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Aliases for GHR Gene

Aliases for GHR Gene

  • Growth Hormone Receptor 2 3
  • Growth Hormone Binding Protein 2 3
  • Somatotropin Receptor 3 4
  • GH Receptor 3 4
  • Serum Binding Protein 3
  • GHBP 3
  • GHIP 3

External Ids for GHR Gene

Previous GeneCards Identifiers for GHR Gene

  • GC05P042872
  • GC05P043600
  • GC05P042424
  • GC05P042469
  • GC05P042459

Summaries for GHR Gene

Entrez Gene Summary for GHR Gene

  • 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]

GeneCards Summary for GHR Gene

GHR (Growth Hormone Receptor) is a Protein Coding gene. Diseases associated with GHR include laron dwarfism and increased responsiveness to growth hormone (3) growth hormone insensitivity, partial. Among its related pathways are PI3K-Akt signaling pathway and PI-3K cascade. GO annotations related to this gene include protein homodimerization activity and protein phosphatase binding. An important paralog of this gene is CRLF1.

UniProtKB/Swiss-Prot for GHR Gene

  • 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

Gene Wiki entry for GHR Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GHR Gene

Genomics for GHR Gene

Regulatory Elements for GHR Gene

Genomic Location for GHR Gene

Start:
42,423,475 bp from pter
End:
42,721,878 bp from pter
Size:
298,404 bases
Orientation:
Plus strand

Genomic View for GHR Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for GHR Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GHR Gene

Proteins for GHR Gene

  • Protein details for GHR Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P10912-GHR_HUMAN
    Recommended name:
    Growth hormone receptor
    Protein Accession:
    P10912
    Secondary Accessions:
    • Q9HCX2

    Protein attributes for GHR Gene

    Size:
    638 amino acids
    Molecular mass:
    71500 Da
    Quaternary structure:
    • On growth hormone (GH) binding, forms homodimers and binds JAK2 via a box 1-containing domain. Binding to SOCS3 inhibits JAK2 activation, binding to CIS and SOCS2 inhibits STAT5 activation. Interacts with ADAM17.

    Three dimensional structures from OCA and Proteopedia for GHR Gene

    Alternative splice isoforms for GHR Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GHR Gene

Proteomics data for GHR Gene at MOPED

Post-translational modifications for GHR Gene

  • On GH binding, phosphorylated on tyrosine residues in the cytoplasmic domain by JAK2.
  • On ligand binding, ubiquitinated on lysine residues in the cytoplasmic domain. This ubiquitination is not sufficient for GHR internalization (By similarity).
  • The soluble form (GHBP) is produced by phorbol ester-promoted proteolytic cleavage at the cell surface (shedding) by ADAM17/TACE. Shedding is inhibited by growth hormone (GH) binding to the receptor probably due to a conformational change in GHR rendering the receptor inaccessible to ADAM17 (By similarity).
  • Glycosylation at Asn46, Asn115, Asn156, Asn161, and Asn200
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for GHR Gene

Domains for GHR Gene

Gene Families for GHR Gene

HGNC:
  • FN3 :Fibronectin type III domain containing
IUPHAR :

Suggested Antigen Peptide Sequences for GHR Gene

Graphical View of Domain Structure for InterPro Entry

P10912

UniProtKB/Swiss-Prot:

GHR_HUMAN :
  • P10912
Domain:
  • The WSXWS motif appears to be necessary for proper protein folding and thereby efficient intracellular transport and cell-surface receptor binding
  • The box 1 motif is required for JAK interaction and/or activation
  • The extracellular domain is the ligand-binding domain representing the growth hormone-binding protein (GHBP)
  • The ubiquitination-dependent endocytosis motif (UbE) is required for recruitment of the ubiquitin conjugation system on to the receptor and for its internalization
  • Contains 1 fibronectin type-III domain.
Family:
  • Belongs to the type I cytokine receptor family. Type 1 subfamily.
genes like me logo Genes that share domains with GHR: view

Function for GHR Gene

Molecular function for GHR Gene

GENATLAS Biochemistry: growth hormone receptor
UniProtKB/Swiss-Prot Function: Receptor for pituitary gland growth hormone involved in regulating postnatal body growth. On ligand binding, couples to the JAK2/STAT5 pathway (By similarity).
UniProtKB/Swiss-Prot Function: The soluble form (GHBP) acts as a reservoir of growth hormone in plasma and may be a modulator/inhibitor of GH signaling
UniProtKB/Swiss-Prot Function: Isoform 2 up-regulates the production of GHBP and acts as a negative inhibitor of GH signaling

Gene Ontology (GO) - Molecular Function for GHR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004896 cytokine receptor activity IEA --
GO:0004903 growth hormone receptor activity --
GO:0005515 protein binding IPI 10502458
GO:0017046 peptide hormone binding IPI 1549776
GO:0019838 growth factor binding IPI 9360546
genes like me logo Genes that share ontologies with GHR: view
genes like me logo Genes that share phenotypes with GHR: view

