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    TMPRSS3 transmembrane serine protease 3 [ Homo sapiens (human) ]

    Gene ID: 64699, updated on 5-Mar-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    Genotype-Phenotype Correlations in TMPRSS3 (DFNB10/DFNB8) with Emphasis on Natural History.

    Genotype-Phenotype Correlations in TMPRSS3 (DFNB10/DFNB8) with Emphasis on Natural History.
    Nisenbaum E, Yan D, Shearer AE, de Joya E, Thielhelm T, Russell N, Staecker H, Chen Z, Holt JR, Liu X., Free PMC Article

    02/9/2024
    TMPRSS3 expression is limited in spiral ganglion neurons: implication for successful cochlear implantation.

    TMPRSS3 expression is limited in spiral ganglion neurons: implication for successful cochlear implantation.
    Chen YS, Cabrera E, Tucker BJ, Shin TJ, Moawad JV, Totten DJ, Booth KT, Nelson RF., Free PMC Article

    12/3/2022
    Upregulation of the transmembrane protease serine 3 mRNA level in radioresistant colorectal cancer tissues.

    Upregulation of the transmembrane protease serine 3 mRNA level in radioresistant colorectal cancer tissues.
    Wen JY, Fang YY, Chen G, He RQ, Huang HQ, Wang RS, Zeng DT, Huang WJ, Qin XG.

    06/25/2022
    Novel Mutations in the TMPRSS3 Gene may Contribute to Taiwanese Patients with Nonsyndromic Hearing Loss.

    Novel Mutations in the TMPRSS3 Gene may Contribute to Taiwanese Patients with Nonsyndromic Hearing Loss.
    Wong SH, Yen YC, Li SY, Yang JJ., Free PMC Article

    01/9/2021
    Mutational analysis and prenatal diagnosis of TMPRSS3 gene in two Chinese families affected with deafness

    [Mutational analysis and prenatal diagnosis of TMPRSS3 gene in two Chinese families affected with deafness].
    Ren SM, Wu QH, Chen C, Kong XD.

    08/12/2020
    TMPRSS3 is an important molecule in the regulation of cell viability and cell apoptosis of HEI-OC1 cells. Its functions are dependent on the circ-Slc41a2, miR-182 and Akt cascade.

    TMPRSS3 regulates cell viability and apoptosis processes of HEI-OC1 cells via regulation of the circ-Slc4a2, miR-182 and Akt cascade.
    Zhang ZW, Pang B, Chen YC, Peng AQ.

    07/18/2020
    These data provide evidence against TMPRSS3/GJB2 digenic inheritance of hearing loss.

    Overinterpretation of high throughput sequencing data in medical genetics: first evidence against TMPRSS3/GJB2 digenic inheritance of hearing loss.
    Ołdak M, Lechowicz U, Pollak A, Oziębło D, Skarżyński H., Free PMC Article

    06/27/2020
    Complex genomic rearrangement and a novel missense mutation in TMPRSS3 were identified in Chinese cases with prelingual hearing loss.

    Identification of a complex genomic rearrangement in TMPRSS3 by massively parallel sequencing in Chinese cases with prelingual hearing loss.
    Li X, Tan B, Wang X, Xu X, Wang C, Zhong M, Zhao Q, Bao Z, Peng W, Zhang L, Cheng J, Lu Y, Wu P, Yuan H., Free PMC Article

    05/30/2020
    Pathogenic variants in TMPRSS3 may impact function of the spiral ganglion.

    In Vivo Electrocochleography in Hybrid Cochlear Implant Users Implicates TMPRSS3 in Spiral Ganglion Function.
    Shearer AE, Tejani VD, Brown CJ, Abbas PJ, Hansen MR, Gantz BJ, Smith RJH., Free PMC Article

    11/2/2019
    TMPRSS3 proteolysis is linked to hair cell sterociliary mechanics and to the actin/microtubule networks that support cell motility and integrity.

    Expression of trans-membrane serine protease 3 (TMPRSS3) in the human organ of Corti.
    Liu W, Löwenheim H, Santi PA, Glueckert R, Schrott-Fischer A, Rask-Andersen H., Free PMC Article

    04/6/2019
    TMPRSS3 contributed to gastric cancer progression via activation of the PI3K/Akt/ERK signaling pathway.

    Knockdown of TMPRSS3 inhibits gastric cancer cell proliferation, invasion and EMT via regulation of the ERK1/2 and PI3K/Akt pathways.
    Li SL, Chen X, Wu T, Zhang XW, Li H, Zhang Y, Ji ZZ.

    12/29/2018
    Pathogenic variants in the TMPRSS3 gene in a cohort of 2247 subjects with sensorineural hearing loss represented 13 different rare TMPRSS3 variants, nine of which were novel.

    Iterative Sequencing and Variant Screening (ISVS) as a novel pathogenic mutations search strategy - application for TMPRSS3 mutations screen.
    Lechowicz U, Gambin T, Pollak A, Podgorska A, Stawinski P, Franke A, Petersen BS, Firczuk M, Oldak M, Skarzynski H, Ploski R., Free PMC Article

    12/22/2018
    knockdown of TMPRSS3 inhibits proliferation, migration, and invasion in human nasopharyngeal carcinoma cells through the inactivation of the PI3K/Akt signaling pathway. This study suggests that TMPRSS3 may be a potential therapeutic target for the treatment of nasopharyngeal carcinoma

    Knockdown of TMPRSS3, a Transmembrane Serine Protease, Inhibits Proliferation, Migration, and Invasion in Human Nasopharyngeal Carcinoma Cells.
    Wang JY, Jin X, Li XF., Free PMC Article

    08/18/2018
    For those with a combination of severely pathogenic TMPRSS3 variants, rapid aggravation of the residual hearing should be anticipated and treated accordingly. Our confirmation of the genotype-phenotype correlation of the TMPRSS3 gene may pave the way for the establishment of a personalized auditory rehabilitation.

