Ask about this productRelated genes to: RFTN2 Blocking Peptide
- Gene:
- RFTN2 NIH gene
- Name:
- raftlin family member 2
- Previous symbol:
- C2orf11
- Synonyms:
- FLJ30574, Raftlin-2
- Chromosome:
- 2q33.1
- Locus Type:
- gene with protein product
- Date approved:
- 2003-12-19
- Date modifiied:
- 2014-11-19
Related products to: RFTN2 Blocking Peptide
Related articles to: RFTN2 Blocking Peptide
- The glymphatic system plays a key role in brain waste clearance, but its genetic regulation remains poorly understood. Diffusion Tensor Image Analysis along the Perivascular Space (DTI-ALPS) index is a non-invasive imaging biomarker to asses glymphatic system activity. We integrated mean DTI-ALPS genome-wide association study (GWAS) data from 31,021 individuals of European ancestry with GTEx v8 multi-tissue eQTL data to perform transcriptome-wide association studies (TWAS) using Unified Test for Molecular Signature (UTMOST) and Functional Summary-based Imputation (FUSION). Gene-level associations were further validated by Multi-marker Analysis of Genomic Annotation (MAGMA). Causal inference was conducted using cis-Mendelian randomization (cis-MR) and summary-data-based Mendelian randomization (SMR), while colocalization was applied to provide evidence of strong associations between two traits within a single genetic region, thereby ensuring the stability of the MR conclusions. TWAS identified 17 candidate genes (AGBL5-IT1, CENPA, CGREF1, DNAJC5G, EMILIN1, GCAT, KHK, MAPRE3, OTOF, PLCL1, PREB, RBM43, RFTN2, SERPIND1, SNAP29, TRIOBP, and UCN), among which six protein-coding genes (TRIOBP, MAPRE3, EMILIN1, KHK, GCAT, and CGREF1) were further validated by MAGMA. Cis-MR provided evidence for the causal effects of these six genes, while colocalization supported that the MR conclusions were stable for four of them (TRIOBP, MAPRE3, EMILIN1, and GCAT). Finally, SMR identified three genes (TRIOBP, GCAT, and MAPRE3) that showed consistent and robust associations with DTI-ALPS across multiple tissues. These findings provide statistical evidence for genetic regulation of glymphatic function. - Source: PubMed
Publication date: 2025/12/05
Zhu XiaoyangWang ShengjieZhang ShuaiqiLiu ZhiyuanWang NaWang ShuYang Nixia - The heterogeneity of pre-eclampsia (PE) complicates its pathogenesis, which remains incompletely understood. Emerging evidence indicates a significant role of metabolism in the pathophysiology of PE. We procured the PE dataset from the Gene Expression Omnibus database and sourced a published compilation of metabolism-related genes, then employed consensus clustering to classify PE subtypes. Subsequently, we examined the relationships of these subtypes with metabolic features and immune infiltration. Feature genes were identified using weighted gene co-expression network analysis (WGCNA) and further scrutinized through Gene Ontology and Kyoto Encyclopedia of Genes and Genomes pathway enrichment analyses. To refine the selection of feature genes, we applied two machine learning algorithms. Additionally, we assessed the expression profiles of RAG1, RBBP7, RFTN2, SPATA7, and ZNF16 at the single-cell RNA sequencing (scRNA-seq) level. Finally, we validated the diagnostic value and expression of these genes using PE datasets and quantitative reverse transcription-PCR (qRT-PCR) analysis. We identified three PE subtypes on the basis of the number of distinct metabolic characteristics, namely Metabolism Correlated (MC) A (MCA), MCB, and MCC subclasses. Through WGCNA, we pinpointed 101 metabolic genes that were strongly associated with PE progression. Machine learning algorithms helped to narrow the list to five key signature genes, which were then used to construct a predictive model offering significant clinical benefits for PE patients. qRT-PCR analysis confirmed that these genes are closely linked to PE progression, while scRNA-seq data revealed high expression of RBBP7 in trophoblast cells. In conclusion, the five genes identified here-RAG1, RBBP7, RFTN2, SPATA7, and ZNF16-were found to be strongly associated with PE progression. - Source: PubMed
Publication date: 2025/02/10
Xiong ZhihuiGuan HailianPei ShupingWang Caijiao - The incidence of brain metastases (BrM) in patients with metastatic melanoma is reported to be 30-50% and constitutes the third most frequent BrM after breast and renal cancers. Treatment strategies including surgical resection, stereotactic radiation, and immunotherapy have improved clinical response rates and overall survival, but the changes that occur in circulating melanoma cells to promote invasion of the brain are not fully understood. To investigate brain tropism, we generated new variants of the B16 mouse melanoma model by serially passaging B16 cells through the brain of immune competent syngeneic C57BL/6 mice. Cells were injected into the right carotid artery and recovered from the brain after the mice had reached the study endpoint due to tumor burden, then expanded in vitro and reinjected. We compared the transcriptomes of 4th generation