Animal Models for GHR Gene

MGI Knock Outs for GHR:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for GHR Gene

Localization for GHR Gene

Subcellular locations from UniProtKB/Swiss-Prot for GHR Gene

Cell membrane; Single-pass type I membrane protein. Note=On growth hormone binding, GHR is ubiquitinated, internalized, down-regulated and transported into a degradative or non-degradative pathway. {ECO:0000250}.
Isoform 2: Cell membrane; Single-pass type I membrane protein. Note=Remains fixed to the cell membrane and is not internalized.
Growth hormone-binding protein: Secreted. Note=Complexed to a substantial fraction of circulating GH. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GHR Gene COMPARTMENTS Subcellular localization image for GHR gene
Compartment Confidence
extracellular 5
plasma membrane 5
mitochondrion 2
nucleus 2
cytoskeleton 1
endoplasmic reticulum 1
endosome 1
lysosome 1
peroxisome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for GHR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IMP 2825030
GO:0005634 nucleus --
GO:0005737 cytoplasm --
GO:0005739 mitochondrion --
genes like me logo Genes that share ontologies with GHR: view

Pathways for GHR Gene

genes like me logo Genes that share pathways with GHR: view

Gene Ontology (GO) - Biological Process for GHR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000187 activation of MAPK activity ISS --
GO:0000255 allantoin metabolic process ISS --
GO:0006101 citrate metabolic process ISS --
GO:0006103 2-oxoglutarate metabolic process ISS --
GO:0006105 succinate metabolic process ISS --
genes like me logo Genes that share ontologies with GHR: view

Compounds for GHR Gene

(2) Drugbank Compounds for GHR Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Pegvisomant
  • GH
218620-50-9 target antagonist
Somatropin recombinant
  • GH
12629-01-5 target binder

(2) IUPHAR Ligand for GHR Gene

Ligand Type Action Affinity Pubmed IDs
growth hormone 1 Agonist Agonist
growth hormone 2 Agonist Agonist

(84) Novoseek inferred chemical compound relationships for GHR Gene

Compound -log(P) Hits PubMed IDs
pegvisomant 96.7 124
lanreotide 63.7 1
octreotide 60.9 14
cabergoline 57.3 1
tyrosine 56 125
genes like me logo Genes that share compounds with GHR: view

Transcripts for GHR Gene

Alternative Splicing Database (ASD) splice patterns (SP) for GHR Gene

No ASD Table

Relevant External Links for GHR Gene

GeneLoc Exon Structure for
GHR
ECgene alternative splicing isoforms for
GHR

Expression for GHR Gene

mRNA expression in normal human tissues for GHR Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GHR Gene

This gene is overexpressed in Liver (7.6), Adipose - Subcutaneous (7.3), Adipose - Visceral (Omentum) (7.0), and Muscle - Skeletal (6.2).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for GHR Gene

SOURCE GeneReport for Unigene cluster for GHR Gene Hs.125180

mRNA Expression by UniProt/SwissProt for GHR Gene

P10912-GHR_HUMAN
Tissue specificity: Expressed in various tissues with high expression in liver and skeletal muscle. Isoform 4 is predominantly expressed in kidney, bladder, adrenal gland and brain stem. Isoform 1 expression in placenta is predominant in chorion and decidua. Isoform 4 is highly expressed in placental villi. Isoform 2 is expressed in lung, stomach and muscle. Low levels in liver
genes like me logo Genes that share expressions with GHR: view

Orthologs for GHR Gene

This gene was present in the common ancestor of chordates.

Orthologs for GHR Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GHR 35
  • 99.53 (n)
  • 98.91 (a)
GHR 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia GHR 35
  • 86.38 (n)
  • 77.29 (a)
GHR 36
  • 77 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GHR 35
  • 87.67 (n)
  • 82.29 (a)
GHR 36
  • 83 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ghr 35
  • 80.5 (n)
  • 69.97 (a)
Ghr 16
Ghr 36
  • 68 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GHR 36
  • 68 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GHR 36
  • 64 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ghr 35
  • 80.37 (n)
  • 70.24 (a)
chicken
(Gallus gallus)
Aves GHR 35
  • 69.33 (n)
  • 62.26 (a)
GHR 36
  • 61 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GHR 36
  • 55 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia LOC398153 35
tropical clawed frog
(Silurana tropicalis)
Amphibia ghr 35
  • 60.2 (n)
  • 49.57 (a)
zebrafish
(Danio rerio)
Actinopterygii ghra 35
  • 51.49 (n)
  • 43.83 (a)
ghra 36
  • 36 (a)
OneToMany
ghrb 36
  • 31 (a)
OneToMany
Species with no ortholog for GHR:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for GHR Gene

ENSEMBL:
Gene Tree for GHR (if available)
TreeFam:
Gene Tree for GHR (if available)

Paralogs for GHR Gene

Paralogs for GHR Gene

genes like me logo Genes that share paralogs with GHR: view

Variants for GHR Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for GHR Gene

