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    GJD2 gap junction protein delta 2 [ Homo sapiens (human) ]

    Gene ID: 57369, updated on 10-Dec-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    Assembly mechanisms of the neuronal gap junction channel connexin 36 elucidated by Cryo-EM.

    Assembly mechanisms of the neuronal gap junction channel connexin 36 elucidated by Cryo-EM.
    Mao W, Chen S.

    04/4/2024
    Restoring connexin-36 function in diabetogenic environments precludes mouse and human islet dysfunction.

    Restoring connexin-36 function in diabetogenic environments precludes mouse and human islet dysfunction.
    St Clair JR, Westacott MJ, Miranda J, Farnsworth NL, Kravets V, Schleicher WE, Dwulet JM, Levitt CH, Heintz A, Ludin NWF, Benninger RKP., Free PMC Article

    09/19/2023
    Cryo-EM structures of human Cx36/GJD2 neuronal gap junction channel.

    Cryo-EM structures of human Cx36/GJD2 neuronal gap junction channel.
    Lee SN, Cho HJ, Jeong H, Ryu B, Lee HJ, Kim M, Yoo J, Woo JS, Lee HH., Free PMC Article

    03/16/2023
    Association of CX36 Protein Encoding Gene GJD2 with Refractive Errors.

    Association of CX36 Protein Encoding Gene GJD2 with Refractive Errors.
    Kunceviciene E, Muskieta T, Sriubiene M, Liutkeviciene R, Smalinskiene A, Grabauskyte I, Insodaite R, Juoceviciute D, Kucinskas L., Free PMC Article

    08/6/2022
    The Role of GJD2(Cx36) in Refractive Error Development.

    The Role of GJD2(Cx36) in Refractive Error Development.
    van der Sande E, Haarman AEG, Quint WH, Tadema KCD, Meester-Smoor MA, Kamermans M, De Zeeuw CI, Klaver CCW, Winkelman BHJ, Iglesias AI., Free PMC Article

    05/14/2022
    Phenotypic Consequences of the GJD2 Risk Genotype in Myopia Development.

    Phenotypic Consequences of the GJD2 Risk Genotype in Myopia Development.
    Haarman AEG, Enthoven CA, Tedja MS, Polling JR, Tideman JWL, Keunen JEE, Boon CJF, Felix JF, Raat H, Geerards AJM, Luyten GPM, van Rijn GA, Verhoeven VJM, Klaver CCW., Free PMC Article

    10/2/2021
    a possible contribution of connexin 36 to amyotrophic lateral sclerosis pathogenesis

    A potential role for neuronal connexin 36 in the pathogenesis of amyotrophic lateral sclerosis.
    Belousov AB, Nishimune H, Denisova JV, Fontes JD., Free PMC Article

    12/22/2018
    Our findings suggest that the stimulatory effect of hexanol and isoflurane on Cx36 gap junction conductance could be achieved by re-shuffling of the inter-subunit disulphide bond between C264 and C92 to the intra-subunit one between C264 and C87.

    Molecular basis for potentiation of Cx36 gap junction channel conductance by n-alcohols and general anesthetics.
    Raškevičius V, Jotautis V, Rimkutė L, Marandykina A, Kazokaitė M, Kairys V, Skeberdis VA., Free PMC Article

    08/18/2018
    Our studies have shown that the heritability of myopia makes 66.4% in Lithuania. We detected significant associations between the combinations of GJD2 CC and RASGRF1 GT and odds ratio of developing myopia.

    Heritability of myopia and its relation with GDJ2 and RASGRF1 genes in Lithuania.
    Kunceviciene E, Sriubiene M, Liutkeviciene R, Miceikiene IT, Smalinskiene A., Free PMC Article

    06/23/2018
    Study shows that human outer retina displays a diverse cohort of connexin 36 gap junctions that follows the general mammalian scheme and display a great functional diversity.

    Characterization of connexin36 gap junctions in the human outer retina.
    Kántor O, Benkő Z, Énzsöly A, Dávid C, Naumann A, Nitschke R, Szabó A, Pálfi E, Orbán J, Nyitrai M, Németh J, Szél Á, Lukáts Á, Völgyi B.