    The Analysis of A Frequent TMPRSS3 Allele Containing P.V116M and P.V291L in A Cis Configuration among Deaf Koreans.
    Kim AR, Chung J, Kim NKD, Lee C, Park WY, Oh DY, Choi BY., Free PMC Article

    06/9/2018
    Our results indicate that mutations in TMPRSS3 account for about 4.6% (7/151) of Chinese autosomal recessive nonsyndromic hearing loss cases lacking mutations in SLC26A4 or GJB2 and that the recurrent TMPRSS3 mutation p.Ala306Thr is likely to be a founder mutation.

    Identification of TMPRSS3 as a Significant Contributor to Autosomal Recessive Hearing Loss in the Chinese Population.
    Gao X, Huang SS, Yuan YY, Xu JC, Gu P, Bai D, Kang DY, Han MY, Wang GJ, Zhang MG, Li J, Dai P., Free PMC Article

    04/28/2018
    Given that a previous paper suggested TMPRSS3 and GJB2 genes as responsible for a digenic form of hearing loss, our data support and reinforce this hypothesis.

    Putative TMPRSS3/GJB2 digenic inheritance of hearing loss detected by targeted resequencing.
    Leone MP, Palumbo P, Ortore R, Castellana S, Palumbo O, Melchionda S, Palladino T, Stallone R, Mazza T, Cocchi R, Carella M.

    03/10/2018
    In conclusion, TMPRSS3 and TNFRSF11B may have potential prognostic value to be used as tumor biomarkers in breast cancer patients.

    Dysregulation of TMPRSS3 and TNFRSF11B correlates with tumorigenesis and poor prognosis in patients with breast cancer.
    Luo P, Lu G, Fan LL, Zhong X, Yang H, Xie R, Lv Z, Lv QZ, Fu D, Yang LX, Ma Y.

    04/22/2017
    different combinations of TMPRSS3 mutations led to different hearing impairment phenotypes (DFNB8/DFNB10) in the Chinese family.

    Novel Mutations and Mutation Combinations of TMPRSS3 Cause Various Phenotypes in One Chinese Family with Autosomal Recessive Hearing Impairment.
    Gao X, Yuan YY, Wang GJ, Xu JC, Su Y, Lin X, Dai P., Free PMC Article

    03/18/2017
    TMPRSS3 mutations seem to be an important cause of autosomal recessive nonsyndromic hearing loss in Slovenia resulting in rather uniform phenotype with profound congenital hearing loss.

    TMPRSS3 mutations in autosomal recessive nonsyndromic hearing loss.
    Battelino S, Klancar G, Kovac J, Battelino T, Trebusak Podkrajsek K.

    12/17/2016
    Study demonstrated that TMPRSS3 contributes to ovarian cancer cell proliferation, invasion and metastasis, probably via activation of the ERK1/2 signaling pathway.

    TMPRSS3 modulates ovarian cancer cell proliferation, invasion and metastasis.
    Zhang D, Qiu S, Wang Q, Zheng J.

    10/22/2016
    TMPRSS3 expression is an independent prognostic factor for breast cancer patients. Bioinformatic analysis of potential TMPRSS3 binding proteins revealed that TMPRSS3 could be a key regulator of cancer pathways.

    TMPRSS3 is a novel poor prognostic factor for breast cancer.
    Rui X, Li Y, Jin F, Li F., Free PMC Article

    05/28/2016
    Low expression levels of hepsin and TMPRSS3 are associated with poor breast cancer survival

    Low expression levels of hepsin and TMPRSS3 are associated with poor breast cancer survival.
    Pelkonen M, Luostari K, Tengström M, Ahonen H, Berdel B, Kataja V, Soini Y, Kosma VM, Mannermaa A., Free PMC Article

    02/6/2016
    Single nucleotide polymorphisms in TMPRSS3 (rs3814903 and rs11203200) are significantly associated with breast cancer risk.

    Type II transmembrane serine protease gene variants associate with breast cancer.
    Luostari K, Hartikainen JM, Tengström M, Palvimo JJ, Kataja V, Mannermaa A, Kosma VM., Free PMC Article

    11/28/2015
    homozygous mutation TMPRSS3: c.535G>A causes prelingual hearing loss in this Tibetan family

    Identification of a novel homozygous mutation, TMPRSS3: c.535G>A, in a Tibetan family with autosomal recessive non-syndromic hearing loss.
    Fan D, Zhu W, Li D, Ji D, Wang P., Free PMC Article

    08/1/2015
    The prevalence of TMPRSS3 mutations among Korean postlingual hearing loss is 8.3 %. The p.A306T variant of TMPRSS3 is the common founder allele in Koreans. A novel variant, p.T248M of TMPRSS3, was predicted to have milder pathogenicity.

    A novel mutation of TMPRSS3 related to milder auditory phenotype in Korean postlingual deafness: a possible future implication for a personalized auditory rehabilitation.
    Chung J, Park SM, Chang SO, Chung T, Lee KY, Kim AR, Park JH, Kim V, Park WY, Oh SH, Kim D, Park WJ, Choi BY.

    01/10/2015
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