GHR

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]

Description

Growth hormone receptor

Tissue specificity

Tissue enhanced (adipose tissue, liver)

Subcell location

Plasma membrane, Cytosol, Cytoplasmic bodies

Predicted location

Membrane, Secreted to blood

Protein family

Disease related genes
FDA approved drug targets
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted membrane proteins
Predicted secreted proteins
Protein evidence (Ezkurdia et al 2014)

Chromosome

5 (42423439 - 42721878)

Ensembl ID

ENSG00000112964  (ver. 103.38)

Orthologs

Mouse Ghr: ENSMUSG00000055737

UniProt

P10912

neXtProt

NX_P10912

Human splice variants
Mouse splice variants

Protein structure