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Aliases for GHR Gene

Aliases for GHR Gene

  • Growth Hormone Receptor 2 3 5
  • 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 Growth Hormone Insensitivity, Partial. Among its related pathways are Growth hormone receptor signaling and Jak-STAT signaling pathway (KEGG). GO annotations related to this gene include protein homodimerization activity and protein phosphatase binding. An important paralog of this gene is PRLR.

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

Additional gene information for GHR Gene

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

Genomics for GHR Gene

Regulatory Elements for GHR Gene

Enhancers for GHR Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH05H042422 1.2 ENCODE dbSUPER 7.4 +0.4 350 2 PKNOX1 ATF1 ZFP64 SIN3A GLI4 ZNF2 YY1 ZNF121 GLIS2 ZNF143 ZNF131 OXCT1-AS1 C5orf51 GHR ENSG00000250860
GH05H042807 1.3 Ensembl ENCODE 5.6 +387.0 387016 7 FOXA2 MLX ZFP64 ARID4B DMAP1 YY1 PAF1 SP3 MXD4 REST CCDC152 SELENOP PPIAP77 GHR LOC648987 ENSG00000272234
GH05H042839 1 Ensembl ENCODE 5.7 +416.7 416710 1 ELF3 FOXA2 ZNF792 TAL1 MAX CEBPG ZNF644 RAD21 YY1 ZNF316 SELENOP PPIAP77 GHR ENSG00000272234
GH05H042850 0.9 ENCODE 5.7 +429.8 429788 5 ELF3 FOXA2 FEZF1 RAD21 RARA YY1 TCF12 GATA2 ZNF350 MIXL1 CCDC152 SELENOP PPIAP77 GHR ENSG00000272234
GH05H042583 1 dbSUPER 4.1 +160.4 160448 2 FOXA2 PKNOX1 ATF1 ARNT YY1 GATA2 ZNF143 ATF7 ZC3H11A REST FBXO4 GHR GC05M042543 GC05P042548
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around GHR on UCSC Golden Path with GeneCards custom track

Promoters for GHR Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000180098 325 1801 PKNOX1 ZFP64 GLI4 ZNF2 YY1 ZNF121 ZNF143 KLF7 SP3 YY2

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

Genes around GHR on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GHR Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

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 isoforms=2, 346, posLast=115115, isoforms=2, 3, 4156, posLast=161161, and posLast=200200
  • Modification sites at PhosphoSitePlus

Antibody Products

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

Protein Products

No data available for DME Specific Peptides for GHR Gene

Domains & Families for GHR Gene

Gene Families for GHR Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • FDA approved drug targets
  • Predicted membrane proteins

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.
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.

Phenotypes From GWAS Catalog for GHR Gene

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 IEA --
GO:0005515 protein binding IPI 8943276
GO:0017046 peptide hormone binding IPI 1549776
GO:0019901 protein kinase binding ISS --
genes like me logo Genes that share ontologies with GHR: view
genes like me logo Genes that share phenotypes with GHR: view

Human Phenotype Ontology for GHR Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GHR Gene

MGI Knock Outs for GHR:

Animal Model Products

CRISPR Products

miRNA for GHR Gene

miRTarBase miRNAs that target GHR

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for GHR
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GHR gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytosol 5
nucleus 2
cytoskeleton 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (3)
  • Cytoplasmic bodies (2)
  • Cytosol (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for GHR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000932 P-body IDA --
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IMP 2825030
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
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

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

(63) Drugs for GHR Gene - From: DrugBank, DGIdb, IUPHAR, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Pegvisomant Approved Pharma antagonist, Target 0
Somatotropin Approved, Investigational Pharma binder, Target 0
ARX201 Investigational Pharma 0
growth hormone 1 Pharma Agonist 0
growth hormone 2 Pharma Agonist 0

(32) Additional Compounds for GHR Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with GHR: view

Transcripts for GHR Gene

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for GHR
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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



Protein tissue co-expression partners for GHR Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of GHR Gene:

GHR

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.

Evidence on tissue expression from TISSUES for GHR Gene

  • Nervous system(2.2)
  • Liver(4.7)
  • Blood(3)
  • Muscle(2.7)
  • Kidney(2.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for GHR Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • chin
  • ear
  • eye
  • face
  • forehead
  • head
  • jaw
  • larynx
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • pituitary gland
  • skull
  • tongue
  • tooth
  • vocal cord
Thorax:
  • chest wall
  • clavicle
  • heart
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • adrenal gland
Pelvis:
  • ovary
  • pelvis
  • penis
  • uterus
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • sweat gland
  • vertebrae
genes like me logo Genes that share expression patterns with GHR: view

Primer 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
chimpanzee
(Pan troglodytes)
Mammalia GHR 34 33
  • 99.53 (n)
OneToOne
dog
(Canis familiaris)
Mammalia GHR 34 33
  • 87.67 (n)
OneToOne
cow
(Bos Taurus)
Mammalia GHR 34 33
  • 86.38 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ghr 16 34 33
  • 80.5 (n)
rat
(Rattus norvegicus)
Mammalia Ghr 33
  • 80.37 (n)
oppossum
(Monodelphis domestica)
Mammalia GHR 34
  • 68 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GHR 34
  • 64 (a)
OneToOne
chicken
(Gallus gallus)
Aves GHR 33 34
  • 69.33 (n)
lizard
(Anolis carolinensis)
Reptilia GHR 34
  • 55 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ghr 33
  • 60.2 (n)
African clawed frog
(Xenopus laevis)
Amphibia LOC398153 33
zebrafish
(Danio rerio)
Actinopterygii ghra 33 34
  • 51.49 (n)
ghrb 34
  • 31 (a)
OneToMany
Species where no ortholog for GHR was found in the sources mined by GeneCards:
  • 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

