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    KCNK4 potassium two pore domain channel subfamily K member 4 [ Homo sapiens (human) ]

    Gene ID: 50801, updated on 27-Nov-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    A recurrent KCNK4 variant in a dominant pedigree with hypertrichosis and gingival fibromatosis syndrome: Variable phenotypic expressivity and insights on patients' dental management.

    A recurrent KCNK4 variant in a dominant pedigree with hypertrichosis and gingival fibromatosis syndrome: Variable phenotypic expressivity and insights on patients' dental management.
    Elhossini RM, Sayed IM, Hellal US, Mahmoud SAM, Aglan MS, Hassib NF, Abdel-Hamid MS.

    12/28/2023
    Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3-a subgroup of K(+) channelopathies.

    Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3-a subgroup of K(+) channelopathies.
    Gripp KW, Smithson SF, Scurr IJ, Baptista J, Majumdar A, Pierre G, Williams M, Henderson LB, Wentzensen IM, McLaughlin H, Leeuwen L, Simon MEH, van Binsbergen E, Dinulos MBP, Kaplan JD, McRae A, Superti-Furga A, Good JM, Kutsche K., Free PMC Article

    03/26/2022
    Physical basis for distinct basal and mechanically gated activity of the human K(+) channel TRAAK.

    Physical basis for distinct basal and mechanically gated activity of the human K(+) channel TRAAK.
    Rietmeijer RA, Sorum B, Li B, Brohawn SG., Free PMC Article

    10/9/2021
    Selective regulation of human TRAAK channels by biologically active phospholipids.

    Selective regulation of human TRAAK channels by biologically active phospholipids.
    Schrecke S, Zhu Y, McCabe JW, Bartz M, Packianathan C, Zhao M, Zhou M, Russell D, Laganowsky A., Free PMC Article

    02/20/2021
    TRAAK, TREK1 and TREK2 are robustly mechanosensitive K+-selective channels of the K2P family and are modulated by chemical and physical stimuli including lipids, lysolipids, arachidonic acid and other polyunsaturated fatty acids.

    Decreased expression of TRAAK channels in Hirschsprung's disease: a possible cause of postoperative dysmotility.
    O'Donnell AM, Nakamura H, Parekh B, Puri P.

    02/15/2020
    The pleiotropic effect of dysregulated KCNK4 function.

    Mutations in KCNK4 that Affect Gating Cause a Recognizable Neurodevelopmental Syndrome.
    Bauer CK, Calligari P, Radio FC, Caputo V, Dentici ML, Falah N, High F, Pantaleoni F, Barresi S, Ciolfi A, Pizzi S, Bruselles A, Person R, Richards S, Cho MT, Claps Sepulveda DJ, Pro S, Battini R, Zampino G, Digilio MC, Bocchinfuso G, Dallapiccola B, Stella L, Tartaglia M., Free PMC Article

    05/18/2019
    Functional alanine-mutagenesis screens of TASK-1 and TRAAK were used to build an in silico model of the TASK-1 cap.

    Functional mutagenesis screens reveal the 'cap structure' formation in disulfide-bridge free TASK channels.
    Goldstein M, Rinné S, Kiper AK, Ramírez D, Netter MF, Bustos D, Ortiz-Bonnin B, González W, Decher N., Free PMC Article

    01/14/2017
    KCNK4 promoter methylation is associated with Breast Cancer.

    Racial variation in breast tumor promoter methylation in the Carolina Breast Cancer Study.
    Conway K, Edmiston SN, Tse CK, Bryant C, Kuan PF, Hair BY, Parrish EA, May R, Swift-Scanlan T., Free PMC Article

    02/27/2016
    How ion channels sense mechanical force: insights from mechanosensitive K2P channels TRAAK, TREK1, and TREK2.

    How ion channels sense mechanical force: insights from mechanosensitive K2P channels TRAAK, TREK1, and TREK2.
    Brohawn SG.

    12/26/2015
    findings uncover a unique aspect of potassium channel modulation, indicate a means for how the channel C-terminal cytoplasmic domain affects the C-type gate, and suggest how lipids and bilayer inner leaflet deformations gate the channel.

    Transmembrane helix straightening and buckling underlies activation of mechanosensitive and thermosensitive K(2P) channels.
    Lolicato M, Riegelhaupt PM, Arrigoni C, Clark KA, Minor DL Jr., Free PMC Article

    04/11/2015
    TRAAK is responsive to mechanical forces similar to the ion channel Piezo1; mechanical activation of TRAAK can electrically counter Piezo1 activation.

    Mechanosensitivity is mediated directly by the lipid membrane in TRAAK and TREK1 K+ channels.
    Brohawn SG, Su Z, MacKinnon R., Free PMC Article

    05/10/2014
    structure reveals a domain-swapped chain connectivity enabled by the helical cap that exchanges two opposing outer helices 180 degrees around the channel

    Domain-swapped chain connectivity and gated membrane access in a Fab-mediated crystal of the human TRAAK K+ channel.
    Brohawn SG, Campbell EB, MacKinnon R., Free PMC Article

    04/13/2013
    crystal structure of TRAAK at 3.8 angstroms resolution; channel comprises 2 protomers that create 2-fold symmetric K(+) channel; extracellular surface has a helical cap; 2 diagonally opposed gate-forming inner helices form membrane-interacting structures

    Crystal structure of the human K2P TRAAK, a lipid- and mechano-sensitive K+ ion channel.
    Brohawn SG, del Mármol J, MacKinnon R., Free PMC Article

    02/11/2012
    role for TREK-1 in contributing to uterine quiescence during gestation

    Expression of stretch-activated two-pore potassium channels in human myometrium in pregnancy and labor.
    Buxton IL, Singer CA, Tichenor JN., Free PMC Article

    11/6/2010
    Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)

    Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    Bailey SD, Xie C, Do R, Montpetit A, Diaz R, Mohan V, Keavney B, Yusuf S, Gerstein HC, Engert JC, Anand S, DREAM investigators., Free PMC Article

    09/15/2010
    Observational study of gene-disease association. (HuGE Navigator)

    Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
    Talmud PJ, Drenos F, Shah S, Shah T, Palmen J, Verzilli C, Gaunt TR, Pallas J, Lovering R, Li K, Casas JP, Sofat R, Kumari M, Rodriguez S, Johnson T, Newhouse SJ, Dominiczak A, Samani NJ, Caulfield M, Sever P, Stanton A, Shields DC, Padmanabhan S, Melander O, Hastie C, Delles C, Ebrahim S, Marmot MG, Smith GD, Lawlor DA, Munroe PB, Day IN, Kivimaki M, Whittaker J, Humphries SE, Hingorani AD, ASCOT investigators, NORDIL investigators, BRIGHT Consortium., Free PMC Article

    09/15/2010
    Human TASK-3 was cloned and expressed; protein sequence and activity compared to similar two pore domain potassium channels, including KCNK4 (TRAAK).

    Cloning, localisation and functional expression of a novel human, cerebellum specific, two pore domain potassium channel.
    Chapman CG, Meadows HJ, Godden RJ, Campbell DA, Duckworth M, Kelsell RE, Murdock PR, Randall AD, Rennie GI, Gloger IS.

    02/15/2006
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