Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



GHR Gene

protein-coding   GIFtS: 68
GCID: GC05P042429

Growth Hormone Receptor

Pneumococci & Pneumococcal Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

TryGeneCards Plus

Aliases
Growth Hormone Receptor1 2
Growth Hormone Binding Protein1 2
Somatotropin Receptor2 3
GH Receptor2 3
GHBP2
Serum Binding Protein2

External Ids:    HGNC: 42631   Entrez Gene: 26902   Ensembl: ENSG000001129647   OMIM: 6009465   UniProtKB: P109123   

Export aliases for GHR gene to outside databases

Previous GC identifers: GC05P042872 GC05P043600 GC05P042424 GC05P042469 GC05P042459


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

TryGeneCards Plus

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 syndrome, and increased responsiveness to growth hormone. GO annotations related to this gene include protein phosphatase binding and protein homodimerization activity. An important paralog of this gene is CRLF1.

UniProtKB/Swiss-Prot: GHR_HUMAN, P10912
Function: Receptor for pituitary gland growth hormone involved in regulating postnatal body growth. On ligand
binding, couples to the JAK2/STAT5 pathway (By similarity)
Function: The soluble form (GHBP) acts as a reservoir of growth hormone in plasma and may be a modulator/inhibitor
of GH signaling
Function: Isoform 2 up-regulates the production of GHBP and acts as a negative inhibitor of GH signaling

Gene Wiki entry for GHR (Growth hormone receptor) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

TryGeneCards Plus
RefSeq DNA sequence:
NC_000005.10  NT_006576.17  NC_018916.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the GHR gene promoter:
         Sox5   AP-1   JunB   Pax-2   Pax-2a   YY1   Pax-2b   Cart-1   STAT3   c-Myb   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGHR promoter sequence
   Search Chromatin IP Primers for GHR

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GHR


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 5p13-p12   Ensembl cytogenetic band:  5p13.1   HGNC cytogenetic band: 5p14-p12

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

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05P042429:  view genomic region     (about GC identifiers)

Start:
42,423,877 bp from pter      End:
42,721,980 bp from pter
Size:
298,104 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: GHR_HUMAN, P10912 (See protein sequence)
Recommended Name: Growth hormone receptor precursor  
Size: 638 amino acids; 71500 Da
Subunit: On growth hormone (GH) binding, forms homodimers and binds JAK2 via a box 1-containing domain (By
similarity). Binding to SOCS3 inhibits JAK2 activation, binding to CIS and SOCS2 inhibits STAT5 activation (By
similarity). Interacts with ADAM17 (By similarity)
Selected PDB 3D structures from and Proteopedia for GHR (see all 7):
1A22 (3D)        1AXI (3D)        1HWG (3D)        1HWH (3D)        1KF9 (3D)        2AEW (3D)    
Secondary accessions: Q9HCX2
Alternative splicing: 4 isoforms:  P10912-1   P10912-2   P10912-3   P10912-4   (Arises by species-specific retrovirus-mediated alternative splice mimicry)

Explore the universe of human proteins at neXtProt for GHR: NX_P10912

Explore proteomics data for GHR at MOPED

Post-translational modifications: 

  • 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)1
  • On GH binding, phosphorylated on tyrosine residues in the cytoplasmic domain by JAK2 (By similarity)1
  • On ligand binding, ubiquitinated on lysine residues in the cytoplasmic domain. This ubiquitination is not
    sufficient for GHR internalization (By similarity)1
  • Glycosylation2 at Asn46, Asn115, Asn156, Asn161, Asn200
  • Modification sites at PhosphoSitePlus

  • See GHR Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (11 alternative transcripts): 
    NP_000154.1  NP_001229328.1  NP_001229329.1  NP_001229330.1  NP_001229331.1  NP_001229332.1  NP_001229333.1  NP_001229334.1  
    NP_001229335.1  NP_001229389.1  NP_001229391.1  

    ENSEMBL proteins: 
     ENSP00000230882   ENSP00000426739   ENSP00000422333   ENSP00000350335   ENSP00000442206  
    Reactome Protein details: P10912

