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 |
|---|---|---|---|---|---|
| growth hormone receptor | MIM:600946 | Ensembl:ENSG00000112964 | HGNC:HGNC:4263 | PA28674 | 5p13.1-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 |
| BP | ISS | GO:0006549 | isoleucine metabolic process |
| BP | ISS | GO:0006573 | valine metabolic process |
| BP | ISS | GO:0006600 | creatine metabolic process |
| BP | ISS | GO:0006631 | fatty acid metabolic process |
| BP | IEA | GO:0006897 | endocytosis |
| BP | ISS | GO:0007259 | JAK-STAT cascade |
| BP | IEA | GO:0019221 | cytokine-mediated signaling pathway |
| BP | ISS | GO:0019530 | taurine metabolic process |
| BP | IMP | GO:0032870 | cellular response to hormone stimulus |
| BP | ISS | GO:0040014 | regulation of multicellular organism growth |
| BP | IMP | GO:0040018 | positive regulation of multicellular organism growth |
| BP | IMP | GO:0042445 | hormone metabolic process |
| BP | ISS | GO:0042531 | positive regulation of tyrosine phosphorylation of STAT protein |
| BP | ISS | GO:0042976 | activation of Janus kinase activity |
| BP | IBA | GO:0046427 | positive regulation of JAK-STAT cascade |
| BP | ISS | GO:0046449 | creatinine metabolic process |
| BP | IMP | GO:0048009 | insulin-like growth factor receptor signaling pathway |
| BP | IBA | GO:0050731 | positive regulation of peptidyl-tyrosine phosphorylation |
| BP | ISS | GO:0050731 | positive regulation of peptidyl-tyrosine phosphorylation |
| BP | IBA | GO:0060396 | growth hormone receptor signaling pathway |
| BP | IMP | GO:0060396 | growth hormone receptor signaling pathway |
| BP | TAS | GO:0060397 | JAK-STAT cascade involved in growth hormone signaling pathway |
| CC | TAS | GO:0005576 | extracellular region |
| CC | IDA | GO:0005615 | extracellular space |
| CC | IMP | GO:0005615 | extracellular space |
| CC | IBA | GO:0005829 | cytosol |
| CC | IDA | GO:0005829 | cytosol |
| CC | IDA | GO:0005886 | plasma membrane |
| CC | TAS | GO:0005886 | plasma membrane |
| CC | IDA | GO:0005887 | integral component of plasma membrane |
| CC | IBA | GO:0009897 | external side of plasma membrane |
| CC | IDA | GO:0009986 | cell surface |
| CC | IDA | GO:0016021 | integral component of membrane |
| CC | IDA | GO:0036464 | cytoplasmic ribonucleoprotein granule |
| CC | IBA | GO:0043235 | receptor complex |
| CC | IDA | GO:0043235 | receptor complex |
| CC | IBA | GO:0070195 | growth hormone receptor complex |
| CC | IDA | GO:0070195 | growth hormone receptor complex |
| MF | IBA | GO:0004896 | cytokine receptor activity |
| MF | IEA | GO:0004896 | cytokine receptor activity |
| MF | IBA | GO:0004903 | growth hormone receptor activity |
| MF | IPI | GO:0005515 | protein binding |
| MF | IBA | GO:0017046 | peptide hormone binding |
| MF | IPI | GO:0017046 | peptide hormone binding |
| MF | IBA | GO:0019838 | growth factor binding |
| MF | ISS | GO:0019901 | protein kinase binding |
| MF | IBA | GO:0019955 | cytokine binding |
