Version: 8.0.0Date: Tue Jan 28 2025
Gene
GHR
- Species
- Homo sapiens
- Symbol
- GHR
- Name
- growth hormone receptor
- Synonyms
- GH receptor
- GHBP
- Biotype
- protein coding gene
- Automated Description
- Enables several functions, including growth hormone receptor activity; peptide hormone binding activity; and protein homodimerization activity. Involved in several processes, including cell surface receptor protein tyrosine kinase signaling pathway; response to cycloheximide; and response to estradiol. Located in several cellular components, including cell surface; cytoplasmic ribonucleoprotein granule; and extracellular space. Part of growth hormone receptor complex. Is active in plasma membrane. Implicated in several diseases, including Laron syndrome; familial hypercholesterolemia; isolated growth hormone deficiency; osteoarthritis; and type 2 diabetes mellitus. Biomarker of Laron syndrome; breast cancer; and type 1 diabetes mellitus.
- RGD Description
- 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]
- Cross References
- Additional Information
- Literature
Orthology
- Gene tree
- PANTHER:PTHR23037
Links to orthology data in JBrowse by filter level: Stringent, Moderate, No filter, Best and Best Reverse
Phenotypes
- Primary Sources
- None
- Other Sources
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Disease Associations
Cases where the expected disease association was NOT found
Cell color indicative of annotation volume
No data available
Alleles and Variants
Allele/Variant Symbol | Allele Synonyms | Category | Variant | Variant type | Molecular consequence | Has Disease Annotations | Has Phenotype Annotations |
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Transgenic Alleles
Species (carrying the transgene) | Allele symbol | Transgenic construct | Expressed components | Knock-down targets | Regulatory regions | Has Disease Annotations | Has Phenotype Annotations |
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Models
Model name | Experimental condition | Associated Human Diseases | Associated Phenotypes | Modifier | Source |
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Sequence Feature Viewer
- Genome location
- Chr5:42423439...42721878 + (298.44 kb)
- Assembly version
- GRCh38
- Viewer Help
Data currently unavailable; sequence viewer under construction
Expression
- Primary Sources
- None
- Other Sources
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.