GHR Chromosome 5
Growth hormone receptor
Upload your DNA to see your personal genotypes for variants in GHR.
What This Gene Does
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]
Gene Info
Gene Group
Fibronectin type III domain containing
Locus Type
gene with protein product
Location
5p13.1-p12
Ensembl
ENSG00000112964
Associated Conditions (16)
Short stature due to partial GHR deficiency
Growth hormone insensitivity syndrome
Laron-type isolated somatotropin defect
Short stature due to growth hormone secretagogue receptor deficiency
Hypercholesterolemia
familial
1
GHR-related disorder
Monogenic short statue
Inborn genetic diseases
7 conditions
Sarcoma
Hepatocellular carcinoma
See cases
Laron syndrome with undetectable serum GH-binding protein
Laron syndrome with elevated serum GH-binding protein
Key Variants
RS114025919
Conflicting classifications of pathogenicity
Health Risk
RS121909361
Conflicting classifications of pathogenicity
Short stature due to partial GHR deficiency, Growth hormone insensitivity syndrome, Short stature due to partial GHR deficiency
Health Risk
RS121909362
Conflicting classifications of pathogenicity
Short stature due to partial GHR deficiency, Laron-type isolated somatotropin defect, Short stature due to growth hormone secretagogue receptor deficiency
Health Risk
RS121909366
Conflicting classifications of pathogenicity
Laron-type isolated somatotropin defect, Monogenic short statue, Laron-type isolated somatotropin defect
Health Risk
RS121909367
Conflicting classifications of pathogenicity
Laron-type isolated somatotropin defect, Laron-type isolated somatotropin defect
Health Risk
RS121909373
Conflicting classifications of pathogenicity
Laron-type isolated somatotropin defect, Laron-type isolated somatotropin defect
Health Risk
RS1260870046
Conflicting classifications of pathogenicity
Laron-type isolated somatotropin defect, Laron-type isolated somatotropin defect
Health Risk
RS138491809
Conflicting classifications of pathogenicity
Laron-type isolated somatotropin defect, Laron-type isolated somatotropin defect
Health Risk
RS140501920
Conflicting classifications of pathogenicity
Health Risk
RS143287692
Conflicting classifications of pathogenicity
Laron-type isolated somatotropin defect, Inborn genetic diseases, Laron-type isolated somatotropin defect
Health Risk
RS143814221
Conflicting classifications of pathogenicity
Laron-type isolated somatotropin defect, 7 conditions, Short stature due to partial GHR deficiency
Health Risk
RS145428904
Conflicting classifications of pathogenicity
Health Risk
All Variants (79)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS114025919 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS121909361 | Health Risk | Conflicting classifications of pathogenicity | Short stature due to partial GHR deficiency, Growth hormone insensitivity syndrome, Short stature due to partial GHR deficiency |
| RS121909362 | Health Risk | Conflicting classifications of pathogenicity | Short stature due to partial GHR deficiency, Laron-type isolated somatotropin defect, Short stature due to growth hormone secretagogue receptor deficiency |
| RS121909366 | Health Risk | Conflicting classifications of pathogenicity | Laron-type isolated somatotropin defect, Monogenic short statue, Laron-type isolated somatotropin defect |
| RS121909367 | Health Risk | Conflicting classifications of pathogenicity | Laron-type isolated somatotropin defect, Laron-type isolated somatotropin defect |
| RS121909373 | Health Risk | Conflicting classifications of pathogenicity | Laron-type isolated somatotropin defect, Laron-type isolated somatotropin defect |
| RS1260870046 | Health Risk | Conflicting classifications of pathogenicity | Laron-type isolated somatotropin defect, Laron-type isolated somatotropin defect |
| RS138491809 | Health Risk | Conflicting classifications of pathogenicity | Laron-type isolated somatotropin defect, Laron-type isolated somatotropin defect |
| RS140501920 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS143287692 | Health Risk | Conflicting classifications of pathogenicity | Laron-type isolated somatotropin defect, Inborn genetic diseases, Laron-type isolated somatotropin defect |
| RS143814221 | Health Risk | Conflicting classifications of pathogenicity | Laron-type isolated somatotropin defect, 7 conditions, Short stature due to partial GHR deficiency |
| RS145428904 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS146044217 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS148387362 | Health Risk | Conflicting classifications of pathogenicity | Laron-type isolated somatotropin defect, Laron-type isolated somatotropin defect |