GHR_HUMAN-P10912
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
rs121909357 Pathogenic, Laron syndrome (LARS) [MIM:262500] 42,694,991(+) TTACT(C/T)TAATT reference, missense
rs121909361 Pathogenic, Growth hormone insensitivity, partial (GHIP) [MIM:604271] 42,688,937(+) AGCGA(A/G)AGACT reference, missense
rs121909362 Pathogenic, Growth hormone insensitivity, partial (GHIP) [MIM:604271], Laron syndrome (LARS) [MIM:262500] 42,699,919(+) CACCA(C/T)GCAAT reference, missense
rs121909365 Pathogenic, Laron syndrome (LARS) [MIM:262500] 42,699,830(+) GCAAC(A/C)AGATC reference, missense
rs121909366 Pathogenic, Laron syndrome (LARS) [MIM:262500] 42,699,892(+) ATGCA(C/G)ATATC reference, missense

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

Variant ID Type Subtype PubMed ID
dgv143e180 CNV loss 20482838
dgv1595e212 CNV loss 25503493
dgv3077n106 CNV deletion 24896259
dgv5637n100 CNV gain 25217958
dgv943n67 CNV loss 20364138
dgv9732n54 CNV loss 21841781
dgv9733n54 CNV loss 21841781
dgv9734n54 CNV loss 21841781
dgv9735n54 CNV loss 21841781
dgv9736n54 CNV loss 21841781
esv1542037 CNV deletion 17803354
esv2415807 CNV deletion 18987734
esv2421813 CNV deletion 20811451
esv2602099 CNV deletion 19546169
esv2662205 CNV deletion 23128226
esv2669431 CNV deletion 23128226
esv2730134 CNV deletion 23290073
esv2730135 CNV deletion 23290073
esv2730136 CNV deletion 23290073
esv29345 CNV loss 19812545
esv3091 CNV loss 18987735
esv3293829 CNV deletion 24192839
esv3306119 CNV mobile element insertion 20981092
esv3306579 CNV mobile element insertion 20981092
esv3307386 CNV mobile element insertion 20981092
esv3308924 CNV mobile element insertion 20981092
esv3339531 CNV insertion 20981092
esv3376819 CNV insertion 20981092
esv3380387 CNV insertion 20981092
esv3398487 CNV insertion 20981092
esv3429323 CNV insertion 20981092
esv3431395 CNV insertion 20981092
esv3565863 CNV deletion 23714750
esv3604866 CNV gain 21293372
esv3604870 CNV gain 21293372
esv3604871 CNV loss 21293372
esv3604872 CNV loss 21293372
esv3604874 CNV gain 21293372
esv3604875 CNV loss 21293372
esv3604877 CNV loss 21293372
esv3604878 CNV loss 21293372
esv3604880 CNV loss 21293372
esv993563 CNV deletion 20482838
nsv1020464 CNV gain 25217958
nsv1073879 CNV deletion 25765185
nsv1074829 CNV deletion 25765185
nsv1109691 CNV deletion 24896259
nsv1109692 CNV deletion 24896259
nsv1116546 OTHER inversion 24896259
nsv1136994 CNV deletion 24896259
nsv476201 CNV novel sequence insertion 20440878
nsv4814 CNV insertion 18451855
nsv511284 CNV loss 21212237
nsv513232 CNV loss 21212237
nsv597886 CNV gain 21841781
nsv597887 CNV loss 21841781
nsv597904 CNV loss 21841781
nsv597907 CNV loss 21841781
nsv950672 CNV deletion 24416366
nsv956501 CNV deletion 24416366

Variation tolerance for GHR Gene

Residual Variation Intolerance Score: 71.8% 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

Human Gene Mutation Database (HGMD)
GHR
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GHR

Disorders for GHR Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
laron dwarfism
  • laron syndrome
growth hormone insensitivity, partial
  • ghip
hypercholesterolemia, familial
  • hypercholesterolemia, familial, modifier of
growth hormone deficiency, isolated partial
  • partial isolated growth hormone deficiency
turner syndrome
  • bonnevie-ullrich syndrome
- elite association - COSMIC cancer census association via MalaCards
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:8450064, 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. The exon 3-deleted growth hormone receptor is associated with better response to pegvisomant therapy in acromegaly. (PMID: 19850678) Bernabeu I … Marazuela M (The Journal of clinical endocrinology and metabolism 2010) 3 22 45 60
  2. The growth hormone receptor (GHR) polymorphism in growth-retarded children with Cushing disease: lack of association with growth and measures of the somatotropic axis. (PMID: 20013551) Drori-Herishanu L … Stratakis CA (Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme 2010) 3 22 45 60
  3. Growth hormone receptor polymorphism and the effects of pegvisomant in acromegaly. (PMID: 19089622) Bianchi A … De Marinis L (Pituitary 2009) 3 22 45 60
  4. Impact of the growth hormone receptor exon 3 deletion gene polymorphism on glucose metabolism, lipids, and insulin-like growth factor-I levels during puberty. (PMID: 19417039) Sørensen K … Juul A (The Journal of clinical endocrinology and metabolism 2009) 3 22 45 60
  5. The Leu544Ile polymorphism of the growth hormone receptor gene affects the serum cholesterol levels during GH treatment in children with GH deficiency. (PMID: 17547682) Ihara K … Hara T (Clinical endocrinology 2007) 3 22 45 60

Products for GHR Gene

Sources for GHR Gene

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