Ask about this productRelated genes to: Antxr2 antibody
- Gene:
- ANTXR2 NIH gene
- Name:
- ANTXR cell adhesion molecule 2
- Previous symbol:
- -
- Synonyms:
- CMG2, CMG-2, FLJ31074
- Chromosome:
- 4q21.21
- Locus Type:
- gene with protein product
- Date approved:
- 2003-09-25
- Date modifiied:
- 2018-05-10
Related products to: Antxr2 antibody
Related articles to: Antxr2 antibody
- Infantile systemic hyalinosis is a rare autosomal recessive disorder characterized by the widespread deposition of hyaline material in multiple organs leading to progressive multisystem involvement. Early clinical manifestations are often nonspecific and frequently result in diagnostic delay. We report a seven-month-old female infant born of a third-degree consanguineous marriage who presented with persistent watery diarrhea since early infancy with failure to thrive. Clinical examination showed coarse facial features, hyperpigmentation over joints, perianal rash, and markedly reduced joint mobility with preserved deep tendon reflexes. Laboratory evaluation showed anemia, neutrophilic leukocytosis, elevated inflammatory markers, hypoalbuminemia, and reduced immunoglobulin levels, while stool studies were non-contributory. Upper gastrointestinal endoscopy demonstrated scattered white mucosal lesions suggestive of lymphatic dilation or hyaline deposition. After the exclusion of infectious, metabolic, and malabsorptive causes, a genetic etiology was suspected. Whole exome sequencing identified a homozygous pathogenic frameshift mutation in the ANTXR2 gene (c.1074del; p.Ala359fs), confirming the diagnosis of infantile systemic hyalinosis. This case highlights the importance of considering rare genetic disorders in infants presenting with chronic diarrhea accompanied by joint contractures and skin lesions and emphasizes the role of early genetic testing for definitive diagnosis, appropriate counseling, and optimized supportive care. - Source: PubMed
Publication date: 2026/02/12
Nayek SwastikaSandhu ArshpreetKumar AmberMalik Shikha - This study systematically measured gross hair weight and hair length traits across five body regions of 759 Tianzhu White Yak individuals. The BSL trait exhibited moderate heritability, while the BL trait demonstrated high heritability (h = 0.450). All other traits showed low heritability. GWASs were conducted using whole-genome resequencing data comprising 22,566,255 high-quality SNP loci. The MLM model identified 519 genome-wide significant loci and 767 chromosome-wide significant loci. Chromosome 6 harbored the highest number of significant SNP loci, while the remaining significant loci were distributed across multiple autosomes. Strong long-range linkage disequilibrium (r > 0.7) was observed between numerous significant SNPs on chromosome 6 associated with Gw and HL traits. A total of 73 candidate genes were annotated, including , , and . Functional enrichment analysis based on the GO and KEGG databases revealed significant enrichment in cytoplasm and the MAPK signaling pathway. Sanger sequencing results revealed that mutations in the , , , , and genes significantly affected the Gw, HL, and BSL traits of Tianzhu White Yak ( < 0.01). Linkage disequilibrium analysis indicated strong linkage disequilibrium (r > 0.6) among Sanger-sequenced SNP loci on the same chromosome. From a biological perspective, multiple candidate genes such as and are involved in hair follicle cycle regulation, cell proliferation, and metabolic control, suggesting its potential role in hair follicle development and hair shaft growth. This study identifies candidate loci and genes for gross hair weight and hair length traits in Tianzhu White Yak, contributing to elucidating the genetic mechanisms underlying hair production performance. - Source: PubMed
Publication date: 2026/02/10
Liu YichengQi XuedongLa YongfuMa XiaomingRen WenwenYang GuowuZhang ZhenyuChu MinWu XiaoyunGuo XianLi ShaobinQi WanzhenLiang Chunnian - Observational studies suggest that plasma proteins play a crucial role in the development and progression of obstructive sleep apnea (OSA); however, the causal relationship between plasma proteins and OSA remains controversial. This study conducted a comprehensive evaluation of the causal relationships between 4,907 plasma proteins and OSA by employing bidirectional Mendelian randomization (MR) analysis, network pharmacology strategies, and single-cell sequencing techniques. The plasma protein data used in this study were derived from Ferkingstad et al.'s research (n = 35,559), and OSA-related data were obtained from genome-wide association studies (GWAS) conducted on European populations through Finland's biobank (FinnGen). This study utilized multi-omics integration strategies, including enrichment analysis, protein-protein interaction (PPI) network construction, drug target prediction, molecular docking simulation, and single-cell transcriptome sequencing, to investigate the biological mechanisms of identified targets and evaluate their potential applications in drug development. MR analysis identified 62 plasma proteins significantly associated with OSA risk, including NTN4 (p = 0.003, OR = 1.076, CI [1.024, 1.129]) and TFF2 (p = 0.004, OR = 1.098, CI [1.029, 1.174]). Further reverse Mendelian analysis revealed causal relationships between OSA and the CELF2, NTRK3, ANTXR2, and MYOM2 genes. PPI network analysis identified 10 core genes, including IL1β, TGFβ1, EGF, SHH, and SMAD2, which participate in critical pathological processes in OSA, such as oxidative stress, inflammatory responses, and immune regulation. Through drug prediction analysis, this study identified compounds with potential therapeutic effectiveness, including 3,4-DHB, BIM IX, and 1,9-Pyrazoloanthrone, and molecular docking studies further confirmed their high binding affinity to target proteins. Single-cell sequencing revealed high expression levels of key genes in T cells and dendritic cells, thereby confirming the critical role of these cells in the pathological progression of OSA. A total of 62 candidate therapeutic targets for OSA were identified in this study, with 10 of these targets deemed important candidates for clinical trials. These findings not only enrich the understanding of the molecular pathological mechanisms underlying OSA but also offer new perspectives for developing targeted therapeutic strategies to treat the condition. By facilitating the establishment of more precise and personalized disease management approaches, these results are expected to advance the development of therapeutic drugs for OSA and substantially reduce the economic costs associated with new drug development. - Source: PubMed
Publication date: 2026/02/19
Duan LingzhiWang YanJing HaiqingWang YanqiongNing ShuyeYang ZhengfuZhang Aihua - Hemolysin β-pore-forming toxins (βPFTs) are key virulence factors of Clostridium perfringens, associated with severe diseases in humans and animals. Yet, the mechanisms by which Clostridium βPFTs recognize and engage specific target cells remain poorly understood. Here, we identify the cellular receptor for C. perfringens necrotizing enteritis toxin F (NetF), a recently discovered toxin implicated in severe enteritis in dogs and foals. We show that NetF binds to the same receptor as anthrax toxin, namely ANTXR2. Using cryo-electron microscopy, we determined the structure of the oligomeric NetF pre-pore as well as the transmembrane pore, both alone and in complex with the extracellular domain of ANTXR2. Unlike anthrax toxin, which binds to the apical MIDAS motif of ANTXR2 - as does the natural ANTXR2 ligand collagen type VI - NetF engages the receptor laterally, spanning both the von Willebrand A and the Ig-like domains. This interaction positions the toxin near the membrane, facilitating contact with membrane lipids and promoting transmembrane pore formation. Our findings uncover key principles of hemolysin βPFT-receptor recognition and advance our understanding of how pathogenic bacteria use these toxins to breach host defenses. - Source: PubMed
Publication date: 2026/02/14
Wang ChangCattalani FilippoIacovache IoanNaguleswaran ArunasalamFarhoosh FaezehFranzen JanAbrami Laurencevan der Goot F GisouPosthaus HorstZuber Benoît
- Source: PubMed