U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination
    • Showing Current items.

    GNB5 G protein subunit beta 5 [ Homo sapiens (human) ]

    Gene ID: 10681, updated on 19-Jun-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    The association of GNB5 with Alzheimer disease revealed by genomic analysis restricted to variants impacting gene function.

    The association of GNB5 with Alzheimer disease revealed by genomic analysis restricted to variants impacting gene function.
    Zhang J, Pandey M, Awe A, Lue N, Kittock C, Fikse E, Degner K, Staples J, Mokhasi N, Chen W, Yang Y, Adikaram P, Jacob N, Greenfest-Allen E, Thomas R, Bomeny L, Zhang Y, Petros TJ, Wang X, Li Y, Simonds WF.,

    03/11/2024
    Inheritance of c.628-6G>A GNB5 hypomorphic allele uncovers another challenge in the pathogenic prediction of genomic variants.

    Inheritance of c.628-6G>A GNB5 hypomorphic allele uncovers another challenge in the pathogenic prediction of genomic variants.
    Pijuan J, Vilanova-Adell A, Casas-Alba D, Campistol J, Hoenicka J, Palau F.

    02/9/2024
    Inhibition of G-protein signalling in cardiac dysfunction of intellectual developmental disorder with cardiac arrhythmia (IDDCA) syndrome.

    Inhibition of G-protein signalling in cardiac dysfunction of intellectual developmental disorder with cardiac arrhythmia (IDDCA) syndrome.
    De Nittis P, Efthymiou S, Sarre A, Guex N, Chrast J, Putoux A, Sultan T, Raza Alvi J, Ur Rahman Z, Zafar F, Rana N, Rahman F, Anwar N, Maqbool S, Zaki MS, Gleeson JG, Murphy D, Galehdari H, Shariati G, Mazaheri N, Sedaghat A, SYNAPS Study Group, Lesca G, Chatron N, Salpietro V, Christoforou M, Houlden H, Simonds WF, Pedrazzini T, Maroofian R, Reymond A., Free PMC Article

    03/12/2022
    Extended Phenotyping and Functional Validation Facilitate Diagnosis of a Complex Patient Harboring Genetic Variants in MCCC1 and GNB5 Causing Overlapping Phenotypes.

    Extended Phenotyping and Functional Validation Facilitate Diagnosis of a Complex Patient Harboring Genetic Variants in MCCC1 and GNB5 Causing Overlapping Phenotypes.
    Shao Z, Masuho I, Tumber A, Maynes JT, Tavares E, Ali A, Hewson S, Schulze A, Kannu P, Martemyanov KA, Vincent A., Free PMC Article

    02/12/2022
    Cryo-EM structure of human GPR158 receptor coupled to the RGS7-Gbeta5 signaling complex.

    Cryo-EM structure of human GPR158 receptor coupled to the RGS7-Gβ5 signaling complex.
    Patil DN, Singh S, Laboute T, Strutzenberg TS, Qiu X, Wu D, Novick SJ, Robinson CV, Griffin PR, Hunt JF, Izard T, Singh AK, Martemyanov KA., Free PMC Article

    01/15/2022
    Structure of the class C orphan GPCR GPR158 in complex with RGS7-Gbeta5.

    Structure of the class C orphan GPCR GPR158 in complex with RGS7-Gβ5.
    Jeong E, Kim Y, Jeong J, Cho Y., Free PMC Article

    12/25/2021
    IDDCA syndrome in a Chinese infant due to GNB5 biallelic mutations.

    IDDCA syndrome in a Chinese infant due to GNB5 biallelic mutations.
    Tang M, Wang Y, Xu Y, Tong W, Jin D, Yang XA.

    02/2/2021
    [Intellectual developmental disorder with cardiac arrhythmia syndrome in a family caused by GNB5 variation and literature review].

    [Intellectual developmental disorder with cardiac arrhythmia syndrome in a family caused by GNB5 variation and literature review].
    Mai JH, Ou ZH, Chen L, Duan J, Liao JX, Han CX.

    12/5/2020
    provide mechanistic insights and proof of principle for potential therapy in patients carrying GNB5 mutations

    Genetic variation in GNB5 causes bradycardia by augmenting the cholinergic response via increased acetylcholine-activated potassium current (I(K,ACh)).
    Veerman CC, Mengarelli I, Koopman CD, Wilders R, van Amersfoorth SC, Bakker D, Wolswinkel R, Hababa M, de Boer TP, Guan K, Milnes J, Lodder EM, Bakkers J, Verkerk AO, Bezzina CR., Free PMC Article

    05/9/2020
    GNB5 overexpression contributes to cetuximab resistance in colorectal cancer.

    Systems analysis identifies potential target genes to overcome cetuximab resistance in colorectal cancer cells.
    Park SM, Hwang CY, Cho SH, Lee D, Gong JR, Lee S, Nam S, Cho KH.

    05/2/2020
    GNB5 developmental and epileptic encephalopathy is characterized by epileptic spasms, focal seizures, and profound impairment.

    The epileptology of GNB5 encephalopathy.
    Poke G, King C, Muir A, de Valles-Ibáñez G, Germano M, Moura de Souza CF, Fung J, Chung B, Fung CW, Mignot C, Ilea A, Keren B, Vermersch AI, Davis S, Stanley T, Moharir M, Kannu P, Shao Z, Malerba N, Merla G, Mefford HC, Scheffer IE, Sadleir LG.

