KCNJ16 Pre-design Chimera RNAi
- Known as:
- KCNJ16 Pre-design Chimera RNAi
- Catalog number:
- H00003773-R01
- Product Quantity:
- 20 nmol
- Category:
- -
- Supplier:
- Abno
- Gene target:
- KCNJ16 Pre-design Chimera RNAi
Related genes to: KCNJ16 Pre-design Chimera RNAi
- 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 Pre-design Chimera RNAi
Related articles to: KCNJ16 Pre-design Chimera RNAi
- The pivotal role of Kir5.1 (KCNJ16) in maintaining electrolyte and acid-base homeostasis has been demonstrated in animal studies and highlighted by the identification of disease-causing variants in KCNJ16 resulting in Hypokalemia Tubulopathy and Deafness (HkTD) with variable severity. Although the underlying molecular mechanisms remain elusive, the modus operandi of Kir5.1 is deeply rooted in its heteromeric association with Kir4.1 (KCNJ10) and Kir4.2 (KCNJ15). The ubiquitous expression of KCNJ16 and the heterogenous clinical picture point towards the importance of protein-protein interactions and membrane trafficking of the heteromeric channels involving Kir5.1. - Source: PubMed
Publication date: 2026/08/10
Gondra LeireMora ShivaniShaikh Imran GGarcia-Castaño AlejandroSchilling FranziskaAriceta GemaGarcía-Suarez LeireTejera-Carreño PatriciaFernández-Juarez GemaRodríguez Alfredo SantanaPujol-Giménez JonaiGarcía-Alonso MartaGómez-Conde SaraAranaga-Decori Ainhoa CamilleKoemhoff MartinRenigunta VijayWeber StefanieMadariaga LeireRenigunta Aparna - Sudden Unexpected Death in Epilepsy (SUDEP) is a leading cause of death in patients with epilepsy and is thought to result from dysfunctional and/or failure of cardiorespiratory control systems. Post-mortem brainstem tissue analyses in human SUDEP cases point to reductions in markers of the brainstem serotonin (5-HT) system, which is known as a brainstem center that provides excitatory neuromodulation. We have previously shown in a knockout rat model (SS rats) that repeated seizures led to progressively greater ventilatory inhibition in the post-seizure period, seizure-associated mortality, and reduced brainstem 5-HT and tryptophan hydroxylase (Tph) particularly within the Raphe Magnus (RMg). Here, we account for the cellular constituency and local transcriptional responses to repeated seizures in male SS rats that experienced daily seizures for 3, 5, 7, or 10 consecutive days using single nuclear RNA sequencing (snRNA seq) from brainstem tissue biopsies including the RMg (-12.12 mm to -10.30 mm caudal to Bregma) two hours post-seizure. Unbiased cluster analysis identified 18 cell major clusters that were by identified by the expression of known gene markers, with most cells being oligodendrocytes. However, local RMg neurons showed the greatest numbers of differentially expressed genes with seizures compared to all other cell types. Further re-clustering of neuronal cell types yielded 14 distinct RMg neuron subpopulations, including 5 types of GABAergic neurons, 2 glutamatergic clusters, and 2 groups of 5-HT neurons which all had unique expression profiles. Nearly all DEGs across neuronal subtypes were increased following seizures, and a large fraction of which were common across seizure days and across neuron type suggesting uniformity in cellular response to seizures in this region. These studies provide foundational information regarding the cellular constituency of the RMg region in the rat, and altered neuronal function following repeated seizures in the absence of changes in other cell types in this key region of cardiorespiratory control. - Source: PubMed
Publication date: 2026/07/20