    GHR Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    R&D Systems Recombinant & Natural Proteins for GHR (Growth Hormone R)
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec
    OriGene Custom Protein Services for GHR
    GenScript Custom Purified and Recombinant Proteins Services for GHR
    Novus Biologicals GHR Proteins
    Sino Biological Recombinant Protein for GHR
    Sino Biological Cell Lysate for GHR
    ProSpec Recombinant Protein for GHR
    Cloud-Clone Corp. Proteins for GHR

    GHR Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    R&D Systems Antibodies for GHR (Growth Hormone R)
    OriGene Antibodies for GHR
    OriGene Custom Antibody Services for GHR
    Novus Biologicals GHR Antibodies
    Search for Antibodies for GHR at Abcam
    Cloud-Clone Corp. Antibodies for GHR
    ThermoFisher Antibodies for GHR
    LSBio Antibodies in human, mouse, rat for GHR

    GHR Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for GHR
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for GHR
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for GHR
    Cloud-Clone Corp. CLIAs for GHR


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TryGeneCards Plus
    HGNC Gene Families:
    FN3: Fibronectin type III domain containing

    IUPHAR Guide to PHARMACOLOGY protein family classification: Growth hormone receptor
    Prolactin receptor family

    5 InterPro protein domains:
     IPR003961 Fibronectin_type3
     IPR013783 Ig-like_fold
     IPR015152 Growth/epo_recpt_lig-bind
     IPR003528 Long_hematopoietin_rcpt_CS
     IPR025871 GHBP

    Graphical View of Domain Structure for InterPro Entry P10912

    ProtoNet protein and cluster: P10912

    1 Blocks protein domain: IPB003528 Long hematopoietin receptor

    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
    Domain: The box 1 motif is required for JAK interaction and/or activation
    Domain: The extracellular domain is the ligand-binding domain representing the growth hormone-binding protein
    (GHBP)
    Domain: The ubiquitination-dependent endocytosis motif (UbE) is required for recruitment of the ubiquitin
    conjugation system on to the receptor and for its internalization
    Similarity: Belongs to the type I cytokine receptor family. Type 1 subfamily
    Similarity: Contains 1 fibronectin type-III domain


    GHR for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: GHR_HUMAN, P10912
    Function: Receptor for pituitary gland growth hormone involved in regulating postnatal body growth. On ligand
    binding, couples to the JAK2/STAT5 pathway (By similarity)
    Function: The soluble form (GHBP) acts as a reservoir of growth hormone in plasma and may be a modulator/inhibitor
    of GH signaling
    Function: Isoform 2 up-regulates the production of GHBP and acts as a negative inhibitor of GH signaling

         Genatlas biochemistry entry for GHR:
    growth hormone receptor

         Gene Ontology (GO): Selected molecular function terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004903growth hormone receptor activity IEA--
    GO:0005515protein binding IPI10502458
    GO:0017046peptide hormone binding IPI1549776
    GO:0019838growth factor binding IPI9360546
    GO:0019901protein kinase binding ISS--
         
    GHR for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for GHR:
     Increased S DNA content 

         Selected MGI mutant phenotypes (inferred from 9 alleles(MGI details for Ghr) (see all 18):
     adipose tissue  behavior/neurological  cardiovascular system  embryogenesis  endocrine/exocrine gland 
     growth/size/body  hematopoietic system  homeostasis/metabolism  immune system  integument 
     limbs/digits/tail  liver/biliary system  mortality/aging  muscle  nervous system 

    GHR for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for GHR: Ghrtm1Jjk Ghrtm1Arge Ghrtm1.2Masp Ghrtm2Mwat Ghrtm1Mwat

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for GHR
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for GHR

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for GHR
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for GHR

    miRNA
    Products:
        
    Block miRNA regulation of human, mouse, rat GHR using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate GHR (see all 25):
    hsa-miR-142-3p hsa-let-7d hsa-miR-548k hsa-miR-202 hsa-miR-15a hsa-miR-624* hsa-let-7c hsa-let-7g
    SwitchGear 3'UTR luciferase reporter plasmidGHR 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for GHR
    Predesigned siRNA for gene silencing in human, mouse, rat GHR

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for GHR

    Clone
    Products:
         
