|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
GH receptor
GHBP
growth hormone binding protein
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:cancer
dwarfism
acromegaly
|
|
gptkbp:biologicalProcess
|
growth regulation
hormone binding
|
|
gptkbp:cellularComponent
|
gptkb:plasma_membrane
|
|
gptkbp:clinicalTrialPhase
|
yes
|
|
gptkbp:discoveredBy
|
Rosenfeld et al.
|
|
gptkbp:encodes
|
gptkb:growth_hormone_receptor
|
|
gptkbp:Entrez_Gene_ID
|
2690
ENSG00000112972
|
|
gptkbp:expressedIn
|
gptkb:skeletal_muscle
liver
adipose tissue
|
|
gptkbp:fullName
|
growth hormone receptor gene
|
|
gptkbp:function
|
mediates the effects of growth hormone
|
|
gptkbp:HGNC_ID
|
4263
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
GHR gene
|
|
gptkbp:interactsWith
|
gptkb:JAK2
gptkb:STAT5
recombinant human growth hormone
|
|
gptkbp:length
|
638 amino acids
~87 kb
|
|
gptkbp:locatedOnChromosome
|
gptkb:chromosome_5
5p13.1-p12
|
|
gptkbp:mutationAssociatedWith
|
gptkb:Laron_syndrome
growth hormone insensitivity
|
|
gptkbp:numberOfExons
|
10
|
|
gptkbp:OMIM
|
600946
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologInMouse
|
Ghr
|
|
gptkbp:postTranslationalModification
|
phosphorylation
glycosylation
|
|
gptkbp:product
|
gptkb:growth_hormone_receptor
|
|
gptkbp:proteinFamily
|
type I cytokine receptor family
|
|
gptkbp:recipient
|
cytokine receptor family
|
|
gptkbp:referenceGenome
|
gptkb:GRCh38
|
|
gptkbp:regulates
|
regulated by growth hormone levels
|
|
gptkbp:transmembraneDomains
|
yes
|
|
gptkbp:type
|
gptkb:JAK-STAT_pathway
|
|
gptkbp:UniProtID
|
P10912
|
|
gptkbp:bfsParent
|
gptkb:growth_hormone_receptor
|
|
gptkbp:bfsLayer
|
7
|