Ask about this productRelated genes to: GTF3C5 antibody
- Gene:
- GTF3C5 NIH gene
- Name:
- general transcription factor IIIC subunit 5
- Previous symbol:
- -
- Synonyms:
- TFiiiC2-63, TFIIIC63, TFIIICepsilon
- Chromosome:
- 9q34.13
- Locus Type:
- gene with protein product
- Date approved:
- 1999-03-16
- Date modifiied:
- 2015-11-09
Related products to: GTF3C5 antibody
Related articles to: GTF3C5 antibody
- Iron is essential for both humans and pathogens, yet its genetic regulation remains understudied in African populations. Here, we report genome-wide association studies of six iron-related biomarkers in 3928 children from five sites across Africa, with replication in 2868 African American adults and investigate associations with severe malaria and bacteremia. We identify previously unreported loci at genome-wide significance, for transferrin at GTF3C5, and for hepcidin at CHCHD7/SDR16C5. Variants tagging the DUP4 haplotype, encoding the Dantu blood group (rs552439837) are associated with soluble transferrin receptor levels. Variants at GTF3C5 (rs2905094) and DUP4 confer protection against severe malaria and bacteremia. The CHCHD7/SDR16C5 variant (rs73596248) increases hepcidin levels and is associated with reduced risk of Klebsiella pneumoniae and Staphylococcus aureus bacteremia. Polygenic risk scores derived from European data show limited transferability to African populations. In this work, we demonstrate new genetic insights into iron regulation and highlight iron's role in host-pathogen interactions. - Source: PubMed
Publication date: 2026/04/07
Muriuki John MuthiiMentzer Alexander JBand GavinChong Amanda YMacharia Alex WMogire Reagan MAbuga Kelvin MokayaMitchell RuthGilchrist James JWebb Emily LNdungu Francis MRaffield Laura MEkunwe LynetteBentley Amy RSirima Sodiomon BMadhi Shabir AHill Adrian V SPrentice Andrew MBejon PhilipHemani GibranSmith George DaveySandhu Manjinder SElliott Alison MWilliams Thomas NAdeyemo AdebowaleAtkinson Sarah H - To identify genetic variants that influence myeloproliferative neoplasm (MPN) phenotypes, we undertook a 2-stage patient-only genome-wide association study. MPN subtypes (essential thrombocythemia [ET]; polycythemia vera [PV]) were compared with each other to healthy controls and stratified analyses was performed for chromosome 9p aberrations, JAK2 V617F mutation burden, and sex. The ET vs PV analysis identified known associations: (1) at HBS1L-MYB that increased ET risk (Pmeta = 7.93 × 10-6, odds ratio [OR] = 1.28) and reduced PV risk (Pmeta = 9.43 × 10-5, OR = 0.81) and (2) at GFI1B-GTF3C5 that predisposed to PV only (Pmeta = 1.43 × 10-9, OR = 1.38). Two further linked intronic variants, rs2425786 and rs2425788, at CDH22/CD40 were significant in females only (Pmeta = 2.67 × 10-8), with predisposition to PV (Pmeta = .0006, OR = 1.3) and reduction of ET risk (Pmeta = 7.82 × 10-5, OR = 0.75). A polygenic risk score consisting of 48 variants from 31 loci demonstrated moderate discriminative performance for ET and PV (area under the curve [AUC] = 0.718) and was improved by optimization for disease subtype (AUCET = 0.724 and AUCPV = 0.755). Overall, our results reveal that multiple germline variants influence MPN phenotype, with HBS1L-MYB and a novel sex-specific association with CDH22/CD40 being the strongest determinants. - Source: PubMed
Tapper William JDawoud Ahmed A ZScore JoannahChase Andrew JBaxter E JoannaEwing JoanneWallis LouiseGuglielmelli PaolaColomer DolorsBellosillo BeatrizGomez MontseHernández-Boluda Juan CarlosBesses CarlosCervantes FranciscoKoschmieder SteffenGreen Anthony RReiter AndreasVannucchi AlessandroHarrison ClaireCross Nicholas C P - Metabolic dysregulation in metabolic syndrome (MetS) exacerbates myocardial ischemia-reperfusion injury (MIRI). This study aimed to identify diagnostic biomarkers and therapeutic candidates for MetS-associated MIRI. - Source: PubMed
Publication date: 2025/05/29
Liu ShufangZhang YanZhao YananWu PingTian ShouyuanPang Han-QingWu ZhifangLi Sijin - General transcription factor IIIC subunit 5 (GTF3C5) encodes transcription factor IIIC63 (TFIIIC63). It binds to DNA to recruit another transcription factor, TFIIIB, and RNA polymerase III (Pol III) to mediate the transcription of small noncoding RNAs, such as tRNAs. Here, we report four individuals from three families presenting with a multisystem developmental disorder phenotype with biallelic variants in GTF3C5. The overlapping features include growth retardation, developmental delay, intellectual disability, dental anomalies, cerebellar malformations, delayed bone age, skeletal anomalies, and facial dysmorphism. Using lymphoblastoid cell lines (LCLs) from two affected individuals, we observed a reduction in TFIIIC63 protein levels compared to control LCLs. Genome binding of TFIIIC63 protein is also reduced in LCL from one of the affected individuals. Additionally, approximately 40% of Pol III binding regions exhibited reduction in the level of Pol III occupancy in the mutant genome relative to the control, while approximately 54% of target regions showed comparable levels of Pol III occupancy between the two, indicating partial impairment of Pol III occupancy in the mutant genome. Yeasts with subject-specific variants showed temperature sensitivity and impaired growth, supporting the notion that the identified variants have deleterious effects. gtf3c5 mutant zebrafish showed developmental defects, including a smaller body, head, and eyes. Taken together, our data show that GTF3C5 plays an important role in embryonic development, and that biallelic variants in this gene cause a multisystem developmental disorder. Our study adds GTF3C5-related disorder to the growing list of genetic disorders associated with Pol III transcription machinery. - Source: PubMed
Publication date: 2024/03/23
Iwata-Otsubo AikoSkraban Cara MYoshimura AtsunoriSakata ToyonoriAlves Cesar Augusto PFiordaliso Sarah KKuroda YukikoVengoechea JaimeGrochowsky AngelaErnste PaigeLulis LaurenNesbitt AddieTayoun Ahmad AbouGray ChristopherTowne Meghan CRadtke KellyNormand Elizabeth ARhodes LindsaySeiler ChristophShirahige KatsuhikoIzumi Kosuke - Long noncoding RNA (lncRNA)-mediated posttranscriptional and epigenetic landscapes of gene regulation are associated with numerous human diseases. However, the regulatory mechanisms governing human β-cell function and survival remain unknown. Owing to technical and ethical constraints, studying the direct role of lncRNAs in β-cell function and survival in humans is difficult. Therefore, we utilized humanized mice with human islets to investigate lncRNA expression using whole transcriptome shotgun sequencing. Our study aimed to characterize lncRNAs that may be crucial for human islet cell function and survival. - Source: PubMed
Publication date: 2023/11/01
Hossain Md MunirRoat ReganChristopherson JenicaFree ColetteAnsarullah James BrianGuo Zhiguang