Gene Symbol

GHR

Aliases

GHBP, GHIP

Entrez Gene ID

2690

Gene Name

Growth hormone receptor

Chromosomal Location

5p13.1-p12

HGNC ID

4263

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]

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

P10912

PDB

1A22, 1AXI, 1HWG, 1HWH, 1KF9, 2AEW, 3HHR, 5OEK, 5OHD