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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 short stature due to partial ghr deficiency and laron dwarfism. Among its related pathways are PI3K-Akt signaling pathway and Immune System. 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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for GHR Gene

Chromosome:
5
Start:
42,423,775 bp from pter
End:
42,721,878 bp from pter
Size:
298,104 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 Asn 46, Asn 115, Asn 156, Asn 161, and Asn 200
  • Modification sites at PhosphoSitePlus

Antibody Products

  • R&D Systems Antibodies for GHR (Growth Hormone R)

No data available for DME Specific Peptides for GHR Gene

Domains & Families for GHR Gene

Gene Families for GHR Gene

Suggested Antigen Peptide Sequences for GHR Gene

Graphical View of Domain Structure for InterPro Entry

P10912

UniProtKB/Swiss-Prot:

GHR_HUMAN :
  • The WSXWS motif appears to be necessary for proper protein folding and thereby efficient intracellular transport and cell-surface receptor binding
  • Belongs to the type I cytokine receptor family. Type 1 subfamily.
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 8943276
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:

Animal Model Products

miRNA for GHR Gene

miRTarBase miRNAs that target GHR

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for GHR

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets 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
nucleus 2
cytosol 1
lysosome 1
mitochondrion 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:0005622 intracellular TAS --
GO:0005634 nucleus --
GO:0005737 cytoplasm --
genes like me logo Genes that share ontologies with GHR: view

Pathways & Interactions for GHR Gene

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

PCR Array Products

SIGNOR curated interactions for GHR Gene

Is activated by:
Is inactivated by:

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

Drugs & Compounds for GHR Gene

(59) Drugs for GHR Gene - From: NovoSeek, DGIdb, DrugBank, and IUPHAR

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Pegvisomant Approved Pharma antagonist, Target 0
Somatropin recombinant Approved, Investigational Pharma binder, Target 0
Bromocriptine Approved, Investigational Pharma Partial agonist, Agonist 27
Cabergoline Approved Pharma Full agonist, Agonist 42
Chloramphenicol Approved Pharma 6

(36) Additional Compounds for GHR Gene - From: NovoSeek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
125I
aspartate
Carbohydrates
C-Peptide
Creatinine
  • 1-Methylglycocyamidine
  • 1-Methylhydantoin-2-imide
  • 2-Amino-1-methyl-1,5-dihydroimidazol-4-one
  • 2-Amino-1-methylimidazolin-4-one
  • Creatine anhydride
60-27-5
genes like me logo Genes that share compounds with GHR: view

Transcripts for GHR Gene

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for GHR

Flow Cytometry Products

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 (x7.6), Adipose - Subcutaneous (x7.3), Adipose - Visceral (Omentum) (x7.0), and Muscle - Skeletal (x6.2).

Protein differential expression in normal tissues from HIPED for GHR Gene

This gene is overexpressed in Nasal epithelium (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with GHR: view

Protein tissue co-expression partners for GHR Gene

- Elite partner

Primer Products

In Situ Assay Products

Orthologs for GHR Gene

This gene was present in the common ancestor of chordates.

Orthologs for GHR Gene

Organism Taxonomy Gene Similarity Type Details
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
chimpanzee
(Pan troglodytes)
Mammalia GHR 35
  • 99.53 (n)
  • 98.91 (a)
GHR 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ghr 35
  • 80.37 (n)
  • 70.24 (a)
oppossum
(Monodelphis domestica)
Mammalia GHR 36
  • 68 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GHR 36
  • 64 (a)
OneToOne
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
tropical clawed frog
(Silurana tropicalis)
Amphibia ghr 35
  • 60.2 (n)
  • 49.57 (a)
African clawed frog
(Xenopus laevis)
Amphibia LOC398153 35
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
VAR_002708 Growth hormone insensitivity, partial (GHIP)
VAR_002709 Laron syndrome (LARS)
VAR_002710 Laron syndrome (LARS)
VAR_002711 Laron syndrome (LARS)
VAR_002712 Laron syndrome (LARS)

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

Variation tolerance for GHR Gene

Residual Variation Intolerance Score: 71.78% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 14.01; 96.03% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GHR Gene

HapMap Linkage Disequilibrium report
GHR
Human Gene Mutation Database (HGMD)
GHR

Disorders for GHR Gene

MalaCards: The human disease database

(29) MalaCards diseases for GHR Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, NovoSeek, and GeneCards

Disorder Aliases PubMed IDs
short stature due to partial ghr deficiency
  • short stature due to partial growth hormone receptor deficiency
laron dwarfism
  • laron syndrome
growth hormone insensitivity, partial
  • partial ighd
short stature due to ghsr deficiency
  • short stature due to growth hormone secretagogue receptor deficiency
growth hormone deficiency, isolated partial
  • partial ighd
- elite association
Search GHR in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

GHR_HUMAN
  • 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.
  • 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.

Relevant External Links for GHR

Genetic Association Database (GAD)
GHR
Human Genome Epidemiology (HuGE) Navigator
GHR
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GHR
genes like me logo Genes that share disorders with GHR: view

No data available for Genatlas for GHR Gene

Publications for GHR Gene

  1. Impact of growth hormone receptor blockade on substrate metabolism during fasting in healthy subjects. (PMID: 19820031) Moller L. … Lunde Jorgensen J.O. (J. Clin. Endocrinol. Metab. 2009) 23 25 67
  2. Hormones and body size evolution in papionin primates. (PMID: 17133434) Bernstein R.M. … Monaco M.H. (Am. J. Phys. Anthropol. 2007) 23 25 67
  3. Growth hormone receptor targeting to lipid rafts requires extracellular subdomain 2. (PMID: 19914217) Yang N. … Frank S.J. (Biochem. Biophys. Res. Commun. 2010) 23 67
  4. The current status of IGF-I assays--a 2009 update. (PMID: 19818658) Frystyk J. … Clemmons D.R. (Growth Horm. IGF Res. 2010) 23 67
  5. Skin reaction and fever after treatment with pegvisomant in a patient with acromegaly. (PMID: 20206782) Manavela M.P. … Bruno O.D. (Clin Ther 2010) 23 67

Products for GHR Gene

Sources for GHR Gene

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