Ask about this productRelated genes to: KCNK4 antibody
- Gene:
- KCNK4 NIH gene
- Name:
- potassium two pore domain channel subfamily K member 4
- Previous symbol:
- -
- Synonyms:
- K2p4.1, TRAAK
- Chromosome:
- 11q13.1
- Locus Type:
- gene with protein product
- Date approved:
- 2000-04-13
- Date modifiied:
- 2016-10-05
Related products to: KCNK4 antibody
Related articles to: KCNK4 antibody
- Epilepsy with febrile seizures plus (EFS+) is a syndrome with a strong genetic component. Previously, variants in several genes encoding ion channels have been associated with EFS+. However, the etiology in the majority of patients remains undetermined. - Source: PubMed
Publication date: 2025/03/31
Yan Hong-JunLiu Wen-HuiXu Min-XingWang Peng-YuGu Yu-JieLi HuaGuo JingLuo Sheng - Potassium ion channels play a crucial role in maintaining cellular electrical stability and are implicated in various epilepsies. Heterozygous pathogenic variants in KCNK4 cause a recognizable neurodevelopmental syndrome with facial dysmorphism, hypertrichosis, epilepsy, intellectual disability (ID), and gingival overgrowth (FHEIG). To date, no more than nine patients with FHEIG have been described worldwide and still little is known about epileptic phenotype in KCNK4-related disease. - Source: PubMed
Publication date: 2024/08/09
Krygier MagdalenaZiętkiewicz SzymonTalaśka-Liczbik WeronikaChylińska MagdalenaWalczak AnnaKostrzewa GrażynaPłoski RafałMazurkiewicz-Bełdzińska Maria - The axon initial segment (AIS) is a critical compartment in neurons. It converts postsynaptic input into action potentials that subsequently trigger information transfer to target neurons. This process relies on the presence of several voltage-gated sodium (Na) and potassium (K) channels that accumulate in high densities at the AIS. TRAAK is a mechanosensitive leak potassium channel that was recently localized to the nodes of Ranvier. Here, we uncover that TRAAK is also present in AISs of hippocampal and cortical neurons in the adult rat brain as well as in AISs of cultured rat hippocampal neurons. We show that the AIS localization is driven by a C-terminal ankyrin G-binding sequence that organizes TRAAK in a 190 nm spaced periodic pattern that codistributes with periodically organized ankyrin G. We furthermore uncover that while the identified ankyrin G-binding motif is analogous to known ankyrin G-binding motifs in Na1 and K7.2/K7.3 channels, it was acquired by convergent evolution. Our findings identify TRAAK as an AIS ion channel that convergently acquired an ankyrin G-binding motif and expand the role of ankyrin G to include the nanoscale organization of ion channels at the AIS. - Source: PubMed
Publication date: 2024/07/26
Luque-Fernández VirginiaVanspauwen Sam KLandra-Willm ArnaudArvedsen EmilBesquent MaïlysSandoz GuillaumeRasmussen Hanne B - TREK2, a two-pore domain potassium channel, is recognized for its regulation by various stimuli, including lipids. While previous members of the TREK subfamily, TREK1 and TRAAK, have been investigated to elucidate their lipid affinity and selectivity, TREK2 has not been similarly studied in this regard. Our findings indicate that while TRAAK and TREK2 exhibit similarities in terms of electrostatics and share an overall structural resemblance, there are notable distinctions in their interaction with lipids. Specifically, SAPI(4,5)P2,1-stearoyl-2-arachidonoyl--glycero-3-phospho-(1'-myo-inositol-4',5'-bisphosphate) exhibits a strong affinity for TREK2, surpassing that of dOPI(4,5)P2,1,2-dioleoyl--glycero-3-phospho-(1'-myo-inositol-4',5'-bisphosphate), which differs in its acyl chains. TREK2 displays lipid binding preferences not only for the headgroup of lipids but also toward the acyl chains. Functional studies draw a correlation for lipid binding affinity and activity of the channel. These findings provide important insight into elucidating the molecular prerequisites for specific lipid binding to TREK2 important for function. - Source: PubMed
