GHSR (Ghrelin Receptor)
Growth Hormone Secretagogue Receptor Gene
Gene Information Card
| Symbol | GHSR |
|---|---|
| Full Name | Growth Hormone Secretagogue Receptor |
| Gene Type | protein-coding |
| Chromosomal Location | 3q26.31 |
| NCBI Gene ID | 2693 ncbi.nlm.nih.gov/gene/2693 |
| Ensembl ID | ENSG00000121853 |
| UniProt ID | Q92847 |
| OMIM ID | 601898 |
| HGNC ID | 4267 |
| Aliases | GHS-R, ghrelin receptor |
Description
The GHSR gene encodes the growth hormone secretagogue receptor, a G-protein coupled receptor that binds ghrelin, a hormone involved in growth hormone release, appetite regulation, and energy homeostasis. Mutations in GHSR are associated with obesity and isolated growth hormone deficiency.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Obesity | Loss-of-function mutations reduce ghrelin signaling, altering appetite and energy balance. | ClinVar, OMIM #601898 |
| Isolated Growth Hormone Deficiency (IGHD) | Impaired receptor activation leads to reduced growth hormone secretion. | OMIM #601898, NCBI Gene |
| Short Stature | Homozygous or compound heterozygous mutations disrupt growth hormone axis. | ClinVar, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (hypothalamus) | 12.5 | Medium |
| Pituitary gland | 8.3 | Low |
| Stomach | 2.1 | Not detected |
| Pancreas | 1.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 10.2 | Neuronal model |
| HEK293 (embryonic kidney) | 0.8 | Low endogenous expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.247G>A (p.Ala83Thr) | Missense | 0.01% | Reduced receptor activity; associated with obesity |
| c.1061C>T (p.Pro354Leu) | Missense | 0.005% | Loss of function; linked to short stature |
| c.1A>G (p.Met1Val) | Start loss | <0.001% | Complete loss of function; severe IGHD |
Mutation functional classification
Loss of Function (LOF)
Most GHSR mutations reduce or abolish ghrelin binding or signal transduction, leading to obesity or growth hormone deficiency.
Gain of Function (GOF)
Not reported in GHSR.
Dominant Negative (DN)
Not documented for GHSR.
View complete mutation data：
Gene Ontology (GO)
| • G protein-coupled receptor activity | • ghrelin receptor activity |
| • positive regulation of growth hormone secretion | • appetite regulation |
| • energy homeostasis |
Pathways
• Ghrelin signaling pathway
• GPCR downstream signaling
• Growth hormone secretion pathway
Protein Summary
The ghrelin receptor (GHSR) is a 366-amino acid GPCR with seven transmembrane domains. It is primarily expressed in the hypothalamus and pituitary, mediating ghrelin's effects on growth hormone release and appetite. The receptor couples to Gq/11 and Gs proteins, activating phospholipase C and cAMP pathways.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GHSR Knockout HEK293 Cell Line | EDJ-KQ1797 | Human | 2693 | Details Get a Quote |
| GHSR Knockout HeLa Cell Line | EDJ-KQ53340 | Human | 2693 | Details Get a Quote |
| GHSR Knockout A-549 Cell Line | EDJ-KQ61820 | Human | 2693 | Details Get a Quote |
| GHSR Knockout HCT 116 Cell Line | EDJ-KQ70307 | Human | 2693 | Details Get a Quote |
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