B9D2
- Known as:
- B9D2
- Catalog number:
- 002376A
- Product Quantity:
- 250ul
- Category:
- -
- Supplier:
- ABM
- Gene target:
- B9D2
Related genes to: B9D2
- Gene:
- B9D2 NIH gene
- Name:
- B9 domain containing 2
- Previous symbol:
- -
- Synonyms:
- MGC4093, MKS10, MKSR-2
- Chromosome:
- 19q13.2
- Locus Type:
- gene with protein product
- Date approved:
- 2007-08-21
- Date modifiied:
- 2019-04-16
Related products to: B9D2
Related articles to: B9D2
- Migraine is a highly prevalent, heritable neurological disorder with a marked female predominance, indicating substantial hormonal contributions to disease pathophysiology. Endocrine-disrupting chemicals (EDCs) are ubiquitous environmental contaminants that interfere with hormonal signaling and have been linked to multiple diseases, yet their molecular contribution to migraine remains unclear. This study aims to identify EDC-related genes contributing to migraine risk and explore underlying mechanisms using an integrative multi-omics and causal inference framework. - Source: PubMed
Publication date: 2026/06/08
Ren YinfanXu ZiqiXu ZifeiZhang GuifangHuang HuanjieWang ChuhuaiHu Xiao-Qian - Joubert syndrome (JS) is a rare ciliopathy characterized by cerebellar and brainstem malformations and the molar tooth sign on magnetic resonance imaging. Motor impairment is primarily driven by axial hypotonia, impaired postural control, and disrupted respiratory-postural integration. Longitudinal reports describing structured neurorehabilitation with standardized functional outcomes remain limited. - Source: PubMed
Publication date: 2026/03/26
Mański ŁukaszMoluszys AleksandraWasilewska ElizaRosa AgnieszkaSzczałuba KrzysztofSzumlicki JanSzymańska KrystynaWierzba Jolanta
- Source: PubMed
- Ciliary dysfunction results in multiorgan developmental diseases, collectively known as ciliopathies. The B9D1-B9D2-MKS1protein complex maintains the gatekeeper function at the ciliary transition zone (TZ). However, the function of B9 proteins and the mechanisms underlying why different variants in the same B9 gene cause different ciliopathies are not fully understood. Here, we investigated the function of B9 proteins and revealed 2 critical functions. First, the B9 complex interacted with and anchored TMEM67 to the TZ membrane. Disruption of the B9-TMEM67 complex reduced posttranslational modifications of axonemal microtubules due to deregulation of tubulin-modifying enzymes within cilia. Second, B9 proteins localized to centrioles prior to ciliogenesis, where they facilitated the initiation of ciliogenesis. In addition, we identified B9D2 variants in a cohort of patients with Joubert syndrome. We found that Joubert syndrome-associated B9D2 variants primarily affected axonemal microtubule modifications without disrupting ciliogenesis, whereas the Meckel syndrome-associated B9D2 variant disrupted both ciliogenesis and axonemal microtubule modifications. Thus, besides its role as a gatekeeper for ciliary membrane proteins, the B9 complex also controls axonemal microtubule posttranslational modifications and early stages of ciliogenesis, providing insights into the distinct pathologies arising from different variants of the same gene. - Source: PubMed
Publication date: 2025/10/30
He RuidaLi YanJin MinjunJiao HuikeShen YueHan QizePan XilangWang SuningLin ZaishengLi JingshiLu ChaoMeng DanCao ZongfuShang QingLv NanWan KaiGao HuafangMa XuYin HaiyanChang HaishuangWang LiangLuo MinnaPan JunminZhao ChengtianCao Muqing - BACKGROUND: Colorectal cancer (CRC) is a malignant tumor marked by high prevalence and a challenging early detection landscape. While tools such as colonoscopy and serum biomarkers enhance screening efficacy, their invasive nature and inadequate sensitivity and specificity hamper their broad adoption. There is a pressing need for non-invasive, precise biomarkers for early diagnosis. The B9D2 gene, which is essential for ciliary function, has been rarely explored in CRC. This study is the first to investigate the diagnostic potential of B9D2 in CRC, using bioinformatics and machine learning to uncover its novel role in early detection, with implications for clinical translation. METHODS: Gene expression data from whole blood samples obtained from the GEO database were analyzed to identify differentially expressed genes (DEGs) associated with CRC, using a adjusted p-value threshold of < 0.05 and an absolute logFC > 0.5. The biological functions of these genes were investigated through Gene Ontology (GO), Kyoto Encyclopedia of Genes and Genomes (KEGG), the Human Protein Atlas (HPA), and Gene Set Enrichment Analysis (GSEA). Additionally, three machine learning methods—Random Forest (RF), LASSO regression, and Support Vector Machine Recursive Feature Elimination (SVM-RFE)—were employed for feature selection and to evaluate the robustness and predictive power of the selected features, with diagnostic efficacy evaluated through Receiver Operating Characteristic (ROC) curves. RESULTS: Through this analysis, we identified five key genes—B9D2, CR2, DNMT3B, FOS, and PTGS2—from the GSE203024 dataset. Four of these genes have been previously linked to CRC, typically in tissue samples. Our study strengthens their significance as biomarkers by showing their expression in peripheral blood, a non-invasive source, and using multiple analytical methods. Notably, no previous studies have connected B9D2 to CRC, making this discovery a novel contribution. B9D2 expression was significantly upregulated in CRC patients, with an AUC of 0.797 in ROC analysis. This finding was further validated in the GSE47756 dataset, with an AUC of 0.756, confirming its potential as a reliable diagnostic biomarker for CRC. Further IHC staining showed significant different expression of B9D2 between normal and CRC tissue. CONCLUSION: This study highlights the diagnostic potential of the B9D2 gene in CRC, marking the first time it has been proposed as a biomarker for early detection in CRC. This provides a foundation for its potential application in non-invasive diagnostic methods, such as liquid biopsy. Further experimental and clinical studies are needed to validate B9D2 as a reliable biomarker for early CRC detection and screening. - Source: PubMed
Publication date: 2025/08/14
Wang ZhaoruiFu YongchengZhang HaozheLiu NaLei Ningjing