GHR

Gene Information
 
Gene Symbol
GHR
 
Aliases
GHBP, GHIP
 
Entrez Gene ID
 
Gene Name
Growth hormone receptor
 
Chromosomal Location
5p14-p12
 
HGNC ID
 
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.
 
GeneCards ID
 
UniGene
 
RefSeq DNA
 
RefSeq mRNA
  e!Ensembl
Gene
Transcript  
Protein

Gene Ontology (GO)

GO ID Ontology Definition Evidence Reference
GO:0031623 Biological process Receptor internalization IDA 9360546
GO:0032355 Biological process Response to estradiol stimulus IDA 12552091
GO:0032870 Biological process Cellular response to hormone stimulus IMP 7565946
GO:0040018 Biological process Positive regulation of multicellular organism growth IMP 2813379
GO:0042517 Biological process Positive regulation of tyrosine phosphorylation of Stat3 protein ISS 2825030
Protein Information
 
Protein Name
Somatotropin receptor , serum binding protein , Somatotropin receptor , growth hormone receptor , GHBP , GH receptor , growth hormone binding protein , OTTHUMP00000120020
 
Function
Receptor for pituitary gland growth hormone involved in regulating postnatal body growth. On ligand binding, couples to the JAK2/STAT5 pathway (By similarity)| The soluble form (GHBP) acts as a reservoir of growth hormone in plasma and may be a modulator/inhibitor of GH signaling| Isoform 2 up-regulates the production of GHBP and acts as a negative inhibitor of GH signaling
 
Refseq Proteins
 
UniProt
 
PDB
 
InterPro
 
Pfam
Pfam Accession Pfam ID
PF00041 fn3 Fibronectin type III domain
PF09067 EpoR_lig-bind Erythropoietin receptor, ligand binding
PF12772 GHBP Growth hormone receptor binding
 
KEGG
 
OMIM
 
Phenotype MIM ID
 
Interactions

Associated Diseases

Diseases References
Acromegaly 12201832, 12372843, 10193608, 19850678, 1292973, 11940041, 14557452, 18058736, 10909433, 10770982, 17359735, 18766168, 15500374, 19336510, 19089622, 15497659, 11734231, 8496320, 16046586, 12213898, 17218728, 15497660, 12423627, 11443156, 20003832, 16613824, 7752917, 11297608, 11581004, 10984267, 10720017, 8016162, 16498061, 15711909, 15301564, 14671148, 11527081, 16061824, 15865883, 12864793, 15799207, 11595543, 20206782, 19439509, 18611977, 17047393, 19773369, 19109045, 16269873, 1483295, 19965922, 19818658, 19153502, 17534717, 16452533, 14700556, 10443687, 18611972, 18163211, 18174713, 17105844, 16728538, 15585549, 12812311, 11527090, 8432772, 17429592, 16444181, 17047379, 16908925, 12477295, 11694248, 9037128, 19864451, 19758960, 19407498, 17341562, 16780450, 7534176, 15356058, 17573420, 15762186, 12876416, 7673403, 11932303
Actinic keratosis 12756585, 14757281
Cancer (adenoma) 12919156, 15104560, 17764692, 15891957, 7534993, 15104560, 16840917, 17427111, 16036872, 12919156, 15891957
Cancer (carcinoma) 12431808, 15196705, 16121806, 9389738
Diabetes mellitus 7955462, 9635292, 10720053, 9177400, 16825291, 18766168
   
References
 
Primary:

Evaluation of the association between GHR exon 3 polymorphism and polycystic ovary syndrome among Han Chinese women.

Shen Yun, Wang Laicheng, Zhao Yueran, You Li, Geng Ling, Gu Harvest F, Chen Zi-Jiang
Central laboratory, Provincial Hospital Affiliated to Shandong University, Jinan, People's Republic of China.
Growth Horm IGF Res. 2011 Oct;21(5):248-51. doi: 10.1016/j.ghir.2011.07.002. Epub
 
Supporting Literature:
PubMed ID Associated gene/s Associated condition Genetic Mutation Diagnostic Criteria Association with PCOS Ethnicity Conclusion
 
Glucose metabolism 
GHR exon 3 polymorphism-GHRd3 allele 
 
Related 
Han Chinese-432 PCOS and 441 controls 
The present study provides the first evidence that GHR exon 3 polymorphism is associated with PCOS in Han Chinese women. The GHRd3 allele may contribute to an impact of glucose metabolism but not insulin resistance. 

 

| © 2015, Biomedical Informatics Centre, NIRRH |
National Institute for Research in Reproductive Health, Jehangir Merwanji Street, Parel, Mumbai-400 012
Tel: 91-22-24192104, Fax No: 91-22-24139412