Ask about this productRelated genes to: Pi4k2b antibody
- Gene:
- PI4K2B NIH gene
- Name:
- phosphatidylinositol 4-kinase type 2 beta
- Previous symbol:
- -
- Synonyms:
- PI4KIIB, FLJ11105, PIK42B
- Chromosome:
- 4p15.2
- Locus Type:
- gene with protein product
- Date approved:
- 2005-08-31
- Date modifiied:
- 2016-10-05
Related products to: Pi4k2b antibody
Related articles to: Pi4k2b antibody
- Excessive daytime sleepiness (EDS), influenced by environmental and social-behavioral factors, is reported by a subset of patients with sleep apnea-a group that may be at elevated cardiovascular risk. However, it is unclear whether sleep apnea with and without EDS have distinct genetic underpinnings. In this study, we perform gene-by-EDS interaction analyses for apnea hypopnea index, a diagnostic marker of sleep apnea severity, to understand EDS's influence on its underlying genetic risk. - Source: PubMed
Nagarajan PavithraKurniansyah NuzululLee JiwonGharib Sina AXu YushanZhang YiyanSpitzer BrianFaquih TariqZhou HufengBoerwinkle EricChen HanGottlieb Daniel JGuo XiuqingHeard-Costa Nancy LHidalgo Bertha ALevy DanielLiu Peter YMei HaoMontalvan RebeccaMukherjee SutapaNorth Kari EO'Connor George TPalmer Lyle JPatel Sanjay RPsaty Bruce MPurcell Shaun MRaffield Laura MRich Stephen SRotter Jerome ISaxena RichaSmith Albert VStone Katie LZhu Xiaofeng Cade Brian ESofer TamarRedline SusanWang Heming - The location of a patient's colorectal cancer (CRC) influences their outcome but inherited factors may also be involved. We studied 1899 patients with advanced CRC (514 had proximal colonic, 493 distal colonic and 892 rectal tumours) and carried out genome-wide association studies for survival. Single nucleotide polymorphisms (SNPs) suggestive of association (P < 1.0 × 10) were tested for replication in 5078 CRC patients from the UK Biobank. We investigated the relationship between Phosphatidylinositol 4-Kinase Type 2 Beta (PI4K2B) expression in colorectal tumours and survival in 597 patients from The Human Protein Atlas (THPA). We also analysed 3 SNPs previously associated with survival by anatomical site. We found that SNPs at 54 independent loci were suggestive of an association with survival when stratified by tumour location. rs76011559 replicated in patients with proximal tumours (COIN, COIN-B and UK Biobank combined Hazard Ratio [HR] = 1.53, 95% Confidence Intervals [CI] = 1.19-1.86, P = 7.5 × 10) and rs12273047 replicated in patients with rectal tumours (combined HR = 1.27, 95% CI = 1.09-1.46, P = 4.1 × 10). In gene analyses, PI4K2B associated with survival in patients with distal cancers (P = 2.1 × 10) and increased PI4K2B expression in colorectal tumours was associated with improved survival (P = 9.6 × 10). No previously associated SNPs were replicated. Our data identify novel loci associated with survival when stratified by tumour location. - Source: PubMed
Publication date: 2025/01/18
Wills ChristopherWatts KatieHouseman AmyMaughan Timothy SFisher DavidAl-Tassan Nada AHoulston Richard SEscott-Price ValentinaCheadle Jeremy P - Obstructive sleep apnea (OSA) is a multifactorial sleep disorder characterized by a strong genetic basis. Excessive daytime sleepiness (EDS) is a symptom that is reported by a subset of OSA patients, persisting even after treatment with continuous positive airway pressure (CPAP). It is recognized as a clinical subtype underlying OSA carrying alarming heightened cardiovascular risk. Thus, conceptualizing EDS as an exposure variable, we sought to investigate EDS's influence on genetic variation linked to apnea-hypopnea index (AHI), a diagnostic measure of OSA severity. This study serves as the first large-scale genome-wide gene x environment interaction analysis for AHI, investigating the interplay between its genetic markers and EDS across and within specific sex. Our work pools together whole genome sequencing data from seven cohorts, enabling a diverse dataset (four population backgrounds) of over 11,500 samples. Among the total 16 discovered genetic targets with interaction evidence with EDS, eight are previously unreported for OSA, including , , and identified in all sexes; , , and identified in males; and and identified in females. We discuss connections to insulin resistance, thiamine deficiency, and resveratrol use that may be worthy of therapeutic consideration for excessively sleepy OSA patients. - Source: PubMed
