Functions and Diseases

RBP Type Non-canonical_RBPs
Diseases Disease
Drug Drug
Main interacting RNAs N.A.
Moonlighting functions N.A.
Localizations N.A.
BulkPerturb-seq

Description

Ensembl ID ENSG00000112964 Gene ID 2690 Accession 4263
Symbol GHR Alias GHBP;GHIP Full Name growth hormone receptor
Status Confidence Length 298440 bases Strand Plus strand
Position 5 : 42423439 - 42721878 RNA binding domain N.A.
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]

RNA binding domains (RBDs)

Protein Domain Pfam ID E-value Domain number

RNA binding proteomes (RBPomes)

Pubmed ID Full Name Cell Author Time Doi

Literatures on RNA binding capacity

Pubmed ID Title Author Time Journal
29748515 Growth Hormone Receptor Mutations Related to Individual Dwarfism. Shudai Lin 2018-05-10 International journal of molecular sciences
9255228 The spectrum of growth-hormone insensitivity. S J Parks 1997-07-01 The Journal of pediatrics

Transcripts

Name Transcript ID bp Protein Translation ID
GHR-201 ENST00000230882 4899 638aa ENSP00000230882
GHR-206 ENST00000513671 566 62aa ENSP00000426739
GHR-203 ENST00000505006 615 No protein -
GHR-204 ENST00000511135 2173 85aa ENSP00000422333
GHR-205 ENST00000513625 782 No protein -
GHR-210 ENST00000615111 4814 638aa ENSP00000478291
GHR-211 ENST00000618088 4491 638aa ENSP00000482373
GHR-202 ENST00000357703 4316 616aa ENSP00000350335
GHR-207 ENST00000537449 4419 638aa ENSP00000442206
GHR-208 ENST00000612382 4699 638aa ENSP00000478332
GHR-213 ENST00000622294 4312 295aa ENSP00000483926
GHR-212 ENST00000620156 4529 645aa ENSP00000483403
GHR-209 ENST00000612626 4524 638aa ENSP00000479846

Gene Model

Pathways

Pathway ID Pathway Name Source

Phenotypes

ensgID Trait pValue Pubmed ID
39312Platelet Function Tests1.9058300E-005-
39333Platelet Function Tests2.0500000E-006-
39336Platelet Function Tests3.1700000E-006-
40030Platelet Function Tests3.9408900E-005-
40032Platelet Function Tests2.5420300E-005-
64935Body Height8E-625429064
98760Iron8E-619084217

GWAS

ensgIDSNPChromosomePosition TraitPubmedIDOr or BEAT EFO ID

Protein-Protein Interaction (PPI)

Paralogs

Ensembl ID Source Target
Species Protein ID Perc_pos Perc_id Species Protein ID Perc_pos Perc_id

Orthologs

Ensembl ID Source Target
Species Protein ID Perc_pos Perc_id Species Protein ID Perc_pos Perc_id

Gene Ontology

Go ID Go term No. evidence Entries Species Category
GO:0004903enables growth hormone receptor activity1IBAHomo_sapiens(9606)Function
GO:0005515enables protein binding1IPIHomo_sapiens(9606)Function
GO:0005576located_in extracellular region1TASHomo_sapiens(9606)Component
GO:0005615located_in extracellular space2IDA,IMPHomo_sapiens(9606)Component
GO:0005829is_active_in cytosol2IBA,IDAHomo_sapiens(9606)Component
GO:0005886located_in plasma membrane2IDA,TASHomo_sapiens(9606)Component
GO:0006897involved_in endocytosis1IEAHomo_sapiens(9606)Process
GO:0007259involved_in receptor signaling pathway via JAK-STAT1ISSHomo_sapiens(9606)Process
GO:0008289enables lipid binding1EXPHomo_sapiens(9606)Function
GO:0009629involved_in response to gravity1IEAHomo_sapiens(9606)Process
GO:0009755involved_in hormone-mediated signaling pathway1IEAHomo_sapiens(9606)Process
GO:0009897is_active_in external side of plasma membrane1IBAHomo_sapiens(9606)Component
GO:0009986located_in cell surface1IDAHomo_sapiens(9606)Component
GO:0016020located_in membrane1IDAHomo_sapiens(9606)Component
GO:0017046enables peptide hormone binding2IBA,IPIHomo_sapiens(9606)Function
GO:0019221involved_in cytokine-mediated signaling pathway1IBAHomo_sapiens(9606)Process
GO:0019530acts_upstream_of_positive_effect taurine metabolic process1ISSHomo_sapiens(9606)Process
GO:0019838enables growth factor binding1IBAHomo_sapiens(9606)Function
GO:0019901enables protein kinase binding1ISSHomo_sapiens(9606)Function
GO:0019903enables protein phosphatase binding1IEAHomo_sapiens(9606)Function
GO:0019955enables cytokine binding1IBAHomo_sapiens(9606)Function
GO:0032094involved_in response to food1IEAHomo_sapiens(9606)Process
GO:0032869involved_in cellular response to insulin stimulus1IEAHomo_sapiens(9606)Process
GO:0032870involved_in cellular response to hormone stimulus1IMPHomo_sapiens(9606)Process
GO:0036464located_in cytoplasmic ribonucleoprotein granule1IDAHomo_sapiens(9606)Component
GO:0040014involved_in regulation of multicellular organism growth1ISSHomo_sapiens(9606)Process
GO:0040018involved_in positive regulation of multicellular organism growth1IMPHomo_sapiens(9606)Process
GO:0042169enables SH2 domain binding1IEAHomo_sapiens(9606)Function
GO:0042445involved_in hormone metabolic process1IMPHomo_sapiens(9606)Process
GO:0042531involved_in positive regulation of tyrosine phosphorylation of STAT protein1ISSHomo_sapiens(9606)Process
GO:0042802enables identical protein binding1IPIHomo_sapiens(9606)Function
GO:0042803enables protein homodimerization activity1IDAHomo_sapiens(9606)Function
GO:0042976involved_in activation of Janus kinase activity1IEAHomo_sapiens(9606)Process
GO:0043025located_in neuronal cell body1IEAHomo_sapiens(9606)Component
GO:0043235part_of receptor complex1IDAHomo_sapiens(9606)Component
GO:0043406acts_upstream_of positive regulation of MAP kinase activity1ISSHomo_sapiens(9606)Process
GO:0045597involved_in positive regulation of cell differentiation1IEAHomo_sapiens(9606)Process
GO:0046427involved_in positive regulation of receptor signaling pathway via JAK-STAT1IBAHomo_sapiens(9606)Process
GO:0048009involved_in insulin-like growth factor receptor signaling pathway1IMPHomo_sapiens(9606)Process
GO:0050731involved_in positive regulation of peptidyl-tyrosine phosphorylation2IBA,ISSHomo_sapiens(9606)Process
GO:0051384involved_in response to glucocorticoid1IEAHomo_sapiens(9606)Process
GO:0060351involved_in cartilage development involved in endochondral bone morphogenesis1IEAHomo_sapiens(9606)Process
GO:0060396involved_in growth hormone receptor signaling pathway2IBA,IMPHomo_sapiens(9606)Process
GO:0070064enables proline-rich region binding1ISSHomo_sapiens(9606)Function
GO:0070195part_of growth hormone receptor complex2IBA,IDAHomo_sapiens(9606)Component
GO:0070555involved_in response to interleukin-11IEAHomo_sapiens(9606)Process
GO:1901215involved_in negative regulation of neuron death1IEAHomo_sapiens(9606)Process

Expression