Atlas of Genetics and Cytogenetics in Oncology and Haematology

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Taking over the Atlas
Dear Colleagues,
The Atlas, once more, is in great danger, and I will have to proceed to a collective economic lay-off of all the team involved in the Atlas before the begining of April 2015 (a foundation having suddenly withdrawn its commitment to support the Atlas). I ask you herein if any Scientific Society (a Society of Cytogenetics, of Clinical Genetics, of Hematology, or a Cancer Society, or any other...), any University and/or Hospital, any Charity, or any database would be interested in taking over the Atlas, in whole or in part. If taking charge of the whole lot is too big, a consortium of various actors could be the solution (I am myself trying to find partners). Could you please spread the information, contact the relevant authorities, and find partners.
Survival of the Atlas will be critically dependant upon your ability to find solutions (and urgently!).
Kind regards.
Jean-Loup Huret
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TMPRSS3 (transmembrane protease, serine 3)


Other namesDFNB10 (deafness, autosomal recessive 10)
DFNB8 (deafness, autosomal recessive 8)
TADG12 (Tumor associated differentially-expressed gene-12 protein)
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


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


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


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

HGNC (Hugo)TMPRSS3   11877
Entrez_Gene (NCBI)TMPRSS3  64699  transmembrane protease, serine 3
GeneCards (Weizmann)TMPRSS3
Ensembl hg19 (Hinxton)ENSG00000160183 [Gene_View]  chr21:43791996-43816200 [Contig_View]  TMPRSS3 [Vega]
Ensembl hg38 (Hinxton)ENSG00000160183 [Gene_View]  chr21:43791996-43816200 [Contig_View]  TMPRSS3 [Vega]
ICGC DataPortalENSG00000160183
Genatlas (Paris)TMPRSS3
Genomic and cartography
GoldenPath hg19 (UCSC)TMPRSS3  -     chr21:43791996-43816200 -  21q22.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)TMPRSS3  -     21q22.3   [Description]    (hg38-Dec_2013)
EnsemblTMPRSS3 - 21q22.3 [CytoView hg19]  TMPRSS3 - 21q22.3 [CytoView hg38]
Mapping of homologs : NCBITMPRSS3 [Mapview hg19]  TMPRSS3 [Mapview hg38]
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)NC_000021 NC_018932 NG_011629 NT_011512 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 ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
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    LDrepeatLR_classA_rpt    Peptidase_S1    Peptidase_S1_AS    Peptidase_S1A    SRCR    SRCR-like_dom    Trypsin-like_Pept_dom   
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
Peptide AtlasP57727
IPIIPI00743692   IPI01010471   IPI00220533   IPI00220534   IPI00027977   IPI01021651   IPI00792947   
Protein Interaction databases
IntAct (EBI)P57727
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
DoCM (Curated mutations)TMPRSS3
Wikipedia pathwaysTMPRSS3
Gene fusion - rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerTMPRSS3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TMPRSS3
Exome Variant ServerTMPRSS3
Genetic variants : HAPMAPTMPRSS3
Genomic Variants (DGV)TMPRSS3 [DGVbeta]
ICGC Data PortalENSG00000160183 
Somatic Mutations in Cancer : COSMICTMPRSS3 
CONAN: Copy Number AnalysisTMPRSS3 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)**PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
DECIPHER (Syndromes)21:43791996-43816200
Mutations and Diseases : HGMDTMPRSS3
NextProtP57727 [Medical]
Disease Genetic AssociationTMPRSS3
Huge Navigator TMPRSS3 [HugePedia]  TMPRSS3 [HugeCancerGEM]
snp3D : Map Gene to Disease64699
DGIdb (Drug Gene Interaction db)TMPRSS3
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
PubMed39 Pubmed reference(s) in Entrez


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
REVIEW articlesautomatic search in PubMed
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Written07-2005Malte Buchholz, Thomas M Gress
Universit├Ąt Ulm, Abteilung Innere Medizin I, Robert-Koch-Str. 8,89081 Ulm, Germany


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 journal version : [ pdf ]   [ DOI ]

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indexed on : Sat Mar 28 12:16:42 CET 2015

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