Ask about this productRelated genes to: KCNJ16 Blocking Peptide
- Gene:
- KCNJ16 NIH gene
- Name:
- potassium voltage-gated channel subfamily J member 16
- Previous symbol:
- -
- Synonyms:
- Kir5.1, BIR9
- Chromosome:
- 17q24.3
- Locus Type:
- gene with protein product
- Date approved:
- 1998-05-29
- Date modifiied:
- 2016-02-04
Related products to: KCNJ16 Blocking Peptide
Related articles to: KCNJ16 Blocking Peptide
- The calcium-sensing-receptor (CaSR) is expressed in the basolateral membrane of distal convoluted tubule (DCT) and CaSR expression inhibited Kir4.1 in cells expressing . The aim of the study is to explore whether CaSR inhibits Kir4.1/Kir5.1 in mouse DCT. We used patch-clamp technique to examine the effect of calcimimetics and increasing extracellular Ca level on the basolateral Kir4.1/Kir5.1 in the DCT. Application of R-568, a CaSR agonist, decreased the 40-pS inwardly rectifying-K channel activity (Kir4.1/Kir5.1 heterotetramer), defined by NP (product of channel number and open probability), in the isolated DCT measured with cell-attached patches. This effect was completely abolished in the DCT treated with phospholipase-C (PLC) inhibitor or protein kinase C (PKC) inhibitor, suggesting that CaSR stimulation-induced inhibition of 40-pS K channel was due to activation of PLC-PKC pathway. Also, neomycin mimicked the effect of R-568 on the basolateral 40-pS K channel and decreased the 40-pS K channel activity. Again, this effect was completely abolished in the DCT treated with calphostin-C. Raising extracellular Ca level to 5 mM reversibly inhibited the 40-pS K channel activity of the DCT and the washout was able to partially restore the channel activity. Moreover, the inhibition of PKC was able to completely abolish the inhibitory effect of 5 mM Ca on the basolateral Kir4.1/Kir5.1 in the DCT. Finally, stimulation of CaSR with neomycin depolarized DCT cell membrane. We conclude that the activation of basolateral CaSR in the DCT inhibits Kir4.1/Kir5.1 and the effect of basolateral CaSR on the K channel is mediated by PLC-PKC pathway. It is not known whether CaSR also inhibits Kir4.1/Kir5.1 in the native DCT. We have now used the patch-clamp experiments to directly demonstrate that the stimulation of CaSR in the basolateral membrane is able to inhibit Kir4.1/Kir5.1 in the mouse DCT and depolarize the DCT membrane potential. We speculate that the stimulation of CaSR-induced inhibition of Kir4.1/Kir5.1 may play a role in decreasing kidney Ca excretion during hypocalcemia. - Source: PubMed
Publication date: 2026/03/26
Wang JunlinZhang JiawenKong ShuminMa PingZhang ZhenWang LijunWang Wen-HuiGu Rui-Min - We describe three unrelated individuals with congenital generalized hypertrichosis with gingival hyperplasia (CGHGH), each carrying a distinct structural rearrangement (duplication, deletion, inversion) at 17q24.2-q24.3 identified by CMA and WGS. Despite differences in the type of rearrangement, all three patients seem to exhibit alterations affecting the genomic architecture of a cluster of genes, particularly involving the ABCA family (notably ABCA5, ABCA6, ABCA9, ABCA10), MAP2K6, and potassium channels (KCNJ16, KCNJ2). These findings suggest that disruption of the local chromatin organization, including topologically associating domains (TADs), may contribute to the pathogenesis of CGHGH. Although previous studies implicated deletions affecting ABCA5 as the likely cause of CGHGH, our findings emphasize a broader spectrum of structural variation capable of producing similar phenotypes. Interestingly, one patient involved a cryptic 1.2 Mb inversion that disrupted the region between ABCA9 and KCNJ2, detectable only by whole genome sequencing, reinforcing the need for advanced molecular diagnostics in patients with syndromic hypertrichosis. In all three individuals, gingival overgrowth co-occurred with typical facial features, coarse hair, and normal cognitive development, adding evidence to the phenotype-genotype correlation. Overall, this study strengthens the hypothesis that disruption of regulatory elements and chromatin architecture at 17q24.2-q24.3, rather than single nucleotide variants alone, can be a primary driver of CGHGH. These findings underscore the need to incorporate genome-wide structural variant analysis in the diagnostic workflow of rare developmental disorders, especially those with heterogeneous or subtle clinical presentations. - Source: PubMed
Publication date: 2026/01/23
Tenorio-Castano JairFeito Martade Lucas RaúlSendagorta ElenaGómez-Fernández CristinaParra AlejandroVallespin ElenaGallego-Zazo NataliaCazalla MarioJiménez-Estrada Juan AMiranda-Alcaraz LuciaMora-Gómez MónicaRodríguez-Canó Manuel JesúsVázquez-Amell ValeriaRamos SergioValle TomásMansilla ElenaSantiago Fe GarcíaGalán-Gómez EnriqueCalpena EduardoRuíz-Pérez Víctor LNevado JuliánLapunzina Pablo - Epilepsy affects millions worldwide, but a significant portion suffers from uncontrollable epilepsy. Repeated seizures have many consequences, including a high risk of post-ictal cardiorespiratory failure and Sudden Unexpected Death in Epilepsy (SUDEP). Major risk factors for SUDEP include biological sex in addition to the occurrence of generalized tonic-clonic seizures (GTCSs). How repeated seizures lead to cardiorespiratory dysfunction remains unknown. A key factor in many neurological diseases is neuroinflammation, predominantly mediated by microglia and astrocytes that become dysfunctional. Mechanistically, questions remain how they affect neuronal function in epilepsy and contribute to cardiorespiratory dysfunction and increased SUDEP risk. Previously, we have shown that repeated seizures in our novel rat model with genetic mutations in , an inwardly rectifying K channel, in the Dahl salt sensitive rat (SS ) led to increased neuroinflammation in key ventilatory regions at 3 and 5 days of seizures. Specifically, there was increased recruitment of various inflammatory mediators, increased recruitment of activated microglia, with improvement in post-ictal respiratory dysfunction and mortality with usage of anti-inflammatory agents. Here we tested the hypothesis that repeated seizures lead to differential neuroinflammatory activation after repeated seizures in CNS regions of ventilatory control. Male SS rats were subjected to 0 (Naïve), 3, 7 or 10 days of seizure, and subsequently, the pre-Bötzinger Complex/Nucleus Ambiguus (preBötC/NA) was isolated and sent for nuclei isolation and sequencing. Seurat was utilized to filter and process the data, integrate across conditions and allow for differential gene expression (DEG) analysis. Afterwards, pathways enrichment analysis was performed allowing for determination of unique pathways recruited across cell types for each seizure condition. Overall, we were able to identify 18 unique cell types based on transcriptomic signatures, with 8 different neuronal populations, grouped based on Type 1, Type 2 or a mixed Type 1 & Type 2 genetic expression, indicating rhythm generation or pattern generation, respectively. We found that majority of the neuronal clusters were Type 1 or mixed type, indicating predominantly rhythmogenic neuronal populations. Importantly, these critical neuronal populations showed significant upregulation in various metabolic and neurological disease pathways at the 3 and 7 Day timepoints. Furthermore, we identified various glial cells, including microglia and astrocytes and saw increased recruitment in various Inflammatory pathways, Metabolic pathways and Chemokine related pathways after 3 and 7Days of seizures, confirming our previous results. Consequently, our results show for the first time, transcriptomic characterization of crucial rhythmogenic neuronal populations after repeated seizures and the changes that may underlie their dysfunction in SUDEP, mediated in part through the network change in upregulated inflammatory pathways in surrounding glial cells. - Source: PubMed
Publication date: 2025/09/22
Osmani Wasif AVazirabad IbrahimRhode NeilMouradian GaryManis AnnaHodges Matthew R - Attraction of glioblastoma cells to potassium was suspected when glioblastoma cells clustered around dying cells and migrated towards serum (high [K]) and increased potassium. Potassium channel proteins (KCN family, 90 members) mediating alterations in the transmembrane flux may provide K that releases H bound to inner membranes in cancer cells for cytosolic proton transfer, possibly conformational in water (Grotthuss), to extrusion sites. Cell settling and migration assay results led to collecting 70 studies, unbiased by the authors for inclusion of KCN genes, that detected KCN differentially expressed genes (DEGs). Of 53 KCN DEGs found among 29 malignancies, 62.3% encoded H-sensitive proteins. KCN DEGs encoding H-sensitive proteins were more prevalent in 50 studies involving one or more categories (seven oncogenes and histone/DNA modifiers) versus those with none; = 0.0325. Pertinent genes for lactate outflow, etc., had relatively normal levels of expression. Brain tumors in REMBRANDT (database) showed altered expression of KCN genes encoding H-sensitive proteins in glioblastomas versus less invasive oligodendrogliomas of patients on anti-seizure medications, with less /Kir5.1; = 5.32 × 10 in glioblastomas. Altered H-sensitive potassium flux via the KCN family, downstream of oncogenes and histone/DNA modifiers, putatively incites proton transfers for H release during pH reversal (pHi > pHe) in cancer. - Source: PubMed
Publication date: 2025/08/16
Beckner Marie E - The "Yufen 1" D line (D) chicken is characterized by strong disease resistance and a high feed conversion rate as a newly bred line. There are few reports on D chicken. In order to investigate the genetic diversity, population structure and selection signals of the D chicken, this study analyzed the genome-wide data of 15 D line chickens and 11 publicly available Chinese indigenous chicken breeds, the red jungle fowls. The genetic diversity of the D chicken was significantly lower than that of the Chinese indigenous chicken breeds and the red jungle fowl, but the inbreeding coefficient (F) was lower. On the one hand, this may be due to the small size of the conserved population, and on the other hand, it suggests that the D line may have received artificial selection during the selection process. Population structure analysis revealed that the D chicken was separated from Chinese indigenous chicken breeds and red jungle fowl, and had a high degree of genetic differentiation from other non-D chicken populations, suggesting that the D chicken is a unique poultry genetic resource worthy of our subsequent enhanced protection and utilization. The selective sweep analysis revealed that the genes selected in the D chicken were mainly enriched in the Toll and Imd signaling pathway and the Gastric acid secretion signaling pathway, including REL, UBE2V1, KCNJ16, and SLC26A7, which might be related to the excellent traits of high disease resistance and high feed conversion ratio in D chicken. In addition, the constructed molecular identity card of D chickens can be used to identify the authenticity of D chickens. These results lay the foundation for further research, conservation, and breeding of "Yufen 1" D line chickens. - Source: PubMed
Publication date: 2025/05/30
Liu CongLiu JianingGuo HaishanLiu ShuangxingLiu PingquanZhu TingqiLi WentingWang KejunKang XiangtaoLi ZhunanSun Guirong