    04/18/2020
    The PSD-95 GK domain binds to Gnb5, and this interaction is triggered by CRIPT-derived PDZ3 ligands binding to the third PDZ domain of PSD-95, unraveling a hierarchical binding mechanism of PSD-95 complex formation.

    Intramolecular domain dynamics regulate synaptic MAGUK protein interactions.
    Rademacher N, Kuropka B, Kunde SA, Wahl MC, Freund C, Shoichet SA., Free PMC Article

    04/4/2020
    Data mapped differences in deuterium exchange between the regulator of G protein signaling 7 (RGS7)-Gbeta5 protein(Gbeta5)-RGS7 family binding protein (R7BP) trimer and the RGS7-Gbeta5 dimer.

    Structural organization of a major neuronal G protein regulator, the RGS7-Gβ5-R7BP complex.
    Patil DN, Rangarajan ES, Novick SJ, Pascal BD, Kojetin DJ, Griffin PR, Izard T, Martemyanov KA., Free PMC Article

    04/27/2019
    individuals with loss-of-function GNB5 alleles had more severe symptoms, including substantial developmental delay, speech defects, severe hypotonia, pathological gastro-esophageal reflux, retinal disease, and sinus-node dysfunction, whereas related heterozygotes harboring missense variants presented with a clinically milder phenotype

    GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability.
    Lodder EM, De Nittis P, Koopman CD, Wiszniewski W, Moura de Souza CF, Lahrouchi N, Guex N, Napolioni V, Tessadori F, Beekman L, Nannenberg EA, Boualla L, Blom NA, de Graaff W, Kamermans M, Cocciadiferro D, Malerba N, Mandriani B, Akdemir ZHC, Fish RJ, Eldomery MK, Ratbi I, Wilde AAM, de Boer T, Simonds WF, Neerman-Arbez M, Sutton VR, Kok F, Lupski JR, Reymond A, Bezzina CR, Bakkers J, Merla G., Free PMC Article

    05/7/2017
    Results suggest that D2R can interact with and stabilize the Gb5 protein, independently of R7 G protein signaling (RGS) proteins.

    G protein beta 5 is targeted to D2-dopamine receptor-containing biochemical compartments and blocks dopamine-dependent receptor internalization.
    Octeau JC, Schrader JM, Masuho I, Sharma M, Aiudi C, Chen CK, Kovoor A, Celver J., Free PMC Article

    11/28/2015
    The intrinsic resistance to TRAIL-triggered apoptosis of colon cancer cells is overcome by antagonization of Gbeta5.

    The Gβ5 protein regulates sensitivity to TRAIL-induced cell death in colon carcinoma.
    Fuchs D, Metzig M, Bickeböller M, Brandel C, Roth W.

    08/29/2015
    Type 5 G protein beta subunit (Gbeta5) controls the interaction of regulator of G protein signaling 9 (RGS9) with membrane anchors

    Type 5 G protein beta subunit (Gbeta5) controls the interaction of regulator of G protein signaling 9 (RGS9) with membrane anchors.
    Masuho I, Wakasugi-Masuho H, Posokhova EN, Patton JR, Martemyanov KA., Free PMC Article

    09/3/2011
    Gbeta5's function in vision is reviewed.

    The role of Gβ5 in vision.
    Morhardt DR, Guido W, Chen CK.

    07/30/2011
    Observational study of gene-disease association. (HuGE Navigator)

    Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity.
    Hosgood HD 3rd, Zhang L, Shen M, Berndt SI, Vermeulen R, Li G, Yin S, Yeager M, Yuenger J, Rothman N, Chanock S, Smith M, Lan Q., Free PMC Article

    12/2/2009
    cytosolic chaperonin complex-dependent mechanism exists for Gbeta5-RGS7 assembly that utilizes the co-chaperone activity of PhLP1 in a unique way.

    Role of molecular chaperones in G protein beta5/regulator of G protein signaling dimer assembly and G protein betagamma dimer specificity.
    Howlett AC, Gray AJ, Hunter JM, Willardson BM., Free PMC Article

    01/21/2010
    From yeast two hybrid screening with HBX as bait, human guanine nucleotide binding protein beta subunit 5L (GNbeta5) was isolated from the cDNA library constructed in this study as a new hepatitis b X protein-interacting protein.

    Hepatitis B virus X protein interacts with beta5 subunit of heterotrimeric guanine nucleotide binding protein.
    Lwa SH, Chen WN., Free PMC Article

    01/21/2010
    G-protein beta5 short splice variant isoform is indispensable for outer plexiform layer integrity and normal light responses of the retina in transgenic mice.

    Gbeta5 is required for normal light responses and morphology of retinal ON-bipolar cells.
    Rao A, Dallman R, Henderson S, Chen CK., Free PMC Article

    01/21/2010
    cytoplasmic RGS7*Gbeta5*R7BP heterotrimers and RGS7*Gbeta5 heterodimers are equivalently inefficient regulators of G protein-coupled receptor signaling relative to plasma membrane-bound heterotrimers bearing palmitoylated R7BP.

    R7BP augments the function of RGS7*Gbeta5 complexes by a plasma membrane-targeting mechanism.
    Drenan RM, Doupnik CA, Jayaraman M, Buchwalter AL, Kaltenbronn KM, Huettner JE, Linder ME, Blumer KJ.

    01/21/2010
    under certain conditions, RGS9 and Gbeta5 may possibly function as betagamma dimer

    Enhancement of pheromone response by RGS9 and Gbeta5 in yeast.
    Ajit SK, Young KH.

    01/21/2010
    firstprevious page of 1 nextlast