    OriGene clones in human, mouse for GHR (see all 7)
    OriGene ORF clones in mouse, rat for GHR
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: GHR (NM_000163)
    Sino Biological Human cDNA Clone for GHR
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for GHR
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GHR

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for GHR
    Browse ESI BIO Cell Lines and PureStem Progenitors for GHR 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GHR


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from UniProtKB/Swiss-Prot
    GHR_HUMAN, P10912: 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 (By
    similarity)
    GHR_HUMAN, P10912: Isoform 2: Cell membrane; Single-pass type I membrane protein. Note=Remains fixed to the
    cell membrane and is not internalized
    GHR_HUMAN, P10912: Growth hormone-binding protein: Secreted. Note=Complexed to a substantial fraction of
    circulating GH (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    plasma membrane5
    mitochondrion2
    nucleus2
    cytoskeleton1
    endoplasmic reticulum1
    endosome1
    lysosome1
    peroxisome1
    vacuole1

    Gene Ontology (GO): Selected cellular component terms (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005615extracellular space IMP2825030
    GO:0005634nucleus IEA--
    GO:0005737cytoplasm ----
    GO:0005739mitochondrion IEA--

    GHR for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
    About This Section

    TryGeneCards Plus

    SuperPaths for GHR About   (see all 15)  
    See pathways by source

    SuperPathContained pathways About
    1Nuclear signaling by ERBB4
    Nuclear signaling by ERBB4
    Prolactin receptor signaling0.00
    2PI-3K cascade
    Signaling by ERBB40.66
    3Interferon Signaling
    Cytokine Signaling in Immune system0.59
    4Signaling by GPCR
    Signal Transduction0.58
    5TGF-Beta Pathway
    JAK-STAT Pathway0.57

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for GHR
        Growth Hormone Signaling
    JAK-STAT Pathway

    1 GeneGo (Thomson Reuters) Pathway for GHR
        Development Growth hormone signaling via PI3K/AKT and MAPK cascades

    2 BioSystems Pathways for GHR
        Endochondral Ossification
    Notch-mediated HES/HEY network


    2 Reactome Pathways for GHR
        Growth hormone receptor signaling
    Prolactin receptor signaling


    4 Kegg Pathways  (Kegg details for GHR):
        Cytokine-cytokine receptor interaction
    Neuroactive ligand-receptor interaction
    PI3K-Akt signaling pathway
    Jak-STAT signaling pathway


    GHR for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including GHR: 
              Nephrotoxicity in human mouse rat
              Interferons & Receptors in human mouse rat
              Obesity in human mouse rat
              JAK / STAT Signaling Pathway in human mouse rat
              Inflammatory Response & Autoimmunity 384HT in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for GHR

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for GHR (P109121, 2, 3 ENSP000002308824) via UniProtKB, MINT, STRING, and/or I2D (see all 61)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PTPN2P177061, 2, 3, ENSP000003118574EBI-286316,EBI-984930 MINT-6797701 MINT-6797461 MINT-6797520 MINT-6797669 MINT-6797685 MINT-6797717 MINT-6797749 I2D: score=3 STRING: ENSP00000311857
    PTPN3P260451, 2, 3, ENSP000002625394EBI-286316,EBI-1047946 MINT-6797590 MINT-6797814 MINT-6797489 MINT-6797621 MINT-6797890 I2D: score=3 STRING: ENSP00000262539
    PTPN9P433781, 2, 3, ENSP000003035544EBI-286316,EBI-742898 MINT-6797548 MINT-6797775 I2D: score=3 STRING: ENSP00000303554
    PTPRBP234671, 2, 3, ENSP000003349284EBI-286316,EBI-1265766 MINT-6797788 MINT-6797562 I2D: score=3 STRING: ENSP00000334928
    PSAPP076022, 3, ENSP000003783944MINT-6797604 MINT-6797576 MINT-6797801 MINT-6797475 I2D: score=1 STRING: ENSP00000378394
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 42):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000187activation of MAPK activity ISS--
    GO:0000255allantoin metabolic process ISS--
    GO:0006101citrate metabolic process ISS--
    GO:00061032-oxoglutarate metabolic process ISS--
    GO:0006105succinate metabolic process ISS--

