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    Ghr growth hormone receptor [ Mus musculus (house mouse) ]

    Gene ID: 14600, updated on 9-Dec-2024

    Summary

    Official Symbol
    Ghrprovided by MGI
    Official Full Name
    growth hormone receptorprovided by MGI
    Primary source
    MGI:MGI:95708
    See related
    Ensembl:ENSMUSG00000055737 AllianceGenome:MGI:95708
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    GHBP; GHR/BP
    Summary
    Enables growth hormone receptor activity and peptide hormone binding activity. Involved in growth hormone receptor signaling pathway; positive regulation of peptidyl-tyrosine phosphorylation; and regulation of growth. Acts upstream of with a positive effect on taurine metabolic process. Located in nucleus and plasma membrane. Is expressed in several structures, including alimentary system; brain; early conceptus; genitourinary system; and integumental system. Used to study Laron syndrome. Human ortholog(s) of this gene implicated in several diseases, including Laron syndrome; familial hypercholesterolemia; isolated growth hormone deficiency; osteoarthritis; and type 2 diabetes mellitus. Orthologous to human GHR (growth hormone receptor). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in subcutaneous fat pad adult (RPKM 66.2), genital fat pad adult (RPKM 39.4) and 12 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See Ghr in Genome Data Viewer
    Location:
    15 A1; 15 1.84 cM
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 15 NC_000081.7 (3347237..3612834, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 15 NC_000081.6 (3317755..3583352, complement)

    Chromosome 15 - NC_000081.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_37813 Neighboring gene predicted gene, 30057 Neighboring gene selenoprotein P Neighboring gene coiled-coil domain containing 152 Neighboring gene predicted gene, 41254 Neighboring gene Ghr downstream L1 promoter region Neighboring gene Ghr upstream L2 promoter region Neighboring gene predicted gene, 22031 Neighboring gene predicted gene, 41255

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables SH2 domain binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables cytokine binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables growth factor binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables growth hormone receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables growth hormone receptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables growth hormone receptor activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables identical protein binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables lipid binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables peptide hormone binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables peptide hormone binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables peptide hormone binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein homodimerization activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables protein kinase binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables protein phosphatase binding ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    involved_in cell surface receptor signaling pathway via JAK-STAT ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in cellular response to hormone stimulus ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in cytokine-mediated signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cytokine-mediated signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in endocytosis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in growth hormone receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in growth hormone receptor signaling pathway ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in growth hormone receptor signaling pathway via JAK-STAT IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in hormone metabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in hormone-mediated signaling pathway ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in insulin-like growth factor receptor signaling pathway ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of cell population proliferation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of multicellular organism growth ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of receptor signaling pathway via JAK-STAT IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of receptor signaling pathway via JAK-STAT ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in receptor internalization ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in regulation of multicellular organism growth IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of response to nutrient levels ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in response to cycloheximide ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in response to estradiol ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_positive_effect taurine metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cell surface ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cytoplasmic ribonucleoprotein granule ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in external side of plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in extracellular region TAS
    Traceable Author Statement
    more info
     
    located_in extracellular space HDA PubMed 
    located_in extracellular space ISO
    Inferred from Sequence Orthology
    more info
     
    part_of growth hormone receptor complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of growth hormone receptor complex ISO
    Inferred from Sequence Orthology
    more info
     
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in neuronal cell body ISO
    Inferred from Sequence Orthology
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    part_of receptor complex ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    growth hormone receptor
    Names
    GH receptor
    Growth hormone receptor precursor (GH receptor) (GH binding protein) (GHBP) (Serum binding protein)
    growth hormone receptor/binding protein, high molecular weight
    growth hormone receptor/binding protein, low molecular weight
    somatotropin receptor

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001048178.2NP_001041643.1  growth hormone receptor isoform 2 precursor

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks several exons and uses an alternate 3'-terminal exon, compared to variant 1. The encoded isoform (2) has a shorter and distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AC113323, AC121307, AK143925, AK148440
      Consensus CDS
      CCDS37024.1
      UniProtKB/Swiss-Prot
      P16882
      UniProtKB/TrEMBL
      Q3UNY8
      Related
      ENSMUSP00000106326.3, ENSMUST00000110698.9
      Conserved Domains (2) summary
      cd00063
      Location:157258
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      cl21522
      Location:49135
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    2. NM_001286370.1NP_001273299.1  growth hormone receptor isoform 1 precursor

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR, compared to variant 1. Both variants 1 and 4 encode the same isoform (1).
      Source sequence(s)
      AC166491, AK143886
      Consensus CDS
      CCDS27358.1
      UniProtKB/TrEMBL
      Q3UNY8, Q3UP14
      Related
      ENSMUSP00000124064.2, ENSMUST00000161561.8
      Conserved Domains (3) summary
      cd00063
      Location:157258
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      pfam12772
      Location:325628
      GHBP; Growth hormone receptor binding
      cl21522
      Location:49135
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    3. NM_010284.3NP_034414.2  growth hormone receptor isoform 1 precursor

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1). Both variants 1 and 4 encode the same isoform.
      Source sequence(s)
      AC113323, AC166491, AK143925, AK148440
      Consensus CDS
      CCDS27358.1
      UniProtKB/TrEMBL
      Q3UNY8, Q3UP14
      Related
      ENSMUSP00000069457.5, ENSMUST00000069451.11
      Conserved Domains (3) summary
      cd00063
      Location:157258
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      pfam12772
      Location:325628
      GHBP; Growth hormone receptor binding
      cl21522
      Location:49135
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000081.7 Reference GRCm39 C57BL/6J

      Range
      3347237..3612834 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001048147.1: Suppressed sequence

      Description
      NM_001048147.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript.