (Srcr) domain and a peptidase S1 S6 domain,
Expression Expressed in many fetal and adult tissues
Localisation Transmembrane
Function Transmembrane serine protease; exact function unknown

Mutations

Germinal Insertion, frameshift and missense mutations in the TMPRSS3 gene have been described in familial congenital (DFNB10) and childhood onset (DFNB8) deafness.

Implicated in

Entity Autosomal recessive neurosensory deafness; childhood-onset deafness (DFNB8); Autosomal recessive neurosensory deafness; congenital deafness (DFNB10)
  
Entity Ovarian Cancer
Disease Variant D of TMPRSS3 has been reported to be overexpressed in ovarian carcinomas and has been proposed as a novel diagnostic marker.
Prognosis High expression of variant D is correlated with advanced clinical stages of the disease.
  
Entity Pancreatic Cancer
Disease TMPRSS3 has been reported to be overexpressed in pancreatic cancer. No information on splice variants or prognostic value is available.
  

External links

Nomenclature
HGNC (Hugo)TMPRSS3   11877
Cards
AtlasTMPRSS3ID42593ch21q22
Entrez_Gene (NCBI)TMPRSS3  64699  transmembrane protease, serine 3
GeneCards (Weizmann)TMPRSS3
Ensembl (Hinxton)ENSG00000160183 [Gene_View]  chr21:43791996-43816200 [Contig_View]  TMPRSS3 [Vega]
ICGC DataPortalENSG00000160183
cBioPortalTMPRSS3
AceView (NCBI)TMPRSS3
Genatlas (Paris)TMPRSS3
WikiGenes64699
SOURCE (Princeton)NM_001256317 NM_024022 NM_032401 NM_032404 NM_032405
Genomic and cartography
GoldenPath (UCSC)TMPRSS3  -  21q22.3   chr21:43791996-43816200 -  21q22.3   [Description]    (hg19-Feb_2009)
EnsemblTMPRSS3 - 21q22.3 [CytoView]
Mapping of homologs : NCBITMPRSS3 [Mapview]
OMIM605511   
Gene and transcription
Genbank (Entrez)AB038157 AB038158 AB038159 AB038160 AF201380
RefSeq transcript (Entrez)NM_001256317 NM_024022 NM_032401 NM_032404 NM_032405
RefSeq genomic (Entrez)AC_000153 NC_000021 NC_018932 NG_011629 NT_011512 NW_001838714 NW_004929427
Consensus coding sequences : CCDS (NCBI)TMPRSS3
Cluster EST : UnigeneHs.208600 [ NCBI ]
CGAP (NCI)Hs.208600
Alternative Splicing : Fast-db (Paris)GSHG0019728
Alternative Splicing GalleryENSG00000160183
Gene ExpressionTMPRSS3 [ NCBI-GEO ]     TMPRSS3 [ SEEK ]   TMPRSS3 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP57727 (Uniprot)
NextProtP57727  [Medical]
With graphics : InterProP57727
Splice isoforms : SwissVarP57727 (Swissvar)
Catalytic activity : Enzyme3.4.21.- [ Enzyme-Expasy ]   3.4.21.-3.4.21.- [ IntEnz-EBI ]   3.4.21.- [ BRENDA ]   3.4.21.- [ KEGG ]   
Domaine pattern : Prosite (Expaxy)LDLRA_1 (PS01209)    LDLRA_2 (PS50068)    SRCR_1 (PS00420)    SRCR_2 (PS50287)    TRYPSIN_DOM (PS50240)    TRYPSIN_HIS (PS00134)    TRYPSIN_SER (PS00135)   
Domains : Interpro (EBI)LDLR_class-A_CS [organisation]   LDrepeatLR_classA_rpt [organisation]   Peptidase_S1 [organisation]   Peptidase_S1_AS [organisation]   Peptidase_S1A [organisation]   SRCR [organisation]   SRCR-like_dom [organisation]   Trypsin-like_Pept_dom [organisation]  
Related proteins : CluSTrP57727
Domain families : Pfam (Sanger)Ldl_recept_a (PF00057)    Trypsin (PF00089)   
Domain families : Pfam (NCBI)pfam00057    pfam00089   
Domain families : Smart (EMBL)LDLa (SM00192)  SR (SM00202)  Tryp_SPc (SM00020)  
DMDM Disease mutations64699
Blocks (Seattle)P57727
Human Protein AtlasENSG00000160183 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasP57727
HPRD05696
IPIIPI00743692   IPI01010471   IPI00220533   IPI00220534   IPI00027977   IPI01021651   IPI00792947   
Protein Interaction databases
DIP (DOE-UCLA)P57727
IntAct (EBI)P57727
FunCoupENSG00000160183
BioGRIDTMPRSS3
InParanoidP57727
Interologous Interaction database P57727
IntegromeDBTMPRSS3
STRING (EMBL)TMPRSS3
Ontologies - Pathways
Ontology : AmiGOserine-type endopeptidase activity  scavenger receptor activity  endoplasmic reticulum  endoplasmic reticulum membrane  proteolysis  cellular sodium ion homeostasis  receptor-mediated endocytosis  sensory perception of sound  integral component of membrane  sodium channel regulator activity  neuronal cell body  
Ontology : EGO-EBIserine-type endopeptidase activity  scavenger receptor activity  endoplasmic reticulum  endoplasmic reticulum membrane  proteolysis  cellular sodium ion homeostasis  receptor-mediated endocytosis  sensory perception of sound  integral component of membrane  sodium channel regulator activity  neuronal cell body  
Protein Interaction DatabaseTMPRSS3
Wikipedia pathwaysTMPRSS3
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)TMPRSS3
snp3D : Map Gene to Disease64699
SNP (GeneSNP Utah)TMPRSS3
SNP : HGBaseTMPRSS3
Genetic variants : HAPMAPTMPRSS3
Exome VariantTMPRSS3
1000_GenomesTMPRSS3 
ICGC programENSG00000160183 
Somatic Mutations in Cancer : COSMICTMPRSS3 
CONAN: Copy Number AnalysisTMPRSS3 
Mutations and Diseases : HGMDTMPRSS3
Mutations and Diseases : intOGenTMPRSS3
Genomic VariantsTMPRSS3  TMPRSS3 [DGVbeta]
dbVarTMPRSS3
ClinVarTMPRSS3
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM605511   
MedgenTMPRSS3
GENETestsTMPRSS3
Disease Genetic AssociationTMPRSS3
Huge Navigator TMPRSS3 [HugePedia]  TMPRSS3 [HugeCancerGEM]
General knowledge
Homologs : HomoloGeneTMPRSS3
Homology/Alignments : Family Browser (UCSC)TMPRSS3
Phylogenetic Trees/Animal Genes : TreeFamTMPRSS3
Chemical/Protein Interactions : CTD64699
Chemical/Pharm GKB GenePA36578
Clinical trialTMPRSS3
Cancer Resource (Charite)ENSG00000160183
Other databases
Probes
Litterature
PubMed37 Pubmed reference(s) in Entrez
CoreMineTMPRSS3
iHOPTMPRSS3
OncoSearchTMPRSS3

Bibliography

Novel mutations of TMPRSS3 in four DFNB8/B10 families segregating congenital autosomal recessive deafness.
Ben-Yosef T, Wattenhofer M, Riazuddin S, Ahmed ZM, Scott HS, Kudoh J, Shibuya K, Antonarakis SE, Bonne-Tamir B, Radhakrishna U, Naz S, Ahmed Z, Riazuddin S, Pandya A, Nance WE, Wilcox ER, Friedman TB, Morell RJ
Journal of medical genetics. 2001 ; 38 (6) : 396-400.
PMID 11424922
 
Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness.
Scott HS, Kudoh J, Wattenhofer M, Shibuya K, Berry A, Chrast R, Guipponi M, Wang J, Kawasaki K, Asakawa S, Minoshima S, Younus F, Mehdi SQ, Radhakrishna U, Papasavvas MP, Gehrig C, Rossier C, Korostishevsky M, Gal A, Shimizu N, Bonne-Tamir B, Antonarakis SE
Nature genetics. 2001 ; 27 (1) : 59-63.
PMID 11137999
 
Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients.
Wattenhofer M, Di Iorio MV, Rabionet R, Dougherty L, Pampanos A, Schwede T, Montserrat-Sentis B, Arbones ML, Iliades T, Pasquadibisceglie A, D'Amelio M, Alwan S, Rossier C, Dahl HH, Petersen MB, Estivill X, Gasparini P, Scott HS, Antonarakis SE
Journal of molecular medicine (Berlin, Germany). 2002 ; 80 (2) : 124-131.
PMID 11907649
 
Highly expressed genes in pancreatic ductal adenocarcinomas: a comprehensive characterization and comparison of the transcription profiles obtained from three major technologies.
Iacobuzio-Donahue CA, Ashfaq R, Maitra A, Adsay NV, Shen-Ong GL, Berg K, Hollingsworth MA, Cameron JL, Yeo CJ, Kern SE, Goggins M, Hruban RH
Cancer research. 2003 ; 63 (24) : 8614-8622.
PMID 14695172
 
Pathogenic mutations but not polymorphisms in congenital and childhood onset autosomal recessive deafness disrupt the proteolytic activity of TMPRSS3.
Lee YJ, Park D, Kim SY, Park WJ
Journal of medical genetics. 2003 ; 40 (8) : 629-631.
PMID 12920079
 
Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan.
Ahmed ZM, Li XC, Powell SD, Riazuddin S, Young TL, Ramzan K, Ahmad Z, Luscombe S, Dhillon K, MacLaren L, Ploplis B, Shotland LI, Ives E, Riazuddin S, Friedman TB, Morell RJ, Wilcox ER
BMC medical genetics. 2004 ; 5 : page 24.
PMID 15447792
 
The transmembrane protease serine (TMPRSS3/TADG-12) D variant: a potential candidate for diagnosis and therapeutic intervention in ovarian cancer.
Sawasaki T, Shigemasa K, Gu L, Beard JB, O'Brien TJ
Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine. 2004 ; 25 (3) : 141-148.
PMID 15361711
 
A novel TMPRSS3 missense mutation in a DFNB8/10 family prevents proteolytic activation of the protein.
Wattenhofer M, Sahin-Calapoglu N, Andreasen D, Kalay E, Caylan R, Braillard B, Fowler-Jaeger N, Reymond A, Rossier BC, Karaguzel A, Antonarakis SE
Human genetics. 2005 ; 117 (6) : 528-535.
PMID 16021470
 
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Contributor(s)

Written07-2005Malte Buchholz, Thomas M Gress
Universitšt Ulm, Abteilung Innere Medizin I, Robert-Koch-Str. 8,89081 Ulm, Germany

Citation

This paper should be referenced as such :
Buchholz, M ; Gress, TM
TMPRSS3 (transmembrane protease, serine 3)
Atlas Genet Cytogenet Oncol Haematol. 2005;9(4):303-304.
Free online version   Free pdf version   [Bibliographic record ]
URL : http://AtlasGeneticsOncology.org/Genes/TMPRSS3ID42593ch21q22.html

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indexed on : Tue Aug 26 15:24:31 CEST 2014

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