GHRH
Growth Hormone Releasing Hormone
Gene Information Card
| Symbol | GHRH |
|---|---|
| Full Name | growth hormone releasing hormone |
| Gene Type | protein-coding |
| Chromosomal Location | 20q11.23 |
| NCBI Gene ID | 2691 ncbi.nlm.nih.gov/gene/2691 |
| Ensembl ID | ENSG00000101276 |
| UniProt ID | P01286 |
| OMIM ID | 139190 |
| HGNC ID | 4265 |
| Aliases | GRF, GHRF, somatocrinin |
Description
The GHRH gene encodes growth hormone releasing hormone (GHRH), also known as somatocrinin. GHRH is a 44-amino acid peptide hormone produced by the hypothalamus that stimulates the synthesis and release of growth hormone (GH) from the anterior pituitary. It plays a critical role in growth regulation and metabolism.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Isolated growth hormone deficiency (IGHD) | Loss-of-function mutations in GHRH impair GH secretion, leading to short stature. | OMIM #139190 |
| Acromegaly | Ectopic GHRH secretion from tumors (e.g., carcinoid) causes excessive GH release. | ClinVar, NCBI |
| GHRH-producing tumors | Overexpression of GHRH in neuroendocrine tumors leads to acromegaly. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Hypothalamus | 12.5 | High |
| Placenta | 3.2 | Low |
| Testis | 1.8 | Low |
| Pancreas | 0.9 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 5.1 | Neuronal model |
| HeLa (cervical carcinoma) | 0.3 | Low expression |
| HepG2 (hepatocellular carcinoma) | 0.1 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.211C>T (p.Arg71Ter) | Nonsense | Rare | Loss of function; truncates protein |
| c.1A>G (p.Met1?) | Missense | Rare | Loss of function; start codon loss |
| c.173G>A (p.Arg58His) | Missense | Rare | Loss of function; reduced activity |
Mutation functional classification
Loss of Function (LOF)
Mutations in GHRH cause isolated growth hormone deficiency (IGHD) by impairing hormone secretion or receptor binding.
Gain of Function (GOF)
Not reported; gain-of-function mutations are not associated with GHRH.
Dominant Negative (DN)
Not reported; GHRH mutations are typically recessive.
View complete mutation data：
Gene Ontology (GO)
| • hormone activity (GO:0005179) | • extracellular region (GO:0005576) |
| • cell-cell signaling (GO:0007267) | • neuropeptide hormone activity (GO:0030250) |
| • metal ion binding (GO:0046872) |
Pathways
• Growth hormone synthesis
• secretion and action (Reactome: R-HSA-163359)
• Neuroactive ligand-receptor interaction (KEGG: hsa04080)
Protein Summary
GHRH is a 44-amino acid peptide hormone (UniProt P01286) synthesized in the hypothalamus. It binds to the GHRH receptor (GHRHR) on pituitary somatotrophs, activating cAMP/PKA signaling to stimulate GH secretion. The protein is processed from a 108-residue preprohormone.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GHRHR Knockout HEK293 Cell Line | EDJ-KQ3390 | Human | 2692 | Details Get a Quote |
| GHRH Knockout HEK293 Cell Line | EDJ-KQ50300 | Human | 2691 | Details Get a Quote |
| GHRH Knockout HeLa Cell Line | EDJ-KQ53338 | Human | 2691 | Details Get a Quote |
| GHRHR Knockout HeLa Cell Line | EDJ-KQ53339 | Human | 2692 | Details Get a Quote |
| GHRH Knockout A-549 Cell Line | EDJ-KQ61818 | Human | 2691 | Details Get a Quote |
| GHRHR Knockout A-549 Cell Line | EDJ-KQ61819 | Human | 2692 | Details Get a Quote |
| GHRH Knockout HCT 116 Cell Line | EDJ-KQ70305 | Human | 2691 | Details Get a Quote |
| GHRHR Knockout HCT 116 Cell Line | EDJ-KQ70306 | Human | 2692 | Details Get a Quote |
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