GHRHR (Growth Hormone Releasing Hormone Receptor)
Key regulator of growth hormone synthesis and secretion; mutations cause isolated growth hormone deficiency.
Gene Information Card
| Symbol | GHRHR |
|---|---|
| Full Name | Growth Hormone Releasing Hormone Receptor |
| Gene Type | protein-coding |
| Chromosomal Location | 7p14.3 |
| NCBI Gene ID | 2692 ncbi.nlm.nih.gov/gene/2692 |
| Ensembl ID | ENSG00000106128 |
| UniProt ID | P02686 |
| OMIM ID | 139191 |
| HGNC ID | 4268 |
| Aliases | GHRH-R, GRFR, IGHD2 |
Description
The GHRHR gene encodes the growth hormone releasing hormone receptor, a G protein-coupled receptor primarily expressed in the anterior pituitary. Binding of GHRH stimulates cAMP-dependent signaling, leading to synthesis and secretion of growth hormone. Loss-of-function mutations cause isolated growth hormone deficiency type II (IGHD II), characterized by short stature and delayed development.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Isolated Growth Hormone Deficiency Type II (IGHD II) | Loss-of-function mutations impair GHRH binding or receptor signaling, reducing GH secretion. | ClinVar, OMIM |
| Short Stature (idiopathic) | Heterozygous variants with partial loss of function may contribute to milder growth impairment. | ClinVar, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Pituitary | 12.5 | High |
| Pancreas | 1.2 | Low |
| Testis | 0.8 | Low |
| Adrenal gland | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 0.1 | Not expressed |
| HepG2 | 0.2 | Not expressed |
| MCF7 | 0.3 | Not expressed |
| Pituitary adenoma cells | 15.0 | High expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.57+1G>A | Splice site | Rare (0.01%) | Loss of function – exon skipping, truncated protein |
| p.Glu72* | Nonsense | Rare | Loss of function – premature stop, no functional receptor |
| p.Arg137Cys | Missense | Rare | Loss of function – impaired ligand binding |
| p.Leu144His | Missense | Rare | Loss of function – defective signaling |
Mutation functional classification
Loss of Function (LOF)
Most reported GHRHR mutations are loss-of-function, leading to reduced GH secretion and IGHD II.
Gain of Function (GOF)
No gain-of-function mutations have been described in GHRHR.
Dominant Negative (DN)
Some heterozygous missense variants may exert dominant-negative effects by disrupting receptor dimerization.
View complete mutation data：
Gene Ontology (GO)
| • G protein-coupled receptor activity | • growth hormone-releasing hormone receptor activity |
| • adenylate cyclase-activating G protein-coupled receptor signaling pathway | • positive regulation of growth hormone secretion |
| • plasma membrane |
Pathways
• GHRH signaling pathway (Reactome: R-HSA-163615)
• GPCR downstream signaling (Reactome: R-HSA-388396)
• cAMP-mediated signaling (KEGG: map04024)
Protein Summary
The GHRHR protein is a 423-amino acid seven-transmembrane GPCR. Upon GHRH binding, it activates Gs alpha, increasing intracellular cAMP and stimulating GH release. The receptor is critical for somatotroph function; defects cause growth hormone deficiency.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GHRHR Knockout HEK293 Cell Line | EDJ-KQ3390 | Human | 2692 | Details Get a Quote |
| GHRHR Knockout HeLa Cell Line | EDJ-KQ53339 | Human | 2692 | Details Get a Quote |
| GHRHR Knockout A-549 Cell Line | EDJ-KQ61819 | Human | 2692 | Details Get a Quote |
| GHRHR Knockout HCT 116 Cell Line | EDJ-KQ70306 | Human | 2692 | Details Get a Quote |
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