Publication date: 2024/10/28
Nagarajan PavithraKurniansyah NuzululLee JiwonGharib Sina AXu YushanZhang YiyanSpitzer BrianFaquih TariqZhou HufengBoerwinkle EricChen HanGottlieb Daniel JGuo XiuqingHeard-Costa Nancy LHidalgo Bertha ALevy DanielLiu Peter YMei HaoMontalvan RebeccaMukherjee SutapaNorth Kari EO'Conner George TPalmer Lyle JPatel Sanjay RPsaty Bruce MPurcell Shaun MRaffield Laura MRich Stephen SRotter Jerome ISaxena RichaSmith Albert VStone Katie LZhu Xiaofeng Cade Brian ESofer TamarRedline SusanWang Heming - GABARAP is a member of the ATG8 family of ubiquitin-like autophagy related proteins. It was initially discovered as a facilitator of GABA-A receptor translocation to the plasma membrane and has since been shown to promote the intracellular transport of a variety of other proteins under non-autophagic conditions. We and others have shown that GABARAP interacts with the Type II phosphatidylinositol 4-kinase, PI4K2A, and that this interaction is important for autophagosome-lysosome fusion. Here, we identify a 7-amino acid segment within the PI4K2A catalytic domain that contains the GABARAP interaction motif (GIM). This segment resides in an exposed loop that is not conserved in the other mammalian Type II PI 4-kinase, PI4K2B, explaining the specificity of GABARAP binding to the PI4K2A isoform. Mutation of the PI4K2A GIM inhibits GABARAP binding and PI4K2A-mediated recruitment of cytosolic GABARAP to subcellular organelles. We further show that GABARAP binds to mono-phosphorylated phosphoinositides, PI3P, PI4P, and PI5P, raising the possibility that these lipids contribute to the binding energies that drive GABARAP-protein interactions on membranes. - Source: PubMed
Chen YanBarylko BarbaraEichorst John PMueller Joachim DAlbanesi Joseph P - Vascular aging exacerbates diabetes-associated vascular damage, a major cause of microvascular and macrovascular complications. This study aimed to elucidate key genes and pathways underlying vascular aging in diabetes using integrated bioinformatics and machine learning approaches. Gene expression datasets related to vascular smooth muscle cell (VSMC) senescence and diabetic vascular aging were analyzed. Differential expression analysis identified 428 genes associated with VSMC senescence. Functional enrichment revealed their involvement in cellular senescence, ECM-receptor interaction, PI3K-Akt and AGE-RAGE signaling pathways. Further analysis of diabetic vascular aging datasets revealed 52 differentially expressed genes, enriched in AMPK signaling, AGE-RAGE signaling, cellular senescence, and VEGF signaling pathways. Machine learning algorithms, including LASSO regression and SVM-RFE, pinpointed six key genes: TFB1M, FOXRED2, LY75, DALRD3, PI4K2B, and NDOR1. Immune cell infiltration analysis demonstrated correlations between diabetic vascular aging, the identified key genes, and infiltration levels of plasma cells, M1 macrophages, CD8+ T cells, eosinophils, and regulatory T cells. In conclusion, this study identified six pivotal genes (TFB1M, FOXRED2, LY75, DALRD3, PI4K2B, and NDOR1) closely associated with diabetic vascular aging through integrative bioinformatics and machine learning approaches. These genes are linked to alterations in the immune microenvironment during diabetic vascular aging. This study provides a reference and basis for molecular mechanism research, biomarker mining, and diagnosis and treatment evaluation of diabetes-related vascular aging. - Source: PubMed
Publication date: 2024/05/27
Wang ShaWang XiaChen JingWang MinZhang Chi