Guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-2

UniProt P62879 Organism Homo sapiens Gene GNB2

Also known as: GNB2

Function

Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein-effector interaction.

Classification

Family (Pfam): PF25391 WD40_Gbeta
InterPro: G-protein_beta_1-5, WD40/YVTN_repeat-like_dom_sf, WD40_G-protein_beta-like, WD40_PAC1, WD40_repeat_CS, WD40_repeat_dom_sf, WD40_rpt
Functional cluster: Histones & Chromatin Proteins

Experimental structures · PDB · 1

9AVL EM 3.80A

A predicted model is available from AlphaFold.

Gene Ontology · 18

Disease associations

sick sinus syndrome 4 MONDO:0859173
neurodevelopmental disorder with hypotonia and dysmorphic facies MONDO:0859185

Neighborhood · nearest proteins

Nearest neighbours of Guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-2: 3 by sequence/function similarity (left); 3 co-cited in the literature (right).

Related proteins · sequence + function similarity

Co-cited proteins · studied together in the literature

Guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-2 2 shared papers
Ataxin-10 1 shared papers
Rho guanine nucleotide exchange factor 18 1 shared papers
Ataxin-10 1 shared papers
Guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-3 1 shared papers
GTP-binding protein Rhes 1 shared papers
Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-3 1 shared papers
Fibroblast growth factor 14 1 shared papers
Guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-1 2 shared papers
Guanine nucleotide-binding protein G(i) subunit alpha-2 1 shared papers
Motile sperm domain-containing protein 3 1 shared papers
Leucine-rich repeat and calponin homology domain-containing protein 4 1 shared papers

Literature · 17 cited papers

Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disability. J. Med. Genet. · 2022
Second patient with GNB2-related neurodevelopmental disease: Further evidence for a gene-disease association. Eur. J. Med. Genet. · 2021
Exome reports A de novo GNB2 variant associated with global developmental delay, intellectual disability, and dysmorphic features. Eur. J. Med. Genet. · 2020
A Mutation in the G-Protein Gene GNB2 Causes Familial Sinus Node and Atrioventricular Conduction Dysfunction. Circ. Res. · 2017
Pathogenic mechanism of recurrent mutations of SCN8A in epileptic encephalopathy. Ann. Clin. Transl. Neurol. · 2016
N-terminome analysis of the human mitochondrial proteome. Proteomics · 2015
Initial characterization of the human central proteome. BMC Syst. Biol. · 2011
Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach. Anal. Chem. · 2009
The cationic region of Rhes mediates its interactions with specific Gbeta subunits. Cell. Physiol. Biochem. · 2009
Ataxin 10 induces neuritogenesis via interaction with G-protein beta2 subunit. J. Neurosci. Res. · 2006
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. · 2004
Complete sequencing and characterization of 21,243 full-length human cDNAs. Nat. Genet. · 2004
… and 5 more in the literature graph

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