    GHR for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
    About This Section

    TryGeneCards Plus
    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for GHR

    2 DrugBank Compounds for GHR    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Somatropin recombinantGH (see all 7)12629-01-5targetbinder17082603 11752352 16965663 17128263 17133434 16917171
    PegvisomantGH (see all 6)218620-50-9targetantagonist20595800 17322491 11752352 19820031

    2 IUPHAR Ligands for GHR (Growth hormone receptor)    About this table
    LigandTypeActionAffinityPubmed IDs
    growth hormone 1
    AgonistAgonist--
    growth hormone 2
    AgonistAgonist--

    Selected Novoseek inferred chemical compound relationships for GHR gene (see all 84)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    pegvisomant 96.7 154 11158013 (4), 15356058 (3), 19850678 (3), 12846737 (3) (see all 99)
    lanreotide 63.7 1 12812311 (1)
    octreotide 60.9 16 9037128 (2), 18058736 (1), 16789626 (1), 10946911 (1) (see all 13)
    cabergoline 57.3 1 16789626 (1)
    tyrosine 56 183 1874195 (6), 8647880 (4), 7691587 (3), 9195475 (3) (see all 84)
    hexarelin 52.6 1 9421445 (1)
    ghrp 44.1 1 9421445 (1)
    glucose 43 55 11248744 (3), 20185347 (3), 15561944 (3), 10619983 (2) (see all 31)
    ribonucleic acid 40.6 16 9024230 (2), 10946895 (2), 8200952 (1), 7962309 (1) (see all 8)
    marvelon 33.7 1 9704813 (1)



    GHR for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
    About This Section

    TryGeneCards Plus

    REFSEQ mRNAs for GHR gene (12 alternative transcripts): 
    NM_000163.4  NM_001242399.2  NM_001242400.2  NM_001242401.3  NM_001242402.2  NM_001242403.2  NM_001242404.2  NM_001242405.2  
    NM_001242406.2  NM_001242460.1  NM_001242462.1  NM_001242461.1  

    Unigene Cluster for GHR:

    Growth hormone receptor
    Hs.125180  [show with all ESTs]
    Unigene Representative Sequence: NM_001242400
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000230882(uc003jmt.3 uc003jmu.3 uc021xxv.1 uc003jmv.2 uc021xxw.1 uc021xxx.1 uc021xxy.1 uc021xxz.1 uc021xya.1 uc021xyb.1 uc021xyc.1 uc011cpq.2 uc021xyd.1)
    ENST00000513671 ENST00000505006 ENST00000511135 ENST00000513625 ENST00000357703
    ENST00000537449

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat GHR using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate GHR (see all 25):
    hsa-miR-142-3p hsa-let-7d hsa-miR-548k hsa-miR-202 hsa-miR-15a hsa-miR-624* hsa-let-7c hsa-let-7g
    SwitchGear 3'UTR luciferase reporter plasmidGHR 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for GHR
    Predesigned siRNA for gene silencing in human, mouse, rat GHR
    Clone
    Products:
         
    OriGene clones in human, mouse for GHR (see all 7)
    OriGene ORF clones in mouse, rat for GHR
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: GHR (NM_000163)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for GHR
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GHR
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for GHR
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat GHR
      QuantiTect SYBR Green Assays in human, mouse, rat GHR
      QuantiFast Probe-based Assays in human, mouse, rat GHR

    Additional mRNA sequence: 

    AF230801.1 X06562.1 Z11802.1 Z11849.1 Z11850.1 Z11853.1 

    2 DOTS entries:

    DT.70103790  DT.95071668 

    Selected AceView cDNA sequences (see all 52):

    BX487633 BM719293 BQ717199 AI570832 NM_000163 CB162289 BU617771 X06562 
    CN480439 AA088572 BU625645 AA854743 BG617161 BG563296 BM987400 BV199091 
    AU120005 BE856739 AL598835 AI016221 AA401795 BM989161 AW242284 BM683227 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TryGeneCards Plus

    GHR expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACCAAGGTCA
    GHR Expression
    About this image


    GHR expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 13) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 2 entries
             HyStem+TGFbeta3+GDF5-induced MEL2 cells
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 2 entries
             Muscle Progenitor Cells Mandibular Arch Muscles
     
