|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
gptkb:GNAS1
gptkb:GNAS_complex_locus
Guanine nucleotide-binding protein G(s) subunit alpha isoforms short
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:McCune-Albright_syndrome
gptkb:progressive_osseous_heteroplasia
gptkb:Albright_hereditary_osteodystrophy
pseudohypoparathyroidism
pituitary tumors
thyroid adenoma
|
|
gptkbp:biologicalProcess
|
signal transduction
GTP binding
GTPase activity
regulation of hormone secretion
cellular response to hormone stimulus
|
|
gptkbp:clinicalTrialPhase
|
available
|
|
gptkbp:discoveredIn
|
1980s
|
|
gptkbp:encodes
|
gptkb:Guanine_nucleotide-binding_protein_G(s)_subunit_alpha
|
|
gptkbp:Entrez_Gene_ID
|
2778
rs7121
|
|
gptkbp:expressedIn
|
multiple tissues
|
|
gptkbp:function
|
signal transduction
G protein-coupled receptor signaling pathway
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:hasTranscriptVariant
|
multiple
|
|
gptkbp:HGNC_ID
|
4392
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
GNAS gene
|
|
gptkbp:imprint
|
yes
maternal and paternal alleles have different expression
|
|
gptkbp:length
|
13 exons
|
|
gptkbp:locatedOnChromosome
|
chromosome 20
20q13.32
|
|
gptkbp:mutationAssociatedWith
|
nonsense
deletion
missense
duplication
|
|
gptkbp:OMIM
|
139320
|
|
gptkbp:orthologInMouse
|
gptkb:Gnas
|
|
gptkbp:pathway
|
gptkb:cAMP_signaling_pathway
GPCR signaling pathway
|
|
gptkbp:product
|
Gs alpha
|
|
gptkbp:referenceGenome
|
gptkb:GRCh38
|
|
gptkbp:regulates
|
adenylate cyclase activity
|
|
gptkbp:subcellularLocation
|
gptkb:cell_membrane
gptkb:nucleus
gptkb:cytoplasm
|
|
gptkbp:UniProtID
|
P63092
|
|
gptkbp:bfsParent
|
gptkb:Albright_hereditary_osteodystrophy
gptkb:Gs_protein
|
|
gptkbp:bfsLayer
|
6
|