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TMPRSS3 (transmembrane protease, serine 3)

Written2005-07Malte Buchholz, Thomas M Gress
Universitât Ulm, Abteilung Innere Medizin I, Robert-Koch-Str. 8,89081 Ulm, Germany

(Note : for Links provided by Atlas : click)


Alias (NCBI)DFNB10 (deafness, autosomal recessive 10)
DFNB8 (deafness, autosomal recessive 8)
TADG12 (Tumor associated differentially-expressed gene-12 protein)
HGNC Previous nameDFNB10
HGNC Previous nametransmembrane protease, serine 3
LocusID (NCBI) 64699
Atlas_Id 42593
Location 21q22.3  [Link to chromosome band 21q22]
Location_base_pair Starts at 42381876 and ends at 42396052 bp from pter ( according to hg19-Feb_2009)  [Mapping TMPRSS3.png]
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
TMPRSS3 (21q22.3) / MYO5B (18q21.1)
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.


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
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
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
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
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
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


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 ]
On line version :

External links

HGNC (Hugo)TMPRSS3   11877
Entrez_Gene (NCBI)TMPRSS3  64699  transmembrane serine protease 3
AliasesDFNB10; DFNB8; ECHOS1; TADG12
GeneCards (Weizmann)TMPRSS3
Ensembl hg19 (Hinxton)ENSG00000160183 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000160183 [Gene_View]  ENSG00000160183 [Sequence]  chr21:42381876-42396052 [Contig_View]  TMPRSS3 [Vega]
ICGC DataPortalENSG00000160183
Genatlas (Paris)TMPRSS3
Genetics Home Reference (NIH)TMPRSS3
Genomic and cartography
GoldenPath hg38 (UCSC)TMPRSS3  -     chr21:42381876-42396052 -  21q22.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TMPRSS3  -     21q22.3   [Description]    (hg19-Feb_2009)
GoldenPathTMPRSS3 - 21q22.3 [CytoView hg19]  TMPRSS3 - 21q22.3 [CytoView hg38]
genome Data Viewer NCBITMPRSS3 [Mapview hg19]  
OMIM601072   605511   
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)
Consensus coding sequences : CCDS (NCBI)TMPRSS3
Alternative Splicing GalleryENSG00000160183
Gene Expression Viewer (FireBrowse)TMPRSS3 [ Firebrowse - Broad ]
GenevisibleExpression of TMPRSS3 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)64699
GTEX Portal (Tissue expression)TMPRSS3
Human Protein AtlasENSG00000160183-TMPRSS3 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP57727   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP57727  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP57727
Splice isoforms : SwissVarP57727
Catalytic activity : Enzyme3.4.21.- [ Enzyme-Expasy ]   3.4.21.-3.4.21.- [ IntEnz-EBI ]   3.4.21.- [ BRENDA ]   3.4.21.- [ KEGG ]   [ MEROPS ]
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)LDL_receptor-like_sf    LDLR_class-A_CS    LDrepeatLR_classA_rpt    Peptidase_S1_PA    Peptidase_S1A    SRCR    SRCR-like_dom    SRCR-like_dom_sf    Trypsin_dom    TRYPSIN_HIS    TRYPSIN_SER   
Domain families : Pfam (Sanger)Ldl_recept_a (PF00057)    SRCR_2 (PF15494)    Trypsin (PF00089)   
Domain families : Pfam (NCBI)pfam00057    pfam15494    pfam00089   
Domain families : Smart (EMBL)LDLa (SM00192)  SR (SM00202)  Tryp_SPc (SM00020)  
Conserved Domain (NCBI)TMPRSS3
DMDM Disease mutations64699
Blocks (Seattle)TMPRSS3
Human Protein Atlas [tissue]ENSG00000160183-TMPRSS3 [tissue]
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  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  endocytosis  sensory perception of sound  integral component of membrane  sodium channel regulator activity  neuronal cell body  
Atlas of Cancer Signalling NetworkTMPRSS3
Wikipedia pathwaysTMPRSS3
Orthology - Evolution
GeneTree (enSembl)ENSG00000160183
Phylogenetic Trees/Animal Genes : TreeFamTMPRSS3
Homologs : HomoloGeneTMPRSS3
Homology/Alignments : Family Browser (UCSC)TMPRSS3
Gene fusions - Rearrangements
Fusion : Fusion_HubNKX2-2--TMPRSS3    TMPRSS3--MYO5B    TMPRSS3--TFF1   
Fusion : QuiverTMPRSS3
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTMPRSS3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TMPRSS3
Exome Variant ServerTMPRSS3
GNOMAD BrowserENSG00000160183
Varsome BrowserTMPRSS3
Genetic variants : HAPMAP64699
Genomic Variants (DGV)TMPRSS3 [DGVbeta]
DECIPHERTMPRSS3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTMPRSS3 
ICGC Data PortalTMPRSS3 
TCGA Data PortalTMPRSS3 
Broad Tumor PortalTMPRSS3
OASIS PortalTMPRSS3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTMPRSS3  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DTMPRSS3
Mutations and Diseases : HGMDTMPRSS3
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
BioMutasearch TMPRSS3
DgiDB (Drug Gene Interaction Database)TMPRSS3
DoCM (Curated mutations)TMPRSS3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TMPRSS3 (select a term)
NCG6 (London) select TMPRSS3
Cancer3DTMPRSS3(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
OMIM601072    605511   
Genetic Testing Registry TMPRSS3
NextProtP57727 [Medical]
Target ValidationTMPRSS3
Huge Navigator TMPRSS3 [HugePedia]
snp3D : Map Gene to Disease64699
Clinical trials, drugs, therapy
Protein Interactions : CTD64699
Pharm GKB GenePA36578
Clinical trialTMPRSS3
canSAR (ICR)TMPRSS3 (select the gene name)
DataMed IndexTMPRSS3
PubMed59 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Jul 16 16:54:52 CEST 2020

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