• Gene id: 2690

Gene Summary

• Gene Symbol: GHR   Gene   UCSC   Ensembl
• Aliases: GHBP, GHIP
• Gene name: growth hormone receptor
• Alternate names: growth hormone receptor, GH receptor, growth hormone binding protein, serum binding protein, somatotropin receptor,
• Gene location: 5p13.1-p12 (42423438: 42721877)     Exons: 18     NC_000005.10
• Gene summary(Entrez): 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 tran
• OMIM: 600946

Protein Summary

• Protein general information: P10912  
  • Name: Growth hormone receptor (GH receptor) (Somatotropin receptor) [Cleaved into: Growth hormone binding protein (GH binding protein) (GHBP) (Serum binding protein)]
  • Length: 638  
  • Mass: 71500
  • Tissue specificity: Expressed in various tissues with high expression in liver and skeletal muscle. Isoform 4 is predominantly expressed in kidney, bladder, adrenal gland and brain stem. Isoform 1 expression in placenta is predominant in chorion and decid
• Sequence:

  MDLWQLLLTLALAGSSDAFSGSEATAAILSRAPWSLQSVNPGLKTNSSKEPKFTKCRSPERETFSCHWTDEVHHG
  TKNLGPIQLFYTRRNTQEWTQEWKECPDYVSAGENSCYFNSSFTSIWIPYCIKLTSNGGTVDEKCFSVDEIVQPD
  PPIALNWTLLNVSLTGIHADIQVRWEAPRNADIQKGWMVLEYELQYKEVNETKWKMMDPILTTSVPVYSLKVDKE
  YEVRVRSKQRNSGNYGEFSEVLYVTLPQMSQFTCEEDFYFPWLLIIIFGIFGLTVMLFVFLFSKQQRIKMLILPP
  VPVPKIKGIDPDLLKEGKLEEVNTILAIHDSYKPEFHSDDSWVEFIELDIDEPDEKTEESDTDRLLSSDHEKSHS
  NLGVKDGDSGRTSCCEPDILETDFNANDIHEGTSEVAQPQRLKGEADLLCLDQKNQNNSPYHDACPATQQPSVIQ
  AEKNKPQPLPTEGAESTHQAAHIQLSNPSSLSNIDFYAQVSDITPAGSVVLSPGQKNKAGMSQCDMHPEMVSLCQ
  ENFLMDNAYFCEADAKKCIPVAPHIKVESHIQPSLNQEDIYITTESLTTAAGRPGTGEHVPGSEMPVPDYTSIHI
  VQSPQGLILNATALPLPDKEFLSSCGYVSTDQLNKIMP

• Structural information:
  • Protein Domains: (151..25-)
    (/note="Fibronectin-type-III)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00316"-)
  • Interpro: IPR003961  IPR036116  IPR025871  IPR015152  IPR013783   IPR003528  
  • Prosite: PS50853 PS01352
  • CDD: cd00063
  • PDB: 1A22 1AXI 1HWG 1HWH 1KF9 2AEW 3HHR 5OEK 5OHD
  • PDBsum: 1A22 1AXI 1HWG 1HWH 1KF9 2AEW 3HHR 5OEK 5OHD
  • DIP: 630
  • STRING: ENSP00000483403
• Other Databases: GeneCards:  GHR  Malacards:  GHR

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0070195	growth hormone receptor complex	IBA	cellular component
GO:0046427	positive regulation of receptor signaling pathway via JAK-STAT	IBA	biological process
GO:0019838	growth factor binding	IBA	molecular function
GO:0009897	external side of plasma membrane	IBA	cellular component
GO:0004896	cytokine receptor activity	IBA	molecular function
GO:0060396	growth hormone receptor signaling pathway	IBA	biological process
GO:0050731	positive regulation of peptidyl-tyrosine phosphorylation	IBA	biological process
GO:0043235	receptor complex	IBA	cellular component
GO:0019955	cytokine binding	IBA	molecular function
GO:0019221	cytokine-mediated signaling pathway	IBA	biological process
GO:0017046	peptide hormone binding	IBA	molecular function
GO:0005829	cytosol	IBA	cellular component
GO:0004903	growth hormone receptor activity	IBA	molecular function
GO:0004896	cytokine receptor activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0006897	endocytosis	IEA	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0060397	growth hormone receptor signaling pathway via JAK-STAT	TAS	biological process
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0017046	peptide hormone binding	IPI	molecular function
GO:0017046	peptide hormone binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0019901	protein kinase binding	ISS	molecular function
GO:0070064	proline-rich region binding	ISS	molecular function
GO:0005615	extracellular space	IDA	cellular component
GO:0043235	receptor complex	IDA	cellular component
GO:0000187	activation of MAPK activity	ISS	biological process
GO:0005615	extracellular space	IMP	cellular component
GO:0007259	receptor signaling pathway via JAK-STAT	ISS	biological process
GO:0019530	taurine metabolic process	ISS	biological process positive effect
GO:0040014	regulation of multicellular organism growth	ISS	biological process
GO:0040018	positive regulation of multicellular organism growth	IMP	biological process
GO:0042976	activation of Janus kinase activity	ISS	biological process
GO:0048009	insulin-like growth factor receptor signaling pathway	IMP	biological process
GO:0050731	positive regulation of peptidyl-tyrosine phosphorylation	ISS	biological process
GO:0060396	growth hormone receptor signaling pathway	IMP	biological process
GO:0005887	integral component of plasma membrane	IDA	cellular component
GO:0009986	cell surface	IDA	cellular component
GO:0016021	integral component of membrane	IDA	cellular component
GO:0070195	growth hormone receptor complex	IDA	cellular component
GO:0032870	cellular response to hormone stimulus	IMP	biological process
GO:0042531	positive regulation of tyrosine phosphorylation of STAT protein	ISS	biological process
GO:0042445	hormone metabolic process	IMP	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0036464	cytoplasmic ribonucleoprotein granule	IDA	cellular component
GO:0017046	peptide hormone binding	IPI	molecular function
GO:0017046	peptide hormone binding	IPI	molecular function
GO:0070195	growth hormone receptor complex	IDA	cellular component
GO:0070195	growth hormone receptor complex	IDA	cellular component
GO:0070195	growth hormone receptor complex	IDA	cellular component
GO:0042803	protein homodimerization activity	IDA	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04080	Neuroactive ligand-receptor interaction
hsa04151	PI3K-Akt signaling pathway
hsa04060	Cytokine-cytokine receptor interaction
hsa04630	JAK-STAT signaling pathway
hsa04935	Growth hormone synthesis, secretion and action

Diseases

Associated diseases	References
Growth hormone deficiency	KEGG:H00254
Laron syndrome	KEGG:H02037
Growth hormone deficiency	KEGG:H00254
Laron syndrome	KEGG:H02037
Isolated growth hormone deficiency	PMID:2813379
Breast cancer	PMID:17287408
Colonic disease	PMID:19864451
Osteoarthritis	PMID:23740230
type 2 diabetes mellitus	PMID:17537658
Laron syndrome	PMID:25196842
Laron syndrome	PMID:25196842
Laron syndrome	PMID:9024232
type 1 diabetes mellitus	PMID:12054124
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray