About   Help   FAQ
Ghr Gene Detail
Summary
  • Symbol
    Ghr
  • Name
    growth hormone receptor
  • Synonyms
    GHBP, GHR/BP
  • Feature Type
    protein coding gene
  • IDs
    MGI:95708
    NCBI Gene: 14600
Location & Maps
more
  • Sequence Map
    Chr15:3317760-3583492 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      265733 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    GHR, growth hormone receptor
  • Vertebrate Orthologs
    10
  • Human Ortholog
    GHR, growth hormone receptor
    Orthology source: HomoloGene
  • Synonyms
    GHBP, GHIP
  • Links
    NCBI Gene ID: 2690
    neXtProt AC: NX_P10912

  • Chr Location
    5p13-p12; chr5:42423775-42721878 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Ghr mouse models; 3 with human GHR associations

Human Disease Mouse Models
       Laron Syndrome   OMIM: 262500 View 2 models
       Growth Hormone Receptor; GHR   OMIM: 600946
Hypercholesterolemia, Familial   OMIM: 143890
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    140 phenotypes from 10 alleles in 12 genetic backgrounds
    8 phenotypes from multigenic genotypes
    2 images
    97 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    13
  • Chemically induced (ENU)
    1
  • Targeted
    12
  • Incidental Mutations
Homozygotes for targeted null mutations exhibit retarded postnatal growth, proportionate dwarfism, decreased plasma insulin-like growth factor I levels, small pituitaries, reduced fecundity in females, and extended life-span.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000030599 VEGA Gene Model | MGI Sequence Detail 265733 C57BL/6J ±  kb
transcript OTTMUST00000075775 VEGA | MGI Sequence Detail 2749 Not Applicable  
polypeptide OTTMUSP00000039787 VEGA | MGI Sequence Detail 650 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    780 from dbSNP Build 137
  • RFLP
Protein
Information
less
  • UniProt
    4 Sequences
  • Protein Ontology
    PR:000007970 growth hormone receptor
  • InterPro Domains
    IPR003961 Fibronectin type III
    IPR025871 Growth hormone-binding protein
    IPR015152 Growth hormone/erythropoietin receptor, ligand binding
    IPR013783 Immunoglobulin-like fold
    IPR003528 Long hematopoietin receptor, single chain, conserved site
Molecular
Reagents
less
  • All nucleic 149
    Genomic 5
    cDNA 137
    Primer pair 3
    Other 4

    Microarray probesets 6
Other
Accession IDs
less
MGD-MRK-10070, MGI:2145937
References
more
  • Summaries
    All 183
    Developmental Gene Expression 16
    Diseases 3
    Gene Ontology 10
    Phenotypes 97
  • Earliest
    J:7060 Herington AC, et al., Hepatic binding of human and bovine growth hormones and ovine prolactin in the dwarf little mouse. Endocrinology. 1983 Jun;112(6):2032-8
  • Latest
    J:220762 Dominick G, et al., Regulation of mTOR activity in Snell dwarf and GH receptor gene-disrupted mice. Endocrinology. 2015 Feb;156(2):565-75

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
02/02/2016
MGI 6.02
The Jackson Laboratory