     Epithelial Cells
             Outer Root Sheath Cells Outer Root Sheath
     
     Cartilage (Muscoskeletal System)
             HyStem+TGFbeta3+GDF5-induced MEL2 cells
     
     Testis (Reproductive System)
             Testicular Interstitial Cells Testis Interstitium
    GHR Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GHR Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.125180

    UniProtKB/Swiss-Prot: GHR_HUMAN, P10912
    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

        Pathway & Disease-focused RT2 Profiler PCR Arrays including GHR: 
              Nephrotoxicity in human mouse rat
              Interferons & Receptors in human mouse rat
              Obesity in human mouse rat
              JAK / STAT Signaling Pathway in human mouse rat
              Inflammatory Response & Autoimmunity 384HT in human mouse rat

    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for GHR
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat GHR
    QuantiTect SYBR Green Assays in human, mouse, rat GHR
    QuantiFast Probe-based Assays in human, mouse, rat GHR
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GHR

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    TryGeneCards Plus

    This gene was present in the common ancestor of chordates.

    Orthologs for GHR gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ghr1 , 5 growth hormone receptor1, 5 80.5(n)1
    69.97(a)1
      15 (1.84 cM)5
    146001  NM_001286370.11  NP_001273299.11 
     33177605 
    chicken
    (Gallus gallus)
    Aves GHR1 growth hormone receptor 69.33(n)
    62.26(a)
      408184  NM_001001293.1  NP_001001293.1 
    lizard
    (Anolis carolinensis)
    Reptilia GHR6
    growth hormone receptor
    55(a)
    1 ↔ 1
    2(6280518-6453235)
    African clawed frog
    (Xenopus laevis)
    Amphibia LOC3981532 growth hormone receptor 75.35(n)    AF193799.1 
    zebrafish
    (Danio rerio)
    Actinopterygii ghra1 growth hormone receptor a 51.49(n)
    43.83(a)
      100001424  NM_001083578.1  NP_001077047.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

    TryGeneCards Plus
    Paralogs for GHR gene
    CRLF12  PRLR2  

    GHR for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

    TryGeneCards Plus

    Polymorphic Variants from UniProtKB/Swiss-Prot
    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


    Selected SNPs for GHR (see all 5970)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1219093621,2,,4
    C,FShort stature, idiopathic, autosomal (ISSA)4 pathogenic142644665(+) CACCAC/TGCAAT 22 R C mis12Minor allele frequency- T:0.00NA EU 5873
    rs61821,2,,4
    C,F,O,HLaron syndrome (LARS)4 --42663574(+) TGCTTG/TCCCTG 21 C F mis1 ut3137Minor allele frequency- T:0.03MN NA EU CSAM EA NS 10323
    VAR_0184344
    Laron syndrome (LARS)4--see VAR_0184342 Y C mis40--------
    VAR_0027094
    Laron syndrome (LARS)4--see VAR_0027092 R K mis40--------
    VAR_0184314
    Laron syndrome (LARS)4--see VAR_0184312 I T mis40--------
    VAR_0184324
    Laron syndrome (LARS)4--see VAR_0184322 Q P mis40--------
    VAR_0027114
    Laron syndrome (LARS)4--see VAR_0027112 V A mis40--------
    VAR_0184284
    Laron syndrome (LARS)4--see VAR_0184282 W R mis40--------
    VAR_0184334
    Laron syndrome (LARS)4--see VAR_0184332 V G mis40--------
    VAR_0184264
    Laron syndrome (LARS)4--see VAR_0184262 C S mis40--------

    HapMap Linkage Disequilibrium report for GHR (42423877 - 42673877 bp, first 250kb of GHR)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for GHR (see all 22):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2415807CNV Deletion18987734
    esv2421813CNV Deletion20811451
    esv2730135CNV Deletion23290073
    esv2662205CNV Deletion23128226
    esv1542037CNV Deletion17803354
    esv2669431CNV Deletion23128226
    esv2730134CNV Deletion23290073
    esv993563CNV Deletion20482838
    esv2602099CNV Deletion19546169
    esv2730136CNV Deletion23290073

