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

Gene ID: 14600, updated on 2-Nov-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, Nov 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
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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 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 IDA
Inferred from Direct Assay
more info
PubMed 
involved_in growth hormone receptor signaling pathway ISO
Inferred from Sequence Orthology
more info
 
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 peptidyl-tyrosine phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
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)

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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)

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.