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].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:600946 Ensembl IDEnsembl:ENSG00000112964 HGNC IDHGNC:HGNC:4263 PHARMGKB IDPA28674 Map Location5p13.1-p12 | |||||
GO terms in GHR
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 |
Gene expression in normal tissue: GHR
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in GHR
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 |
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in GHR
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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