GHR growth hormone receptor
Gene ID: 2690, updated on 2-Nov-2024Gene type: protein coding
Also known as: GHBP; GHIP
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- Go to complete Gene record for GHR
- Go to Variation Viewer for GHR variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Association of systemic lupus erythematosus with C8orf13-BLK and ITGAM-ITGAX. GeneReviews: Not available | |
| Genetic association with overall survival of taxane-treated lung cancer patients - A genome-wide association study in human lymphoblastoid cell lines followed by a clinical association study. GeneReviews: Not available | |
| Hypercholesterolemia, familial, 1 | not available |
| Laron-type isolated somatotropin defect | not available |
| Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci. GeneReviews: Not available | |
| Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche. GeneReviews: Not available | |
| Short stature due to partial GHR deficiency | not available |
| Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels. GeneReviews: Not available |
Genomic context
- Location:
- 5p13.1-p12
- Sequence:
- Chromosome: 5; NC_000005.10 (42423439..42721878)
- Total number of exons:
- 18
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for GHR variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- LOVD - Growth Consortium
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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