Ask about this productRelated genes to: TMPRSS5 antibody
- Gene:
- TMPRSS5 NIH gene
- Name:
- transmembrane serine protease 5
- Previous symbol:
- -
- Synonyms:
- MGC141886, MGC148044
- Chromosome:
- 11q23.2
- Locus Type:
- gene with protein product
- Date approved:
- 2001-04-05
- Date modifiied:
- 2018-01-19
Related products to: TMPRSS5 antibody
Related articles to: TMPRSS5 antibody
- To explore associations between circulating proteomic pathways and structural, functional, and symptomatic measures of small- and large-fiber neuropathy and corneal immune activation in people with Type 2 diabetes (T2D). - Source: PubMed
Publication date: 2026/03/18
Ponirakis GeorgiosAl-Janahi IbrahimElgassim EinasDalloul Rajaa S DPetropoulos Ioannis NGad HodaKhan AdnanZaghloul Hadeel BAli HamdaSiddique Mashhood AMohamed Fatima F SAhmed Lina H MDakroury YoussraEl Shewehy Abeer M MSaeid RubaMahjoub FadwaAl-Noubi Muna NSarwath HinaPaul PradiptaKaul RidhimaSalivon IuliiaZirie Mahmoud AAl-Ansari YousufAtkin Stephen LSchmidt FrankMalik Rayaz A - Copy number variants (CNVs) are key drivers of human diversity and disease risk. Here we evaluate the role of CNVs across a broad range of human phenotypes and diseases by analysing CNVs from 470,727 UK Biobank whole-genome sequences and conducting a variant- and gene-level phenome-wide association study (PheWAS) with 2,941 plasma protein abundance measurements, 13,336 binary clinical phenotypes and 1,911 quantitative traits. Proteomic analyses validated functional associations of CNVs with nearby genes (cis-protein quantitative trait loci; cis-pQTLs)-with deletions and duplications typically associated with reduced and increased protein levels, respectively-and uncovered previously unknown protein-protein interactions (trans-pQTLs). Our PheWAS recapitulated known associations and uncovered associations in both coding and non-coding regions. Notably, we identified a rare deletion in ZNF451 associated with increased leukocyte telomere length and a non-coding deletion of a SLC2A9 enhancer associated with reduced gout risk. In addition, by combining CNVs with protein-coding single nucleotide variants and indels, we enhanced the power of our study to detect gene-disease associations. Finally, we leveraged this multiomics dataset to identify several pQTLs that constitute candidate biomarkers, including TMPRSS5 for Charcot-Marie-Tooth disease type 1A. This multiancestry whole-genome-sequence CNV PheWAS offers insights into the roles of CNVs in human health outcomes and could serve as a valuable resource for therapeutic development. - Source: PubMed
Publication date: 2026/02/04
Zou Xueqing ZoeHu FengyuanLou HaiyiBurren Oliver SLi XiaoyinMegy KarynWheeler EleanorWu QiangAtanur Santosh SKarpinski MarcinLoesch DouglasFairhurst-Hunter ZammyDeevi Sri V VOerton ErinWen SeanJiang XiaoSalvoro CeciliaMitchell JonathanNag AbhishekHollis BenO'Neill Amanda Harrow JenMacArthur StewartWasilewski SebastianO'Dell SeanTian LifengSmith Katherine RDel Angel GuillermoFabre MargareteDhindsa Ryan SWang QuanliPetrovski SlavéCarss Keren - Analyses of genomic and proteomics data in prospective biobank studies in diverse populations may discover novel or repurposing drug targets for stroke. - Source: PubMed
Publication date: 2025/04/30
Yao PangMazidi MohsenPozarickij AlfredIona AndriWright NeilLin KuangMillwood Iona YFry HannahKartsonaki ChristianaChen YipingYang LingDu HuaidongAvery DanielSchmidt-Valle DanSun DianjianyiPei PeiLv JunYu CanqingHill MichaelBennett Derrick AWalters Robin GLi LimingClarke RobertChen Zhengming - Stroke is the second leading cause of death with substantial unmet therapeutic needs. To identify potential stroke therapeutic targets, we estimate the causal effects of 308 plasma proteins on stroke outcomes in a two-sample Mendelian randomization framework and assess mediation effects by stroke risk factors. We find associations between genetically predicted plasma levels of six proteins and stroke (P ≤ 1.62 × 10). The genetic associations with stroke colocalize (Posterior Probability >0.7) with the genetic associations of four proteins (TFPI, TMPRSS5, CD6, CD40). Mendelian randomization supports atrial fibrillation, body mass index, smoking, blood pressure, white matter hyperintensities and type 2 diabetes as stroke risk factors (P ≤ 0.0071). Body mass index, white matter hyperintensity and atrial fibrillation appear to mediate the TFPI, IL6RA, TMPRSS5 associations with stroke. Furthermore, thirty-six proteins are associated with one or more of these risk factors using Mendelian randomization. Our results highlight causal pathways and potential therapeutic targets for stroke. - Source: PubMed
Publication date: 2022/10/17
Chen LingyanPeters James EPrins BramPersyn ElodieTraylor MatthewSurendran PraveenKarthikeyan SavitaYonova-Doing EkaterinaDi Angelantonio EmanueleRoberts David JWatkins Nicholas AOuwehand Willem HDanesh JohnLewis Cathryn MBronson Paola GMarkus Hugh SBurgess StephenButterworth Adam SHowson Joanna M M - Traditionally, neurophysiology is the primary diagnostic and prognostic biomarker in peripheral neuropathy clinical practice; however, it may lack responsiveness in the context of slowly progressive neuropathies and where there is significant axonal damage. The development of ultrasensitive platforms for measuring serum proteins at the lower limit of detection of traditional ELISA techniques has transformed the field of blood biomarkers of peripheral neuropathy. A variety of blood biomarkers have been identified from inflammatory cytokines and apokines in diabetic neuropathy through to neuron-specific proteins such as neurofilament light chain, Schwann cell-specific proteins such as TMPRSS5 and microRNAs in other acquired and hereditary neuropathies. In this article, we review blood biomarkers of disease activity for the common subtypes of peripheral neuropathy including inflammatory demyelinating neuropathies, vasculitic neuropathy, diabetic neuropathy, chemotherapy-induced neuropathy and Charcot-Marie-Tooth disease and related disorders including TTR amyloidosis. - Source: PubMed
Publication date: 2022/05/25
Rossor Alexander MReilly Mary M