    09/30/2017
    Sparse punctate Cx36 expression was seen in the myenteric plexus in nerve trunks and some platelet-derived growth factor receptor-alpha-positive cell and interstitial cells of Cajal fibers in patients with Hirschsprung's disease.

    Expression of connexin 26 and connexin 43 is reduced in Hirschsprung's disease.
    Coyle D, Doyle B, Murphy JM, O'Donnell AM, Gillick J, Puri P.

    07/8/2017
    Genetic variants in ZC3H11B, RSPO1, and GJD2 are associated with susceptibility to the development of high myopia in a Han Chinese population.

    Association between Ocular Axial Length-Related Genes and High Myopia in a Han Chinese Population.
    Li YT, Xie MK, Wu J.

    11/19/2016
    It was shown that the decreased level of the examined neuronal proteins was accompanied by the impaired coexpression of synaptophysin/neurofilaments and Cx36 in the series of astrocytomas--anaplastic astrocytomas--glioblastomas.

    [The expression of connexin 36 and some neuroglial antigens in human brain astrocytic tumors of different grades].
    Kirichenko EY, Zhukova GV, Grigorov SV, Grankina AO, Atmachidi DP.

    08/22/2015
    In this study, there was no association of the analyzed SNPs located in RASGRF1. GJD2, and ACTC1 with pathological myopia.

    Evaluating the association between pathological myopia and SNPs in RASGRF1. ACTC1 and GJD2 genes at chromosome 15q14 and 15q25 in a Chinese population.
    Chen CD, Yu ZQ, Chen XL, Zhou JQ, Zhou XT, Sun XH, Chu RY.

    08/8/2015
    Three SNP alleles in BRD2, Cx-36, and ME2 and microdeletions in 15q13.3, 15q11.2, and 16p13.11 also contribute risk to juvenile myclonic epilepsy.

    The quest for juvenile myoclonic epilepsy genes.
    Delgado-Escueta AV, Koeleman BP, Bailey JN, Medina MT, Durón RM.

    02/1/2014
    Cx36 GJs are highly cation-selective and should exhibit relatively low permeability to numerous vital negatively charged metabolites and high permeability to potassium ion, a major charge carrier in cell-cell communication.

    Neurons and β-cells of the pancreas express connexin36, forming gap junction channels that exhibit strong cationic selectivity.
    Bukauskas FF., Free PMC Article

    12/22/2012
    A polymorphism of Cx36 gene is associated to certain forms of human diabetes

    [Cellular communication and regulation of insulin in the cell].
    Meda P.

    04/7/2012
    connexin genes Gjd2 coding for mCx36, Gjc1 coding for mCx45 and Gja10 coding for mCx57 in the mouse, a subset of 4 connexin genes, including the unique GJA9 (Cx59) and GJA10 (Cx62), could be detected at least as transcript isoforms in the human retina.

    Expression of connexin genes in the human retina.
    Söhl G, Joussen A, Kociok N, Willecke K., Free PMC Article

    02/5/2011
    Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)

    A genome-wide association study identifies a susceptibility locus for refractive errors and myopia at 15q14.
    Solouki AM, Verhoeven VJ, van Duijn CM, Verkerk AJ, Ikram MK, Hysi PG, Despriet DD, van Koolwijk LM, Ho L, Ramdas WD, Czudowska M, Kuijpers RW, Amin N, Struchalin M, Aulchenko YS, van Rij G, Riemslag FC, Young TL, Mackey DA, Spector TD, Gorgels TG, Willemse-Assink JJ, Isaacs A, Kramer R, Swagemakers SM, Bergen AA, van Oosterhout AA, Oostra BA, Rivadeneira F, Uitterlinden AG, Hofman A, de Jong PT, Hammond CJ, Vingerling JR, Klaver CC, Solouki AM, Verhoeven VJ, van Duijn CM, Verkerk AJ, Ikram MK, Hysi PG, Despriet DD, van Koolwijk LM, Ho L, Ramdas WD, Czudowska M, Kuijpers RW, Amin N, Struchalin M, Aulchenko YS, van Rij G, Riemslag FC, Young TL, Mackey DA, Spector TD, Gorgels TG, Willemse-Assink JJ, Isaacs A, Kramer R, Swagemakers SM, Bergen AA, van Oosterhout AA, Oostra BA, Rivadeneira F, Uitterlinden AG, Hofman A, de Jong PT, Hammond CJ, Vingerling JR, Klaver CC., Free PMC Articles: PMC4115149, PMC4115149

