| Written | 2005-07 | Malte Buchholz, Thomas M Gress |
| Universitât Ulm, Abteilung Innere Medizin I, Robert-Koch-Str. 8,89081 Ulm, Germany |
| Identity |
| Alias_names | DFNB10 |
| DFNB8 | |
| "transmembrane protease, serine 3" | |
| Other alias | DFNB10 (deafness, autosomal recessive 10) |
| DFNB8 (deafness, autosomal recessive 8) | |
| TADG12 (Tumor associated differentially-expressed gene-12 protein) | |
| ECHOS1 | |
| HGNC (Hugo) | TMPRSS3 |
| 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 |
| 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 |
| Note | |
| 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. |
| Bibliography |
| 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 |
| 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 journal version : [ pdf ] [ DOI ] |
| On line version : http://AtlasGeneticsOncology.org/Genes/TMPRSS3ID42593ch21q22.html |
| External links |
| REVIEW articles | automatic search in PubMed |
| Last year publications | automatic search in PubMed |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Tue Jun 30 20:52:16 CEST 2020 |
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