Homo sapiens Gene: GHR
Summary
InnateDB Gene IDBG-18930.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol GHR
Gene Name growth hormone receptor
Synonyms GHBP;
Species Homo sapiens
Ensembl Gene ENSG00000112964
Encoded Proteins
growth hormone receptor
growth hormone receptor
growth hormone receptor
growth hormone receptor
growth hormone receptor
growth hormone receptor
growth hormone receptor
growth hormone receptor
growth hormone receptor
growth hormone receptor
growth hormone receptor
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 5:42423777-42721878
Strand Forward strand
Band p13.1
Transcripts
ENST00000230882 ENSP00000230882
ENST00000357703 ENSP00000350335
ENST00000513671 ENSP00000426739
ENST00000505006
ENST00000511135 ENSP00000422333
ENST00000513625
ENST00000537449 ENSP00000442206
ENST00000618088 ENSP00000482373
ENST00000615111 ENSP00000478291
ENST00000612626 ENSP00000479846
ENST00000622294 ENSP00000483926
ENST00000612382 ENSP00000478332
ENST00000620156 ENSP00000483403
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 57 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.
Experimentally validated
Total 57 [view]
Protein-Protein 57 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 3 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0004903 growth hormone receptor activity
GO:0005515 protein binding
GO:0017046 peptide hormone binding
GO:0019838 growth factor binding
GO:0019901 protein kinase binding
GO:0019903 protein phosphatase binding
GO:0042169 SH2 domain binding
GO:0042803 protein homodimerization activity
GO:0070064 proline-rich region binding
Biological Process
GO:0000187 activation of MAPK activity
GO:0000255 allantoin metabolic process
GO:0006101 citrate metabolic process
GO:0006103 2-oxoglutarate metabolic process
GO:0006105 succinate metabolic process
GO:0006107 oxaloacetate metabolic process
GO:0006549 isoleucine metabolic process
GO:0006573 valine metabolic process
GO:0006600 creatine metabolic process
GO:0006631 fatty acid metabolic process
GO:0006897 endocytosis
GO:0007259 JAK-STAT cascade
GO:0009725 response to hormone
GO:0009755 hormone-mediated signaling pathway
GO:0019221 cytokine-mediated signaling pathway
GO:0019530 taurine metabolic process
GO:0031623 receptor internalization
GO:0032094 response to food
GO:0032355 response to estradiol
GO:0032869 cellular response to insulin stimulus
GO:0032870 cellular response to hormone stimulus
GO:0034097 response to cytokine
GO:0040014 regulation of multicellular organism growth
GO:0040018 positive regulation of multicellular organism growth
GO:0042517 positive regulation of tyrosine phosphorylation of Stat3 protein
GO:0042523 positive regulation of tyrosine phosphorylation of Stat5 protein
GO:0042976 activation of Janus kinase activity
GO:0042977 activation of JAK2 kinase activity
GO:0043278 response to morphine
GO:0043434 response to peptide hormone
GO:0044236 multicellular organismal metabolic process
GO:0045597 positive regulation of cell differentiation
GO:0046427 positive regulation of JAK-STAT cascade
GO:0046449 creatinine metabolic process
GO:0046898 response to cycloheximide
GO:0048009 insulin-like growth factor receptor signaling pathway
GO:0050731 positive regulation of peptidyl-tyrosine phosphorylation
GO:0051384 response to glucocorticoid
GO:0060351 cartilage development involved in endochondral bone morphogenesis
GO:0060396 growth hormone receptor signaling pathway
GO:0060397 JAK-STAT cascade involved in growth hormone signaling pathway
GO:0070555 response to interleukin-1
GO:1901215 negative regulation of neuron death
Cellular Component
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0009986 cell surface
GO:0016021 integral component of membrane
GO:0019898 extrinsic component of membrane
GO:0043025 neuronal cell body
GO:0043235 receptor complex
GO:0070195 growth hormone receptor complex
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Cytokine Signaling in Immune system pathway
Signaling by ERBB4 pathway
Signal Transduction pathway
Prolactin receptor signaling pathway
Immune System pathway
Growth hormone receptor signaling pathway
Nuclear signaling by ERBB4 pathway
KEGG
Cytokine-cytokine receptor interaction pathway
Neuroactive ligand-receptor interaction pathway
Jak-STAT signaling pathway pathway
INOH
JAK STAT pathway and regulation pathway
Growth hormone signaling pathway
PID BIOCARTA
Trefoil factors initiate mucosal healing [Biocarta view]
Regulation of eif-4e and p70s6 kinase [Biocarta view]
Mtor signaling pathway [Biocarta view]
Growth hormone signaling pathway [Biocarta view]
Akt signaling pathway [Biocarta view]
PID NCI
Notch-mediated HES/HEY network
Cross-References
SwissProt
TrEMBL F5H7X2 Q9HCW9 Q9NRZ8
UniProt Splice Variant
Entrez Gene 2690
UniGene Hs.125180 Hs.714143
RefSeq NM_001242405 NM_000163 NM_001242399 NM_001242400 NM_001242401 NM_001242402 NM_001242403 NM_001242404 NM_001242406 NM_001242460 NM_001242462 XM_005248288
HUGO HGNC:4263
OMIM 600946
CCDS CCDS3940 CCDS56364 CCDS75240 CCDS75239
HPRD 02971
IMGT
EMBL AC093225 AC113368 AC114941 AC116343 AF155912 AJ278681 AJ295613 M28458 M28459 M28460 M28461 M28462 M28463 M28464 M28465 M28466 X06562
GenPept AAA52555 AAF71399 CAA29808 CAC06613 CAC06615
RNA Seq Atlas 2690