Ask about this productRelated genes to: CAPNS2 Blocking Peptide
- Gene:
- CAPNS2 NIH gene
- Name:
- calpain small subunit 2
- Previous symbol:
- -
- Synonyms:
- MGC12536, MGC14804
- Chromosome:
- 16q12.2
- Locus Type:
- gene with protein product
- Date approved:
- 2004-07-19
- Date modifiied:
- 2016-02-10
Related products to: CAPNS2 Blocking Peptide
Related articles to: CAPNS2 Blocking Peptide
- Type 2 diabetes mellitus (T2DM) and Alzheimer's disease (AD) a growing concern in low- and middle-income countries, including Pakistan. The relationship between T2DM and AD is complex and concerning, as more older adults with T2DM are experiencing cognitive impairment. - Source: PubMed
Publication date: 2026/03/31
Noreen ZarishMondal TanmoyJohnson JheannelleSahota JasneetLoffredo Christopher ANunlee-Bland GailKorba BrentBhatti AttyaChandra VijayGhosh Somiranjan - Existing genetic studies of neuroticism have been largely limited to common variants. Here we performed a large-scale exome analysis of white British individuals from UK Biobank, revealing the role of coding variants in neuroticism. For rare variants, collapsing analysis uncovered 14 neuroticism-associated genes. Among these, 12 (PTPRE, BCL10, TRIM32, ANKRD12, ADGRB2, MON2, HIF1A, ITGB2, STK39, CAPNS2, OGFOD1 and KDM4B) were novel, and the remaining (MADD and TRPC4AP) showed convergent evidence with common variants. Heritability of rare coding variants was estimated to be up to 7.3% for neuroticism. For common variants, we identified 78 significant associations, implicating 6 unreported genes. We subsequently replicated these variants using meta-analysis across other four ancestries from UK Biobank and summary data from 23andMe sample. Furthermore, these variants had widespread impacts on neuropsychiatric disorders, cognitive abilities and brain structure. Our findings deepen the understanding of neuroticism's genetic architecture and provide potential targets for future mechanistic research. - Source: PubMed
Publication date: 2024/11/07
Wu Xin-RuiLi Ze-YuYang LiuLiu YingFei Chen-JieDeng Yue-TingLiu Wei-ShiWu Bang-ShengDong QiangFeng Jian-FengCheng WeiYu Jin-Tai - The long noncoding RNA CDKN2B-AS1 harbors a major coronary artery disease risk haplotype, which is also associated with progressive forms of the oral inflammatory disease periodontitis as well as myocardial infarction (MI). Despite extensive research, there is currently no broad consensus on the function of CDKN2B-AS1 that would explain a common molecular role of this lncRNA in these diseases. Our aim was to investigate the role of CDKN2B-AS1 in gingival cells to better understand the molecular mechanisms underlying the increased risk of progressive periodontitis. We downregulated CDKN2B-AS1 transcript levels in primary gingival fibroblasts with LNA GapmeRs. Following RNA-sequencing, we performed differential expression, gene set enrichment analyses and Western Blotting. Putative causal alleles were searched by analyzing associated DNA sequence variants for changes of predicted transcription factor binding sites. We functionally characterized putative functional alleles using luciferase-reporter and antibody electrophoretic mobility shift assays in gingival fibroblasts and HeLa cells. Of all gene sets analysed, collagen biosynthesis was most significantly upregulated (Pj=9.7 × 10 (AUC > 0.65) with the CAD and MI risk gene COL4A1 showing strongest upregulation of the enriched gene sets (Fold change = 12.13, P = 4.9 × 10). The inflammatory "TNFA signaling via NFKB" gene set was downregulated the most (P=1 × 10 (AUC = 0.60). On the single gene level, CAPNS2, involved in extracellular matrix organization, was the top upregulated protein coding gene (Fold change = 48.5, P < 9 × 10). The risk variant rs10757278 altered a binding site of the pathogen responsive transcription factor STAT1 (P = 5.8 × 10). rs10757278-G allele reduced STAT1 binding 14.4% and rs10757278-A decreased luciferase activity in gingival fibroblasts 41.2% (P = 0.0056), corresponding with GTEx data. CDKN2B-AS1 represses collagen gene expression in gingival fibroblasts. Dysregulated collagen biosynthesis through allele-specific CDKN2B-AS1 expression in response to inflammatory factors may affect collagen synthesis, and in consequence tissue barrier and atherosclerotic plaque stability. - Source: PubMed
Publication date: 2024/06/04
Shi WeiweiSong JiahuiWeiner January MikolajChopra AvneeshDommisch HenrikBeule DieterSchaefer Arne S - Alzheimer's disease (AD) is a multifactorial neurodegenerative disorder that is most prevalent in elderly individuals, especially in developed countries, and its prevalence is now increasing in developing countries like Pakistan. - Source: PubMed
Publication date: 2024/03/19
Mondal TanmoyNoreen ZarishLoffredo Christopher AJohnson JheannelleBhatti AttyaNunlee-Bland GailQuartey RuthHowell Charles DMoses GemeyelNnanabu ThomasCotin Sharleine TClark MarikaChandra VijayJana Siddhartha SKwabi-Addo BernardKorba Brent EShahzad SharoonBhatti Muhammad FarrukhGhosh Somiranjan - To explore the differential expression of genes between wild-type chronic compressive injury (CCI) mice (WT-CCI) and interferon regulatory factors 4 (IRF4) knockout CCI mice (KO-CCI) by RNA-seq analysis of the mouse spinal cord. - Source: PubMed
Peng JiayiWu YunlinE QiZhou ZiyinWen Xianjie