Publication date: 2024/06/06
Stover LaurenZhu YunSchrecke SamanthaLaganowsky Arthur - Bipolar disorder (BD) is a heritable mental illness with complex etiology. While the largest published genome-wide association study identified 64 BD risk loci, the causal SNPs and genes within these loci remain unknown. We applied a suite of statistical and functional fine-mapping methods to these loci, and prioritized 17 likely causal SNPs for BD. We mapped these SNPs to genes, and investigated their likely functional consequences by integrating variant annotations, brain cell-type epigenomic annotations, brain quantitative trait loci, and results from rare variant exome sequencing in BD. Convergent lines of evidence supported the roles of genes involved in neurotransmission and neurodevelopment including and in BD. These represent promising candidates for functional experiments to understand biological mechanisms and therapeutic potential. Additionally, we demonstrated that fine-mapping effect sizes can improve performance of BD polygenic risk scores across diverse populations, and present a high-throughput fine-mapping pipeline (https://github.com/mkoromina/SAFFARI). - Source: PubMed
Publication date: 2024/09/17
Koromina MariaRavi AshvinPanagiotaropoulou GeorgiaSchilder Brian MHumphrey JackBraun AliceBidgeli TimChatzinakos ChrisCoombes BrandonKim JaeyoungLiu XiaoxiTerao ChikashiO 'Connell Kevin SAdams MarkRolf AdolfssonAlda MartinAlfredsson LarsAndlauer Till F MAndreassen Ole AAntoniou AnastasiaBaune Bernhard TBengesser SusanneBiernacka JoannaBoehnke MichaelBosch RosaCairns Murray JCarr Vaughan JCasas MiquelCatts StanleyCichon SvenCorvin AidenCraddock NicholasDafnas KonstantinosDalkner NinaDannlowski UdoDegenhardt FranziskaFlorio Arianna DiDikeos DimitrisFellendorf Frederike TabeaFerentinos PanagiotisForstner Andreas JForty LizFrye MarkFullerton Janice MGawlik MichaGizer Ian RGordon-Smith KatherineGreen Melissa JGrigoroiu-Serbanescu MariaGuzman-Parra JoséHahn TimHenskens FransHillert JanJablensky Assen VJones LisaJones IanJonsson LinaKelsoe John RKircher TiloKirov GeorgeKittel-Schneider SarahKogevinas ManolisLandén MikaelLeboyer MarionLenger MelanieLissowska JolantaLochner ChristineLoughland CarmelMacIntyre DonaldMartin Nicholas GMaratou EiriniMathews Carol AMayoral FerminMcElroy Susan LMcGregor Nathaniel WMcIntosh AndrewMcQuillin AndrewMichie PatriciaMitchell Philip BMoutsatsou ParaskeviMowry BryanMüller-Myhsok BertramMyers Richard MNenadić IgorNievergelt CarolineNöthen Markus MNurnberger JohnO 'Donovan MichaelO'Donovan ClaireOphoff Roel AOwen Michael JPantelis ChristosPato CarlosPato Michele TPatrinos George PPawlak Joanna MPerlis Roy HPorichi EvgeniaPosthuma DanielleRamos-Quiroga Josep AntoniReif AndreasReininghaus Eva ZRibasés MartaRietschel MarcellaSchall UlrichSchofield Peter RSchulze Thomas GScott LauraScott Rodney JSerretti AlessandroWeickert Cynthia ShannonSmoller Jordan WArtigas Maria SolerStein Dan JStreit FabianToma ClaudioTooney PaulVawter Marquis PVieta EduardVincent John BWaldman Irwin DWeickert ThomasWitt Stephanie HHong Kyung SueIkeda MasashiIwata NakaoŚwiątkowska BeataWon Hong-HeeEdenberg Howard JRipke StephanRaj TowfiqueColeman Jonathan R IMullins Niamh