GNB2

GPTKB entity

Statements (51)
Predicate Object
gptkbp:instanceOf gptkb:gene
gptkbp:alias G beta 2
G protein beta subunit 2
gptkbp:alternativeSplicing yes
gptkbp:associatedWith signal transduction
congenital heart disease
neurodevelopmental disorder with hypotonia and seizures
gptkbp:component heterotrimeric G protein complex
heterotrimeric G-protein complex
gptkbp:encodes G protein subunit beta 2
gptkbp:Entrez_Gene_ID 2783
ENSG00000114388
gptkbp:expressedIn various tissues
gptkbp:fullName Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit beta-2
gptkbp:function GTPase activity
modulates G protein-coupled receptor signaling
gptkbp:GOProcess signal transduction
gptkbp:HGNC_ID 4393
https://www.w3.org/2000/01/rdf-schema#label GNB2
gptkbp:interactsWith gptkb:GNAS
GNAI1
GNAI2
GNAI3
GNAO1
GNG10
GNG13
GNG2
GNG3
GNG4
GNG5
GNG7
GNG8
GNGT1
GNGT2
gptkbp:length 340 amino acids
gptkbp:locatedOnChromosome 1p36.3
gptkbp:molecularWeight 37.4 kDa
gptkbp:mutationAssociatedWith neurodevelopmental disorder with hypotonia and seizures
gptkbp:OMIM 139390
gptkbp:organism gptkb:Homo_sapiens
gptkbp:orthologInMouse Gnb2
gptkbp:orthologInZebrafish gnb2
gptkbp:PDB 1TBG
gptkbp:product GNB2 protein
gptkbp:RefSeq NM_005273
gptkbp:subcellularLocation gptkb:cytoplasm
gptkb:plasma_membrane
gptkbp:UniProtID P62879
gptkbp:bfsParent gptkb:Familial_atrial_fibrillation
gptkb:Gβ_subunit
gptkbp:bfsLayer 7