    Human Gene Mutation Database (HGMD): GHR
    Locus Specific Mutation Databases (LSDB): GHR

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing GHR
    DNA2.0 Custom Variant and Variant Library Synthesis for GHR

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    TryGeneCards Plus
    OMIM gene information: 600946   
    OMIM disorders: 262500  604271  143890  
    UniProtKB/Swiss-Prot: GHR_HUMAN, P10912
  • 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. Note=The disease is caused by mutations affecting the gene represented in
    this entry
  • Short stature, idiopathic, autosomal (ISSA) [MIM:604271]: A condition 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, genetically relevant population, in the absence of specific causative disorders. Note=The
    disease is caused by mutations affecting the gene represented in this entry

  • Selected diseases for GHR (see all 116):    
    About MalaCards
    laron syndrome    increased responsiveness to growth hormone    papilledema    actinic keratosis
    hypercholesterolemia, familial, modification of    short stature    bell's palsy    plexiform neurofibroma
    acromegaly    fibrous dysplasia    dwarfism    somatostatin analog
    pituitary adenoma    panhypopituitarism    keratosis    turner syndrome
    noonan syndrome    central precocious puberty    adenohypophysitis    growth hormone secreting pituitary adenoma

    3 diseases from the University of Copenhagen DISEASES database for GHR:
    Laron syndrome     Acromegaly     Turner syndrome

    GHR for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014

    Selected Novoseek inferred disease relationships for GHR gene (see all 94)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    laron syndrome 96.6 185 12199334 (3), 17706034 (3), 7815422 (3), 15751611 (2) (see all 99)
    acromegaly 89.9 129 12201832 (4), 12372843 (3), 10193608 (3), 19850678 (3) (see all 85)
    short stature 85.8 114 17462934 (3), 16582564 (3), 9814495 (3), 7565946 (3) (see all 72)
    dwarfism 78.7 50 2307733 (2), 8496320 (2), 9371826 (2), 1752341 (1) (see all 30)
    growth failure 78.7 15 8421103 (1), 7686916 (1), 10102079 (1), 17405847 (1) (see all 11)
    igf1 deficiency 73.4 3 11855684 (1), 18359741 (1), 9626125 (1)
    growth retardation 65.4 17 1752341 (1), 16787985 (1), 17324920 (1), 20190552 (1) (see all 12)
    growth hormone deficiency 65.2 1 11966735 (1)
    growth disorders 61.7 9 12948293 (2), 7673403 (1), 19407498 (1), 11413990 (1) (see all 7)
    renal cirrhosis 60.5 3 10720017 (1), 7509216 (1)

    Genetic Association Database (GAD): GHR
    Human Genome Epidemiology (HuGE) Navigator: GHR (94 documents)

    Export disorders for GHR gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    TryGeneCards Plus

    PubMed articles for GHR gene, integrated from 10 sources (see all 1228):
    (articles sorted by number of sources associating them with GHR)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A short isoform of the human growth hormone receptor functions as a dominant negative inhibitor of the full-length receptor and generates large amounts of binding protein. (PubMed id 9058373)1, 2, 9 Ross R.J.... Finidori J. (Mol. Endocrinol. 1997)
    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. (PubMed id 20013551)1, 4, 9 Drori-Herishanu L....Stratakis C.A. (Horm. Metab. Res. 2010)
    3. Alternatively spliced forms in the cytoplasmic domain of the human growth hormone (GH) receptor regulate its ability to generate a soluble GH-binding protein. (PubMed id 8855247)1, 2, 9 Dastot F....Amselem S. (Proc. Natl. Acad. Sci. U.S.A. 1996)
    4. Relationship between nocturnal growth hormone concentrations, serum IGF-I/IGFBP-3 levels, insulin sensitivity and GH receptor allelic variant in small for gestational age children. (PubMed id 17347571)1, 4, 9 Mericq V....Cassorla F. (Horm. Res. 2007)
    5. Genetic variation at the growth hormone (GH1) and growth hormone receptor (GHR) loci as a risk factor for hypertension and stroke. (PubMed id 16572267)1, 4, 9 Horan M....Cooper D.N. (Hum. Genet. 2006)
    6. The exon 3-deleted growth hormone receptor is associated with better response to pegvisomant therapy in acromegaly. (PubMed id 19850678)1, 4, 9 Bernabeu I....Marazuela M. (J. Clin. Endocrinol. Metab. 2010)
    7. Adolescent idiopathic scoliosis and the single-nucleotide polymorphism of the growth hormone receptor and IGF-1 genes. (PubMed id 19634821)1, 4, 9 Yang Y....Qiu G. (Orthopedics 2009)
    8. The exon 3-deleted/full-length growth hormone receptor polymorphism did not influence growth response to growth hormone therapy over two years in prepubertal short children born at term with adequate weight and length for gestational age. (PubMed id 18160465)1, 4, 9 Carrascosa A....GussinyAc M. (J. Clin. Endocrinol. Metab. 2008)
    9. Haplotype-based analysis of common variation in the growth hormone receptor gene and prostate cancer risk. (PubMed id 17220348)1, 4, 9 McKay J.D....GrAPnberg H. (amp 2007)
    10. Growth hormone receptor mutations in children with idiopathic short stature. (PubMed id 9814495)1, 2, 9 Sanchez J.E.... Cleveland W.W. (J. Clin. Endocrinol. Metab. 1998)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