    12/5/2010
    Variations in GJD2 is associated with refractive errors and myopia.

    A genome-wide association study identifies a susceptibility locus for refractive errors and myopia at 15q14.
    Solouki AM, Verhoeven VJ, van Duijn CM, Verkerk AJ, Ikram MK, Hysi PG, Despriet DD, van Koolwijk LM, Ho L, Ramdas WD, Czudowska M, Kuijpers RW, Amin N, Struchalin M, Aulchenko YS, van Rij G, Riemslag FC, Young TL, Mackey DA, Spector TD, Gorgels TG, Willemse-Assink JJ, Isaacs A, Kramer R, Swagemakers SM, Bergen AA, van Oosterhout AA, Oostra BA, Rivadeneira F, Uitterlinden AG, Hofman A, de Jong PT, Hammond CJ, Vingerling JR, Klaver CC, Solouki AM, Verhoeven VJ, van Duijn CM, Verkerk AJ, Ikram MK, Hysi PG, Despriet DD, van Koolwijk LM, Ho L, Ramdas WD, Czudowska M, Kuijpers RW, Amin N, Struchalin M, Aulchenko YS, van Rij G, Riemslag FC, Young TL, Mackey DA, Spector TD, Gorgels TG, Willemse-Assink JJ, Isaacs A, Kramer R, Swagemakers SM, Bergen AA, van Oosterhout AA, Oostra BA, Rivadeneira F, Uitterlinden AG, Hofman A, de Jong PT, Hammond CJ, Vingerling JR, Klaver CC., Free PMC Articles: PMC4115149, PMC4115149

    10/30/2010
    ZO-2 may serve to anchor regulatory proteins at gap junctions composed of Cx36.

    Direct association of connexin36 with zonula occludens-2 and zonula occludens-3.
    Li X, Lu S, Nagy JI., Free PMC Article

    01/21/2010
    The data show that Cx36 is a native protein of human pancreatic islets, which mediates the coupling of the insulin-producing beta-cells, and contributes to control beta-cell function by modulating gene expression.

    Cx36 makes channels coupling human pancreatic beta-cells, and correlates with insulin expression.
    Serre-Beinier V, Bosco D, Zulianello L, Charollais A, Caille D, Charpantier E, Gauthier BR, Diaferia GR, Giepmans BN, Lupi R, Marchetti P, Deng S, Buhler L, Berney T, Cirulli V, Meda P., Free PMC Article

    01/21/2010
    CaMKII and Cx36 were shown to be significantly colocalized in the inferior olive, a brainstem nucleus highly enriched in electrical synapses, indicating physical proximity of these proteins

    The neuronal connexin36 interacts with and is phosphorylated by CaMKII in a way similar to CaMKII interaction with glutamate receptors.
    Alev C, Urschel S, Sonntag S, Zoidl G, Fort AG, Höher T, Matsubara M, Willecke K, Spray DC, Dermietzel R., Free PMC Article

    01/21/2010
    Beta cells are extensively coupled within pancreatic islets via exchanges of mostly positively charged molecules across Cx36 channels.

    Beta cells preferentially exchange cationic molecules via connexin 36 gap junction channels.
    Charpantier E, Cancela J, Meda P.

    01/21/2010
    The present results provide confirmatory evidence for an allelic and genotypic association of the CX36 gene with juvenile myoclonic epilepsy.

    Confirmatory evidence for an association of the connexin-36 gene with juvenile myoclonic epilepsy.
    Hempelmann A, Heils A, Sander T.

    01/21/2010
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