B16 cell populations from separate lineages with the founder B16-F0 cells. Gene set enrichment analysis (GSEA) of differentially expressed protein coding genes revealed that cells isolated from the brain as well as from the lung and meninges expressed higher levels of genes associated with an epithelial to mesenchymal transition (EMT), upregulation of the KRAS signaling pathway, and a metastasis aggressiveness gene signature associated with poor survival in melanoma patients. Principal component analysis of differentially expressed genes showed that 4th generation melanoma cells isolated from the brain, lung and meninges from one lineage were distinct from those of the other three lineages. Among the differentially expressed genes, transcript levels of several genes, including Itgb2, Rftn2, and Kcnn4, were significantly higher in all cell populations that comprised this lineage compared with all cell populations from the other three lineages. In conclusion, we have derived an aggressive, highly brain metastatic B16 variant associated with leptomeningeal disease by serially passaging cells in vivo. - Source: PubMed
Publication date: 2025/01/16
Kienzler Jenny CContreras Erick MTreger JanetLiau Linda MOwens Geoffrey CPrins Robert M - Non-Alcoholic fatty liver disease (NAFLD) is the leading cause of chronic liver disease in children. Epigenetic alterations, such as through DNA methylation (DNAm), may link adverse childhood exposures and fatty liver and provide non-invasive methods for identifying children at high risk for NAFLD and associated metabolic dysfunction. We investigated the association between differential DNAm and liver fat content (LFC) and liver injury in pre-adolescent children. Leveraging data from the Newborn Epigenetics Study (NEST), we enrolled 90 mother-child dyads and used linear regression to identify CpG sites and differentially methylated regions (DMRs) in peripheral blood associated with LFC and alanine aminotransferase (ALT) levels in 7-12yo children. DNAm was measured using Infinium HumanMethylationEPIC BeadChips (Illumina). LFC and fibrosis were quantified by magnetic resonance imaging proton density fat fraction and elastography. Median LFC was 1.4% (range, 0.3-13.4%) and MRE was 2.5 kPa (range, 1.5-3.6kPa). Three children had LFC ≥ 5%, while six (7.6%) met our definition of NAFLD (LFC ≥ 3.7%). All children with NAFLD were obese and five were Black. LFC was associated with 88 DMRs and 106 CpGs (FDR<5%). The top two CpGs, cg25474373 and cg07264203, mapped to or near and genes. These two CpG sites were also significantly associated with a NAFLD diagnosis. As higher LFC associates with an adverse cardiometabolic profile already in childhood, altered DNAm may identify these children early in disease course for targeted intervention. Larger, longitudinal studies are needed to validate these findings and determine mechanistic relevance. - Source: PubMed
Publication date: 2022/02/21
Moylan Cynthia AMavis Alisha MJima DerejeMaguire RachelBashir MustafaHyun JeongeunCabezas Melanie NParish AliceNiedzwiecki DonnaDiehl Anna MaeMurphy Susan KAbdelmalek Manal FHoyo Cathrine - Bone mineral density (BMD) and whole-body lean mass (WBLM) are two important phenotypes of osteoporosis and sarcopenia. Previous studies have shown that BMD and lean mass were phenotypically and genetically correlated. To identify the novel common genetic factors shared between BMD and WBLM, we performed the conditional false discovery rate (cFDR) analysis using summary data of the genome-wide association study of femoral neck BMD (n = 53,236) and WBLM (n = 38,292) from the Genetic Factors for Osteoporosis Consortium (GEFOS). We identified eight pleiotropic Single Nucleotide Polymorphism (SNPs) (PLCL1 rs11684176 and rs2880389, JAZF1 rs198, ADAMTSL3 rs10906982, RFTN2/MARS2 rs7340470, SH3GL3 rs1896797, ST7L rs10776755, ANKRD44/SF3B1 rs11888760) significantly associated with femoral neck BMD and WBLM (ccFDR < 0.05). Bayesian fine-mapping analysis showed that rs11888760, rs198, and rs1896797 were the possible functional variants in the ANKRD44/SF3B1, JAZF1i, and SH3GL3 loci, respectively. Functional annotation suggested that rs11888760 was likely to comprise a DNA regulatory element and linked to the expression of RFTN2 and PLCL1. PLCL1 showed differential expression in laryngeal posterior cricoarytenoid muscle between rats of 6 months and 30 months of age. Our findings, together with PLCL1's potential functional relevance to bone and skeletal muscle function, suggested that rs11888760 was the possible pleiotropic functional variants appearing to coregulate both bone and muscle metabolism through regulating the expression of PLCL1. The findings enhanced our knowledge of genetic associations between BMD and lean mass and provide a rationale for subsequent functional studies of the implicated genes in the pathophysiology of diseases, such as osteoporosis and sarcopenia. - Source: PubMed
Publication date: 2021/06/11
Tan Li-JunLi Xiao-HuaLi Gai-GaiHu YuanChen Xiang-DingDeng Hong-Wen