| MF | IPI | GO:0042802 | identical protein binding |
| MF | IDA | GO:0042803 | protein homodimerization activity |
| MF | ISS | GO:0070064 | proline-rich region binding |
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 |
| reactome | R-HSA-982772 | Growth hormone receptor signaling |
| biocarta | aktpathway | akt signaling pathway |
| biocarta | eif4pathway | regulation of eif-4e and p70s6 kinase |
| biocarta | ghpathway | growth hormone signaling pathway |
| biocarta | mtorpathway | mtor signaling pathway |
| biocarta | tffpathway | trefoil factors initiate mucosal healing |
| pid | hes_heypathway | Notch-mediated HES/HEY network |
| kegg | hsa04060 | Cytokine-cytokine receptor interaction - Homo sapiens (human) |
| kegg | hsa04080 | Neuroactive ligand-receptor interaction - Homo sapiens (human) |
| kegg | hsa04151 | PI3K-Akt signaling pathway - Homo sapiens (human) |
| kegg | hsa04630 | Jak-STAT signaling pathway - Homo sapiens (human) |
| wikipathways | WP2593 | JAK-STAT |
| wikipathways | WP3932 | Focal Adhesion-PI3K-Akt-mTOR-signaling pathway |
| wikipathways | WP4172 | PI3K-Akt Signaling Pathway |
| wikipathways | WP474 | Endochondral Ossification |
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD300 | Tozasertib | 4 |
| iGMDRD367 | Ro 28-1675 | 5 |
| iGMDRD414 | MST-312 | 1 |
| iGMDRD269 | Purmorphamine | 1 |
| iGMDRD329 | Merck60 | 4 |
| iGMDRD434 | BMS-536924 | 4 |
| iGMDRD289 | Parthenolide | 3 |
| iGMDRD267 | Oligomycin A | 3 |
| iGMDRD213 | SMR000068650 | 4 |
| iGMDRD103 | SN-38 | 3 |
| iGMDRD132 | (-)-gallocatechin-3-O-gallate | 2 |
| iGMDRD945 | ML214 | 3 |
| iGMDRD351 | GW843682X | 1 |
| iGMDRD560 | MK-2206 | 6 |
| iGMDRD248 | BRD4354 | 2 |
| iGMDRD60 | Quinoclamine | 5 |
| iGMDRD690 | PRIMA-1MET | 2 |
| iGMDRD268 | Cerulenin | 3 |
| iGMDRD23 | Gossypol | 5 |
| iGMDRD399 | Selumetinib | 3 |
| iGMDRD887 | Compound 23 citrate | 6 |
| iGMDRD188 | Piperlongumine | 2 |
| iGMDRD780 | PP-30 | 1 |
| iGMDRD562 | Navitoclax | 7 |
| iGMDRD398 | Sepantronium | 4 |
| iGMDRD224 | Necrostatin-1 | 2 |
| iGMDRD506 | Fedratinib | 5 |
| iGMDRD52 | Rotenone | 2 |
| iGMDRD441 | TW 37 | 2 |
| iGMDRD801 | 2,4-dideoxy-DC-45-A2 | 2 |
| iGMDRD474 | Avrainvillamide | 6 |
| iGMDRD247 | Blebbistatin | 2 |
| iGMDRD270 | Ciclosporin | 3 |
| iGMDRD255 | SB225002 | 2 |
| iGMDRD802 | 4-methylfasudil | 5 |
| iGMDRD466 | Chaetocin | 3 |
| iGMDRD297 | Austocystin D | 3 |
| iGMDRD380 | Pifithrin-alpha | 5 |
| iGMDRD375 | GW-405833 | 6 |
| iGMDRD201 | SKI II | 3 |
| iGMDRD152 | 179324-69-7 | 1 |
| iGMDRD61 | Kinetin riboside | 3 |
| iGMDRD316 | N9-Isopropyl-olomoucine | 3 |
| iGMDRD427 | ABT737 | 9 |
| iGMDRD144 | NSC95397 | 1 |
| iGMDRD546 | BMS-754807 | 4 |
| iGMDRD781 | Sirolimus | 3 |
| iGMDRD494 | Neopeltolide | 3 |
| iGMDRD420 | Leucascandrolide A | 3 |
| iGMDRD579 | PF750 | 5 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in GHR
CLASSFICATION
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