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

Gene ID: 14600, updated on 13-Jan-2025

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 via JAK-STAT 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, Jan 2025]
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
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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

General gene information

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables SH2 domain binding  
enables cytokine binding  
enables growth factor binding  
enables growth hormone receptor activity  
enables growth hormone receptor activity PubMed 
enables growth hormone receptor activity  
enables identical protein binding  
enables lipid binding  
enables peptide hormone binding  
enables peptide hormone binding PubMed 
enables peptide hormone binding  
enables protein binding PubMed 
enables protein homodimerization activity  
enables protein kinase binding  
enables protein phosphatase binding  
Process Evidence Code Pubs
involved_in cell surface receptor signaling pathway via JAK-STAT  
involved_in cellular response to hormone stimulus  
involved_in cytokine-mediated signaling pathway  
involved_in cytokine-mediated signaling pathway  
involved_in endocytosis  
involved_in growth hormone receptor signaling pathway  
involved_in growth hormone receptor signaling pathway  
involved_in growth hormone receptor signaling pathway via JAK-STAT PubMed 
involved_in hormone metabolic process  
involved_in hormone-mediated signaling pathway  
involved_in insulin-like growth factor receptor signaling pathway  
involved_in positive regulation of cell population proliferation  
involved_in positive regulation of multicellular organism growth  
involved_in positive regulation of receptor signaling pathway via JAK-STAT  
involved_in positive regulation of receptor signaling pathway via JAK-STAT  
involved_in receptor internalization  
involved_in regulation of multicellular organism growth PubMed 
involved_in regulation of response to nutrient levels  
involved_in response to cycloheximide  
involved_in response to estradiol  
acts_upstream_of_positive_effect taurine metabolic process PubMed 
Component Evidence Code Pubs
located_in cell surface  
located_in cytoplasmic ribonucleoprotein granule  
is_active_in cytosol  
located_in cytosol  
is_active_in external side of plasma membrane  
located_in extracellular region  
located_in extracellular space PubMed 
located_in extracellular space  
part_of growth hormone receptor complex  
part_of growth hormone receptor complex  
located_in membrane PubMed 
located_in membrane  
located_in neuronal cell body  
located_in nucleus PubMed 
located_in plasma membrane PubMed 
located_in plasma membrane  
located_in plasma membrane  
part_of receptor complex  

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)

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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

    See identical proteins and their annotated locations for NP_001041643.1

    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

    See identical proteins and their annotated locations for NP_001273299.1

    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

    See identical proteins and their annotated locations for NP_034414.2

    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)

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