P10912-GHR_HUMAN
Genetic variation in GHR may act as phenotype modifier in familial hypercholesterolemia [MIM:143890] patients carrying a mutation in the LDLR gene

Sequence variations from dbSNP and Humsavar for GHR Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type MAF
rs6176 -- 42,718,980(+) CTAAG(C/T)GACAT reference, synonymous-codon, utr-variant-3-prime
rs6177 - 42,711,274(+) AGTGC(A/G)TGTGA missense, reference
rs6178 -- 42,711,178(+) TTGGC(C/T)AATAT intron-variant
rs6179 -- 42,699,942(+) AAAGG(A/G)TGGAT reference, synonymous-codon
rs6180 other, - 42,719,137(+) AGTGC(A/C)TCCCT reference, missense, utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for GHR Gene

Variant ID Type Subtype PubMed ID
nsv881375 CNV Loss 21882294
nsv4814 CNV Insertion 18451855
esv1542037 CNV Deletion 17803354
esv2730134 CNV Deletion 23290073
esv993563 CNV Deletion 20482838
esv2730135 CNV Deletion 23290073
esv2415807 CNV Deletion 18987734
esv270396 CNV Insertion 20981092
nsv511284 CNV Loss 21212237
esv2602099 CNV Deletion 19546169
nsv513232 CNV Loss 21212237
esv29345 CNV Loss 19812545
esv3091 CNV Deletion 18987735
esv2662205 CNV Deletion 23128226
dgv143e180 CNV Loss 20482838
esv2730136 CNV Deletion 23290073
dgv943n67 CNV Loss 20364138
esv2421813 CNV Deletion 20811451
esv2669431 CNV Deletion 23128226
esv271660 CNV Insertion 20981092
esv273197 CNV Insertion 20981092
esv270855 CNV Insertion 20981092

Relevant External Links for GHR Gene

HapMap Linkage Disequilibrium report
GHR
Human Gene Mutation Database (HGMD)
GHR
Locus Specific Mutation Databases (LSDB)
GHR

Disorders for GHR Gene

(3) OMIM Diseases for GHR Gene (600946)

UniProtKB/Swiss-Prot

GHR_HUMAN
  • Laron syndrome (LARS) [MIM:262500]: A severe form of growth hormone insensitivity characterized by growth impairment, short stature, dysfunctional growth hormone receptor, and failure to generate insulin-like growth factor I in response to growth hormone. {ECO:0000269 PubMed:10870033, ECO:0000269 PubMed:14678285, ECO:0000269 PubMed:2779634, ECO:0000269 PubMed:8137822, ECO:0000269 PubMed:8421103, ECO:0000269 PubMed:8504296, ECO:0000269 PubMed:9024232, ECO:0000269 PubMed:9661642, ECO:0000269 PubMed:9851797}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Growth hormone insensitivity, partial (GHIP) [MIM:604271]: A disease characterized by partial resistance to growth hormone resulting in short stature. Short stature is defined by a standing height more than 2 standard deviations below the mean (or below the 2.5 percentile) for sex and chronological age, compared with a well-nourished, healthy, genetically relevant population. {ECO:0000269 PubMed:7565946}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(3) University of Copenhagen DISEASES for GHR Gene

(94) Novoseek inferred disease relationships for GHR Gene

Disease -log(P) Hits PubMed IDs
laron syndrome 96.6 133
acromegaly 89.9 116
short stature 85.8 88
dwarfism 78.7 33
growth failure 78.7 11

Relevant External Links for GHR

Genetic Association Database (GAD)
GHR
Human Genome Epidemiology (HuGE) Navigator
GHR
genes like me logo Genes that share disorders with GHR: view

Publications for GHR Gene

  1. Mutations of the growth hormone receptor in children with idiopathic short stature. (PMID: 7565946) Goddard A.D. … Carlsson L.M.S. (N. Engl. J. Med. 1995) 3 4 23
  2. A single amino acid substitution in the exoplasmic domain of the human growth hormone (GH) receptor confers familial GH resistance (Laron syndrome) with positive GH-binding activity by abolishing receptor homodimerization. (PMID: 8137822) Duquesnoy P. … Amselem S. (EMBO J. 1994) 3 4 23
  3. Spectrum of growth hormone receptor mutations and associated haplotypes in Laron syndrome. (PMID: 8504296) Amselem S. … Goossens M. (Hum. Mol. Genet. 1993) 3 4 23
  4. Amino acid substitutions in the intracellular part of the growth hormone receptor in a patient with the Laron syndrome. (PMID: 8421103) Kou K. … Rotwein P. (J. Clin. Endocrinol. Metab. 1993) 3 4 23
  5. Alternatively spliced forms in the cytoplasmic domain of the human growth hormone (GH) receptor regulate its ability to generate a soluble GH-binding protein. (PMID: 8855247) Dastot F. … Amselem S. (Proc. Natl. Acad. Sci. U.S.A. 1996) 3 4 23

Products for GHR Gene

Sources for GHR Gene

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