Bittencourt-Silva PalomaVazirabad IbrahimEilbes MelissaZangl LukeOsmani WasifHodges Matthew R - A 13-year-old girl, born to third-degree consanguineous parents, presented with acute flaccid paralysis. There was a past history of a similar episode at 5 years of age. Her current laboratory investigations revealed hypokalemia and normal anion gap-metabolic acidosis. Pure tone audiometry showed bilateral sensorineural hearing loss (SNHL). There was no nephrocalcinosis, ataxia, or epilepsy. Whole exome sequencing detected a homozygous deletion (c.269_270del) in exon 4 of KCNJ16 gene that led to frameshift and premature truncation of the protein (p. Ser90CysfsTer15; ENST00000392671.6). She was managed with potassium citrate. KCNJ16 tubulopathy should be considered in the differential diagnosis of children presenting with metabolic acidosis, hypokalemia, and SNHL. In literature, clinical phenotypes of hypokalemic metabolic acidosis as well as salt-losing tubulopathies with hypokalemic metabolic alkalosis are described in this disorder. This is the first report of a child with p.Ser90CysfsTer15 homozygous frameshift KCNJ16 mutation, who presented with hypokalemia and metabolic acidosis, and had severe clinical manifestations. - Source: PubMed
Publication date: 2026/07/20
Deepthi BobbityKrishnasamy SudarsanSivakumar Ramge RamachandranBhatt Girish ChandraRangaswamy Darshan RajatadriKrishnamurthy Sriram - Decreased dietary K intake stimulates the expression of regulatory-associated protein of mTOR (RAPTOR) in kidneys and increases mRNA of in aldosterone-sensitive distal nephrons. The aim of the study is to explore the role of mechanistic target of rapamycin complex-1 (mTORc1) in stimulating Kir4.1/Kir5.1 and Na-Cl cotransporter (NCC), and inhibiting renal outer medullary K channel (ROMK or Kir1.1) and epithelial-Na channel (ENaC) during overnight low K intake (LK). Deletion of RAPTOR in kidneys inhibited basolateral Kir4.1/Kir5.1 of distal convoluted tubule (DCT) and decreased the expression of phosphor-NCC and total-NCC. Furthermore, ENaC and ROMK baseline activity in late DCT/early connecting tubule (CNT) and cortical collecting duct (CCD) of kidney tubule-specific RAPTOR knockout mice (Ks-RAPTOR-KO) were higher than mice. Consequently, Ks-RAPTOR-KO mice had higher baseline kidney K excretion and lower plasma K concentrations than mice. Overnight LK intake stimulated Kir4.1/Kir5.1 activity of DCT and the expression of phosphor-NCC and total-NCC in mice. In contrast, overnight LK failed to stimulate Kir4.1/Kir5.1 of the DCT and did not increase the expression of phosphor-NCC and total-NCC in Ks-RAPTOR-KO mice. Moreover, overnight LK inhibits ROMK and ENaC in late DCT/early CNT and CCD only in mice but not in Ks-RAPTOR-KO mice. Thus, male/female Ks-RAPTOR-KO mice on overnight LK had lower plasma K levels and higher kidney K excretion than mice. We conclude that mTORc1 plays a key role in suppressing kidney K excretion during decreased dietary K intake. We demonstrate that mechanistic target of rapamycin complex-1 (mTORc1) plays a key role in preventing excessive K waste during decreased dietary K intake by stimulating Kir4.1/Kir5/1 and inhibiting epithelial-Na channel (ENaC) and renal outer medullary K channel (ROMK) in aldosterone-sensitive distal nephron (ASDN). Thus, mechanistic target of rapamycin (mTOR) signaling pathway is essential for maintaining body K homeostasis under control conditions and during low dietary K intake. - Source: PubMed
Publication date: 2026/07/07
Zheng Jun-YaDuan Xin-PengWang Wen-HuiLin Dao-Hong - Angiotensin-II plays an important role in regulating thiazide-sensitive Na-Cl-cotransporter (NCC) encoded by Slc12A3. Moreover, inwardly-rectifying-K + (Kir) channels 4.1/Kir5.1 encoded by Kcnj10 and Kcnj16 have been shown to determine NCC expression/activity. This review discusses the role of Kir4.1/Kir5.1 of distal-convoluted-tubule (DCT) in mediating the effect of angiotensin-II on NCC expression/activity. - Source: PubMed
Publication date: 2026/06/03
Wang Wen-HuiLin Dao-Hong