    TryGeneCards Plus
    Entrez Gene: 2690 HGNC: 4263 AceView: GHR Ensembl:ENSG00000112964 euGenes: HUgn2690
    ECgene: GHR Kegg: 2690 H-InvDB: GHR

    (According to HUGE)
    About This Section

    TryGeneCards Plus
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for GHR Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=GHR[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus
    Patent Information for GHR gene:
    Search GeneIP for patents involving GHR

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

    TryGeneCards Plus

     
     EMD Millipore genomic analysis products

      
     Antibodies for GHR (Growth Hormone R)   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Recombinant/Natural Proteins for GHR (Growth Hormone R)   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     OriGene Antibodies for GHR   OriGene RNAi products in human, mouse, rat for GHR  
     Browse OriGene qPCR primer pairs and template standards   Browse OriGene Protein Over-expression Lysates  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for GHR  
     OriGene qSTAR qPCR primer pairs in human, mouse for GHR   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
     OriGene ORF clones in mouse, rat for GHR   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for GHR   OriGene Custom Protein Services for GHR  

     
     
     Block miRNA regulation of human, mouse, rat GHR using miScript Target Protectors SeqTarget long-range PCR primers for resequencing GHR
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GHR Predesigned siRNA for gene silencing in human, mouse, rat GHR
     QuantiFast Probe-based Assays in human, mouse, rat GHR QuantiTect SYBR Green Assays in human, mouse, rat GHR
     PCR Arrays including human, mouse, rat GHR Search Chromatin IP Primers for GHR
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat GHR  GeneGlobe Interaction Network for GHR
     Regulatory tfbs in GHR promoter
     GenScript Custom Purified and Recombinant Proteins Services for GHR GenScript cDNA clones with any tag delivered in your preferred vector for GHR
     GenScript Custom Assay Services for GHR GenScript Custom overexpressing Cell Line Services for GHR
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Search for Antibodies & Assays

     Search Tocris compounds for GHR
     Proteins for GHR
     Cell Lysates for GHR
     cDNA Clones for GHR
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     GHR antibodies
     GHR proteins
     Search for Antibodies for GHR at Abcam
     See all of Abcam's Antibodies, Kits and Proteins for GHR
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Recombinant Protein for GHR
     Proteins for GHR
     Antibodies for GHR
     ELISAs for GHR
     CLIAs for GHR



     Browse ESI BIO Cell Lines and PureStem Progenitors for GHR
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GHR
     SwitchGear 3'UTR luciferase reporter plasmids for GHR
     SwitchGear Promoter luciferase reporter plasmids for GHR
     ThermoFisher Antibodies for GHR
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GHR
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for GHR
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for GHR
     LSBio Antibodies in human, mouse, rat for GHR
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
     Browse compounds at ApexBio
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      GHR gene at Home site.
    Version: 3.12.142 28 July 2014
    hostname: 356980-web2.xennexinc.com index build: 126 solr: 1.4