|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
G beta 2
G protein beta subunit 2
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:congenital_heart_disease
signal transduction
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
|
|
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
|
|
gptkbp:bfsLayer
|
7
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
GNB2
|