GHR


Summary: This gene encodes a member of the type I cytokine receptor family, which is a transmembrane receptor for growth hormone. Binding of growth hormone to the receptor leads to receptor dimerization and the activation of an intra- and intercellular signal transduction pathway leading to growth. Mutations in this gene have been associated with Laron syndrome, also known as the growth hormone insensitivity syndrome (GHIS), a disorder characterized by short stature. In humans and rabbits, but not rodents, growth hormone binding protein (GHBP) is generated by proteolytic cleavage of the extracellular ligand-binding domain from the mature growth hormone receptor protein. Multiple alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Jun 2011].

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Name
OMIM ID
Ensembl ID
HGNC ID
PHARMGKB ID
Map Location
OMIM IDMIM:600946
PHARMGKB IDPA28674
Map Location5p13.1-p12

GO terms in GHR


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Term Type
Evidence Type
GO Term ID
GO Des.
BP ISS GO:0000187 activation of MAPK activity
BP ISS GO:0000255 allantoin metabolic process
BP ISS GO:0006101 citrate metabolic process
BP ISS GO:0006103 2-oxoglutarate metabolic process
BP ISS GO:0006105 succinate metabolic process
BP ISS GO:0006107 oxaloacetate metabolic process
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Gene expression in normal tissue: GHR

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in GHR


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Database
Pathway ID
Pathway Des.
reactome R-HSA-1170546 Prolactin receptor signaling
reactome R-HSA-1280215 Cytokine Signaling in Immune system
reactome R-HSA-1280215 Cytokine Signaling in Immune system
reactome R-HSA-168256 Immune System
reactome R-HSA-168256 Immune System
reactome R-HSA-982772 Growth hormone receptor signaling
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Gene-Drug: Aster Plot


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Drug ID
Drug Name
Model Num.
iGMDRD300 Tozasertib 4
iGMDRD367 Ro 28-1675 5
iGMDRD414 MST-312 1
iGMDRD269 Purmorphamine 1
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Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in GHR

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Model
Level
Reference ID
Tissue
Cancer
Drug
Clinical Response
Source
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