Statements (22)
Predicate | Object |
---|---|
gptkbp:instanceOf |
gptkb:gene
|
gptkbp:alternativeSplicing |
yes
|
gptkbp:associatedWith |
gptkb:Laron_syndrome
growth hormone insensitivity |
gptkbp:encodes |
gptkb:growth_hormone_receptor
|
gptkbp:Entrez_Gene_ID |
2690
|
gptkbp:expressedIn |
gptkb:skeletal_muscle
liver adipose tissue |
gptkbp:fullName |
gptkb:growth_hormone_receptor
|
gptkbp:function |
mediates the effects of growth hormone
|
gptkbp:HGNC_ID |
4263
|
https://www.w3.org/2000/01/rdf-schema#label |
GHR
|
gptkbp:locatedOnChromosome |
5p13.1-p12
|
gptkbp:mutationAssociatedWith |
can cause growth hormone insensitivity
|
gptkbp:OMIM |
600946
|
gptkbp:orthologInMouse |
Ghr
|
gptkbp:proteinFamily |
cytokine receptor family
|
gptkbp:symbol |
gptkb:GHR
|
gptkbp:UniProtID |
P10912
|
gptkbp:bfsParent |
gptkb:chromosome_7
|
gptkbp:bfsLayer |
6
|