KCNJ11 antigen

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636.35 €

Known as:: KCNJ11 antigenic
Catalog number:: 'H00003767-Q01-10
Product Quantity:: 10
Category:: -
Supplier:: ACR
Gene target:: KCNJ11 antigen

Related genes to: KCNJ11 antigen

Gene:: KCNJ11 ^{NIH gene}
Name:: potassium voltage-gated channel subfamily J member 11
Previous symbol:: -
Synonyms:: Kir6.2, BIR
Chromosome:: 11p15.1
Locus Type:: gene with protein product
Date approved:: 1997-09-12
Date modifiied:: 2018-03-06

Related products to: KCNJ11 antigen

Related articles to: KCNJ11 antigen

Low-level mosaic variants causing the pancreatic disease congenital hyperinsulinism can be detected from blood DNA.
A substantial proportion of individuals with a well-defined monogenic disorder remain without a genetic diagnosis. Low-level mosaic pathogenic variants are recognised as an underappreciated cause of monogenic disease but are technically challenging to detect, particularly in organ-specific conditions when affected tissue is inaccessible. - Source: PubMed
Publication date: 2026/05/25
Bennett Jasmin JLaver Thomas WMännistö Jonna M EHoughton Jayne A LDe Franco ElisaKalyon OguzhanWright SabrinaJohnson Anna-MarieDe Leon Diva DGloba EvgeniaKummer SebastianBanerjee IndraneelDastamani Antonia Wakeling Matthew NJohnson Matthew BFlanagan Sarah E
Subunit composition of the KATP channels that modulate contractility of skeletal muscle during fatigue.
ATP-sensitive potassium (KATP) channels are among the most expressed ion channels in skeletal muscle sarcolemma. While all KATP subunits can be detected in skeletal muscles, transcripts are enriched for KCNJ11 and ABCC9, suggesting that noncanonical Kir6.2/SUR2A assembly may constitute the majority of sarcolemmal KATP channels, but there has been no systematic dissection of KATP makeup in skeletal muscles. Here, we used a unique collection of murine lines selectively lacking specific channel-forming subunits (knockout, KO), and combined a genetic and pharmacological approach to determine which subunits of KATP channels are functionally relevant for skeletal muscle contraction. Under fatiguing conditions, isometric tetanic contraction experiments on murine extensor digitorum longus (EDL) revealed delayed loss of stimulated forces, and significant development of unstimulated forces, in muscles lacking Kir6.2 or SUR2 subunits, whereas loss of the SUR1 subunit did not impact muscle functionality. While pharmacological inhibition of sarcolemmal channels with glibenclamide causes comparable development of unstimulated force in wild-type muscles, acute pharmacological modulators of sarcolemmal KATP channels in isolated Kir6.2 or SUR2 KO muscles resulted in no changes in contractility properties, further consistent with no additional sarcolemmal KATP channels including Kir6.1 or SUR1 subunits. Our data show that fast-twitch skeletal muscle EDL relies on functional noncanonical KATP channels only made by ABCC9 (SUR2) and KCNJ11 (Kir6.2) gene products for contraction and suggest that similar contractile deficits will be present in ABCC9-dependent intellectual disability myopathy syndrome and KCNJ11-dependent congenital hyperinsulinism. - Source: PubMed
Publication date: 2026/05/20
Scala RosaChen YuezhouMizrak BerkMeyer Gretchen ANichols Colin G
A novel small-molecule secretagogue, MDC134, amplifies glucose-dependent insulin secretion in pancreatic β-cells.
Insulin secretion from pancreatic β-cells is controlled by multiple mechanisms, including metabolic, electrophysiological, and second-messenger pathways. To identify insulinotropic small molecules, we performed in silico similarity screening using zatebradine, an HCN-channel ligand, as a structural query and functionally evaluated 26 hit compounds. Compound 2 showed the strongest insulinotropic activity and was used to synthesize the novel compound MDC134. MDC134 enhanced insulin secretion in MIN6-K8 cells and isolated mouse islets under stimulatory glucose conditions. MDC134 enhanced insulin secretion in isolated mouse islets and showed a tendency to increase insulin secretion in isolated non-diabetic human islets. Under high-glucose conditions, MDC134 increased intracellular Ca levels, and nifedipine abolished its insulinotropic