Ask about this productRelated genes to: GTPBP2 antibody
- Gene:
- GTPBP2 NIH gene
- Name:
- GTP binding protein 2
- Previous symbol:
- -
- Synonyms:
- -
- Chromosome:
- 6p21.1
- Locus Type:
- gene with protein product
- Date approved:
- 2000-07-31
- Date modifiied:
- 2016-10-05
Related products to: GTPBP2 antibody
Related articles to: GTPBP2 antibody
- Breast cancer (BC) remains the leading cause of cancer-related mortality among women worldwide, with triple-negative breast cancer (TNBC) exhibiting the poorest prognosis. GTPBP2, a member of the G protein superfamily, has primarily been studied in the context of human genetics, with no reported research on its role in BC. This study aims to explore the effects of GTPBP2 on proliferation, migration, and invasion in TNBC, as well as to elucidate its underlying mechanisms. In this study, GTPBP2 expression was analyzed using multiple breast cancer-related databases. Western blotting was employed to validate the protein expression of GTPBP2 and its potential mechanisms in human breast cancer. Additionally, lentiviral infection was used to alter GTPBP2 expression in TNBC cells, and the effects on cancer cell proliferation, migration, and invasion were assessed in vitro using CCK-8 assays, colony formation assays, wound-healing assays, and Transwell invasion analyses. To further evaluate the role of GTPBP2 in vivo, xenograft tumors were established in female B-NDG mice to study tumor occurrence and progression. GTPBP2 is significantly upregulated in TNBC tissues and plays a critical role in promoting the malignant progression of breast cancer by positively regulating key pathways associated with tumor growth and metastasis. - Source: PubMed
Publication date: 2026/02/28
Zhao XianLi WenjingHan QinyuXu XingchaoRen ChuanxinLiu WenfengLi Xiangqi - Despite recent advancements in targeted therapies for hepatocellular carcinoma (HCC), therapeutic resistance continues to limit their clinical efficacy, highlighting an urgent need to identify novel molecular targets involved in disease progression and drug resistance. - Source: PubMed
Publication date: 2026/02/03
Huang Po-ShuanChi Hsiang-ChengLin Yang-HsiangHuang Wei-ChiehLiao Wan-TingWang Pei-YunWang Ling-YuWang Yi-WenLin Tzu-KangLiao Chia-JungChang Che-JuLay Ing-ShiowYeh Chau-TingWang Lu-HaiLin Kwang-Huei - This study aims to identify and validate a transcriptomic signature capable of predicting the response to tumour necrosis factor inhibitors (TNFi) therapy in patients with rheumatoid arthritis (RA) before treatment initiation. - Source: PubMed
Publication date: 2025/09/03
Santiago-Lamelas LuciaCastro-Santos PatriciadeAndrés-Galiana Enrique JFernández-Martínez Juan LuisEscudero-Contreras AlejandroPérez-Sanchez CarlosSánchez-Pareja IsmaelLópez-Pedrera CharyJelinsky Scott ANikitsina MaryiaGonzalez-Alvaro IsidoroSobrín Raquel Dos SantosMera AntonioDurán JosefinaDíaz-Peña Roberto - Progressive retinal atrophy (PRA), caused by aberrant functioning of rod/cone photoreceptors, leads to blindness affecting mammals, including dogs. We identified a litter of three Labrador retrievers affected by non-syndromic PRA; the parents and three other siblings were unaffected. Homozygosity mapping and whole-genome sequencing detected a homozygous 3-bp deletion in the coding region of GTPBP2, located in CFA12 (NC_049233.1:12,264,348_12,264,350del, c.1606_1608del, p.Ala536del). The variant was absent from the online European Variation Archive (EVA) database, the Dog Biomedical Variants Database Consortium, and the Dog10k database. We tested 91 non-affected dogs from the same kennel and found 75 wild-type (WT) and 16 carriers, all clinically normal, and 569 Labradors from the general population (USA), all WT. GTPBP2 is associated with Jaberi-Elahi syndrome (JES) in Homo sapiens, and splice variants in Mus musculus are associated with neurodegeneration; in both cases photoreceptor degeneration may be included in its manifestation. Heterologous cellular systems were transfected with cDNA encoding WT or A536del mutant GTPBP2 protein and immunoblot analysis of total cell lysate with anti-GTPBP2 antibodies showed that the expression level of the GTPBP2 mutant protein A536del is slightly but not significantly reduced compared to WT. Immunofluorescent methods and confocal analysis of cells transfected with WT or A536del GTPBP2 protein revealed that the WT form is diffuse throughout the cytosol, while the mutant form resulted in the formation of cytoplasmic aggregates in ~70-80% of cells. The deleted amino acid falls within a conserved interval outside the GTP domain of GTPBP2, suggesting a potentially novel role of the sequence on cellular localization of the protein. - Source: PubMed
Publication date: 2025/02/19
Murgiano LeonardoNiggel Jessica KAkyürek Eylem EmekSacchetto RobertaAguirre Gustavo D - Mutations in the following genes: PANK2, PLA2G6, C19orf12, WDR45, CP, FA2H, ATP13A2, FTL, DCAF17, and CoASY are associated with the development of different subtypes of inherited rare disease Neurodegeneration with Brain Iron Accumulation (NBIA). Additionally, recently described mutations in FTH1, AP4M1, REPS1, SCP2, CRAT and GTPBP2 affecting iron and lipid metabolism also are thought to be involved in NBIA development. Four main subtypes, pantothenate kinase-associated neurodegeneration (PKAN), PLA2G6-associated neurodegeneration (PLAN), mitochondrial membrane protein-associated neurodegeneration (MPAN) and beta-propeller protein-associated neurodegeneration (BPAN), are responsible for up to 82 % of all NBIA cases. Here we studied fibroblasts from 11 patients with pathogenic mutations in C19orf12, and demonstrate various cellular aberrations. Differences between fibroblasts from healthy individuals and MPAN patients were potentiated when cells were grown under oxidative phosphorylation (OXPHOS) promoting condition suggesting an impaired metabolic flexibility. The extent of some of the cellular aberrations quantitatively correlated with disease severity, suggesting their involvement in the NBIA pathomechanism. - Source: PubMed
Publication date: 2024/10/15
Wydrych AgataPakuła BarbaraJakubek-Olszewska PatrycjaJanikiewicz JustynaDobosz Aneta MCudna AgnieszkaRydzewski MarcelPierzynowska KarolinaGaffke LidiaCyske ZuzannaRintz EsteraKurkowska-Jastrzębska IwonaCwyl MaciejPinton PaoloWęgrzyn GrzegorzKoopman Werner J HDobrzyń AgnieszkaSkowrońska MartaLebiedzińska-Arciszewska MagdalenaWieckowski Mariusz R