| RS148677728 | Health Risk | Conflicting classifications of pathogenicity | Short stature due to partial GHR deficiency, Inborn genetic diseases, Short stature due to partial GHR deficiency |
| RS150075737 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS150584105 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS199960137 | Health Risk | Conflicting classifications of pathogenicity | Laron-type isolated somatotropin defect, Sarcoma, Laron-type isolated somatotropin defect |
| RS201032284 | Health Risk | Conflicting classifications of pathogenicity | Hypercholesterolemia, familial, 1 |
| RS201917287 | Health Risk | Conflicting classifications of pathogenicity | Laron-type isolated somatotropin defect, Laron-type isolated somatotropin defect |
| RS35040971 | Health Risk | Conflicting classifications of pathogenicity | Laron-type isolated somatotropin defect, Laron-type isolated somatotropin defect |
| RS367760905 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS371700718 | Health Risk | Conflicting classifications of pathogenicity | Laron-type isolated somatotropin defect, Laron-type isolated somatotropin defect |
| RS45588036 | Health Risk | Conflicting classifications of pathogenicity | Short stature due to partial GHR deficiency, Short stature due to partial GHR deficiency |
| RS533441671 | Health Risk | Conflicting classifications of pathogenicity | Laron-type isolated somatotropin defect, Laron-type isolated somatotropin defect |
| RS577421663 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS61758977 | Health Risk | Conflicting classifications of pathogenicity | GHR-related disorder, Inborn genetic diseases, GHR-related disorder |
| RS6177 | Health Risk | Conflicting classifications of pathogenicity | Short stature due to partial GHR deficiency, Laron-type isolated somatotropin defect, Hepatocellular carcinoma |
| RS6181 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS6413483 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS6413484 | Health Risk | Conflicting classifications of pathogenicity | Short stature due to partial GHR deficiency, Laron-type isolated somatotropin defect, Short stature due to partial GHR deficiency |
| RS75028043 | Health Risk | Conflicting classifications of pathogenicity | Laron-type isolated somatotropin defect, Laron-type isolated somatotropin defect |
| RS76183160 | Health Risk | Conflicting classifications of pathogenicity | Laron-type isolated somatotropin defect, Laron-type isolated somatotropin defect |
| RS773964952 | Health Risk | Conflicting classifications of pathogenicity | Laron-type isolated somatotropin defect, Laron-type isolated somatotropin defect |
| RS777688795 | Health Risk | Conflicting classifications of pathogenicity | See cases, See cases |
| RS121909365 | Health Risk | Likely pathogenic | Laron syndrome with undetectable serum GH-binding protein, Growth hormone insensitivity syndrome, Laron syndrome with undetectable serum GH-binding protein |
| RS1579636931 | Health Risk | Likely pathogenic | — |
| RS2111832452 | Health Risk | Likely pathogenic | See cases, See cases |
| RS2112477601 | Health Risk | Likely pathogenic | Laron-type isolated somatotropin defect, Laron-type isolated somatotropin defect |
| RS2530783457 | Health Risk | Likely pathogenic | Laron-type isolated somatotropin defect, Laron-type isolated somatotropin defect |
| RS1009412984 | Health Risk | Pathogenic | Laron-type isolated somatotropin defect, Laron-type isolated somatotropin defect |
| RS1060499692 | Health Risk | Pathogenic | Laron-type isolated somatotropin defect, Laron-type isolated somatotropin defect |
| RS1194378231 | Health Risk | Pathogenic | Laron-type isolated somatotropin defect, Growth hormone insensitivity syndrome, Laron-type isolated somatotropin defect |
| RS121909357 | Health Risk | Pathogenic | Laron-type isolated somatotropin defect, Laron-type isolated somatotropin defect |
| RS121909358 | Health Risk | Pathogenic | Laron-type isolated somatotropin defect, Hypercholesterolemia, familial |
| RS121909360 | Health Risk | Pathogenic | Laron-type isolated somatotropin defect, Hypercholesterolemia, familial |
| RS121909363 | Health Risk | Pathogenic | Laron-type isolated somatotropin defect, Hypercholesterolemia, familial |
| RS121909364 | Health Risk | Pathogenic | Laron syndrome with undetectable serum GH-binding protein, Laron syndrome with undetectable serum GH-binding protein |
| RS121909368 | Health Risk | Pathogenic | Laron-type isolated somatotropin defect, Laron-type isolated somatotropin defect |
| RS121909369 | Health Risk | Pathogenic | Laron-type isolated somatotropin defect, Laron-type isolated somatotropin defect |