2024年12月25日 · GNB2 (G Protein Subunit Beta 2) is a Protein Coding gene. Diseases associated with GNB2 include Sick Sinus Syndrome 4 and Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies. Among its related pathways are ADORA2B mediated anti-inflammatory cytokines production and Thromboxane signalling through TP receptor.

Guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-2 is a protein that in humans is encoded by the GNB2 gene. [4] [5] Heterotrimeric guanine nucleotide-binding proteins , which integrate signals between receptors and effector proteins, are composed of an alpha, a beta, and a gamma subunit. These subunits are encoded by families of ...

A GNB2 gene mutation is associated with familial sinus node and atrioventricular conduction dysfunction. GNB1 and GNB2 alterations confer transformed and resistance phenotypes across a range of human tumors and may be targetable with inhibitors of G protein signaling.

2024年3月5日 · Title: A novel somatic mutation in GNB2 provides new insights to the pathogenesis of Sturge-Weber syndrome. A GNB2 gene mutation is associated with familial sinus node and atrioventricular conduction dysfunction.

2022年6月17日 · The Guanine-nucleotide binding protein 2 (GNB2) encodes for β2 subunit (Gβ2) of the G-protein complex. Keeping in view the increased demand of reliable biomarkers in cancer, the current study was planned to extensively explored GNB2 expression variation and its roles in different cancers using onlin …

A de novo missense variant in GNB2 was recently reported in one individual with developmental delay/intellectual disability (DD/ID) and dysmorphism. We aim to confirm GNB2 as a neurodevelopmental disease gene, and elucidate the GNB2 -associated neurodevelopmental phenotype in a patient cohort.

2010年10月19日 · In this study, we report that guanine nucleotide binding protein-β subunit 2 (Gβ2), a member of the β-subunits of the heterotrimeric G proteins and a WD40 protein, has a crucial function for...

2024年9月17日 · Clinical resource with information about GNB2, Neurodevelopmental disorder with hypotonia and dysmorphic facies, Sick sinus syndrome 4, and available tests. There are links to practice guidelines and authoritative resources like GeneReviews, PubMed, MedlinePlus, PharmGKB and clinicaltrials.gov.

2014年12月8日 · Here we demonstrate that recurrent mutations in the Gβ proteins GNB1 and GNB2 confer cytokine-independent growth and activate canonical G protein signaling. Multiple mutations in GNB1 affect the...

2021年8月26日 · Heterotrimeric G proteins, made up of an alpha subunit (see GNAS, 139320), a beta subunit, like GNB2 (see also GNB1; 139380), and a gamma subunit (see GNG2, 606981), relay signals from cell surface receptors to internal effectors.