effect, indicating the involvement of voltage-dependent L-type Ca channel-mediated Ca influx. MDC134 also increased cellular cAMP content, although less potently than GLP-1. MDC134 treatment did not clearly affect glucose tolerance in C57BL/6J or ob/ob mice but significantly suppressed glucose elevation in β-cell-specific Kcnj11 knockout mice. These findings identify MDC134 as a novel glucose-dependent insulinotropic small molecule that enhances β-cell insulin secretion through Ca influx and cAMP-associated amplification, and suggest that it may be useful for therapeutic strategies for diabetes characterized by impaired insulin secretion. - Source: PubMed
Publication date: 2026/05/15
Murao NaoyaTakahashi HarumiYokoi NorihideOkano KentaroOduori Okechi SCarmean Christopher MOgawa WataruSugawara Kenji
Novel Phenotype due to Pathogenic Variant Associated with Maturity-Onset Diabetes of the Young-KCNJ-11.
Maturity-onset diabetes of the young (MODY) is caused by pathogenic variants in the KATP channel of the pancreatic β-cell leading to altered insulin secretion. Bi-allelic loss-of-function variants lead to neonatal diabetes mellitus (DM) whereas heterozygous gain-of-function variants lead to congenital hyperinsulinism. Heterozygous loss-of-function variants, however, are suggested to cause a bimodal pattern with hyperinsulinaemic hypoglycaemia in early life (with an often-mild presentation) and progressing to glucose intolerance in early adulthood. - Source: PubMed
Publication date: 2026/04/30
Reunes MichielMatthys ImkeVan Damme Tim
Personalized Profiles of Autonomic Regulation in Elite Athletes: Analysis of Genetic and Cardiorespiratory Determinants Using Decision Tree Modeling.
: The aim of this pilot study was to evaluate the hierarchical contribution of individual genetic polymorphisms to the variability of autonomic regulation parameters and respiratory function in athletes of different sport specializations using Classification and Regression Tree (CRT) analysis. : The study included athletes divided into two groups: hockey players ( = 48) and martial artists ( = 43). Heart rate variability (LF, HF) parameters and spirometric indices (FEV) were assessed. Genetic analysis included 8 single nucleotide polymorphisms (SNPs): IL6 rs1800795, VDR rs731236, KCNJ11 rs5219, ADRB2 rs1042713, ADRB2 rs1042714, TRHR rs16892496, MSTN rs1805086, UCP3 rs1800849. : In martial artists, the main predictors were genes responsible for adrenoreceptor sensitivity (ADRB2) and neuroimmune interactions (IL6). In hockey players, the most significant predictors were genes involved in muscle growth (MSTN), energy metabolism (UCP3), and neuroendocrine regulation (TRHR). These findings indicate that similar resting HRV parameters in athletes from different sports may be associated with different genetic polymorphisms, reflecting sport-specific physiological adaptations to training loads. : The results highlight the sport-specific nature of genetic determinants of autonomic regulation. In martial artists, genes related to the immuno-adrenergic axis (IL6, ADRB2) appear to play a dominant role, whereas in hockey players neuroendocrine, muscle-metabolic, and mitochondrial factors (TRHR, MSTN, UCP3) demonstrate greater influence. The observed interactions between genotypes and FEV emphasize the importance of transitioning from generalized approaches toward personalized monitoring strategies in sports science. - Source: PubMed
Publication date: 2026/04/21
Bacheva IrinaIbrayeva LyazatRybalkina DinaKadyrova IrinaZhumagaliyeva Diana

KCNJ11 antigen

Related genes to: KCNJ11 antigen

Related products to: KCNJ11 antigen

Related articles to: KCNJ11 antigen

Low-level mosaic variants causing the pancreatic disease congenital hyperinsulinism can be detected from blood DNA.

Subunit composition of the KATP channels that modulate contractility of skeletal muscle during fatigue.

A novel small-molecule secretagogue, MDC134, amplifies glucose-dependent insulin secretion in pancreatic β-cells.

Novel Phenotype due to Pathogenic Variant Associated with Maturity-Onset Diabetes of the Young-KCNJ-11.

Personalized Profiles of Autonomic Regulation in Elite Athletes: Analysis of Genetic and Cardiorespiratory Determinants Using Decision Tree Modeling.