GAST (Gastrin)
Gene encoding the hormone gastrin, a key regulator of gastric acid secretion and gastrointestinal cell growth.
Gene Information Card
| Symbol | GAST |
|---|---|
| Full Name | gastrin |
| Gene Type | protein-coding |
| Chromosomal Location | 17q21.2 |
| NCBI Gene ID | 2520 ncbi.nlm.nih.gov/gene/2520 |
| Ensembl ID | ENSG00000184502 |
| UniProt ID | P01350 |
| OMIM ID | 137250 |
| HGNC ID | 4164 |
| Aliases | GAS, gastrin-34, gastrin-17, big gastrin, little gastrin |
Description
The GAST gene encodes the hormone gastrin, a peptide hormone primarily produced by G cells in the gastric antrum and duodenum. Gastrin stimulates gastric acid secretion by parietal cells and promotes growth of the gastric mucosa. It is synthesized as a precursor (preprogastrin) that is processed into multiple bioactive forms, including gastrin-34 and gastrin-17. Dysregulation of GAST expression is implicated in hypergastrinemic states such as Zollinger-Ellison syndrome and chronic atrophic gastritis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Zollinger-Ellison syndrome | Ectopic or excessive gastrin secretion from gastrinomas leads to severe peptic ulcer disease and gastric acid hypersecretion. | OMIM #131100; ClinVar; multiple case reports |
| Gastrinoma (pancreatic neuroendocrine tumor) | Neoplastic G cells produce unregulated gastrin, causing hypergastrinemia. | COSMIC; OMIM |
| Hypergastrinemia (secondary) | Atrophic gastritis or proton pump inhibitor use leads to elevated gastrin due to loss of acid feedback inhibition. | ClinVar; literature |
| Gastric adenocarcinoma (risk modifier) | Chronic hypergastrinemia may promote gastric enterochromaffin-like (ECL) cell hyperplasia and neoplasia. | NCBI Gene; COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Stomach (antrum) | High | High |
| Duodenum | Medium | Medium |
| Pancreas | Low | Low |
| Colon | Not detected | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Gastric G cells (primary) | High | Primary source of gastrin |
| AR42J (rat pancreatic acinar) | Not applicable | Rat model; not human |
| BON-1 (human carcinoid) | Medium | Neuroendocrine cell line; used in gastrin studies |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | Rare | Likely loss of function; associated with reduced gastrin levels |
| c.79C>T (p.Arg27*) | nonsense | Rare | Premature stop; loss of function |
| c.208G>A (p.Glu70Lys) | missense | Rare | Unknown significance; reported in ClinVar |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated gastrin peptide; reduced hormone activity.
Gain of Function (GOF)
Not well documented; gain-of-function mutations are not a known mechanism for GAST.
Dominant Negative (DN)
Not reported for GAST.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Gastrin-CREB signaling pathway (Reactome: R-HSA-416476)
• Gastrin-mediated regulation of gastric acid secretion (KEGG: hsa04971)
Protein Summary
Gastrin is a 101-amino-acid preproprotein that undergoes proteolytic processing to yield active peptides, primarily gastrin-34 and gastrin-17. These peptides bind to the cholecystokinin B receptor (CCKBR) on parietal cells and ECL cells, stimulating acid secretion and histamine release. Gastrin also exerts trophic effects on the gastric mucosa. The protein is stored in secretory granules and released upon food intake, particularly in response to amino acids and peptides.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GAST Knockout HEK293 Cell Line | EDJ-KQ3752 | Human | 2520 | Details Get a Quote |
| GAST Knockout HeLa Cell Line | EDJ-KQ53274 | Human | 2520 | Details Get a Quote |
| GAST Knockout A-549 Cell Line | EDJ-KQ61756 | Human | 2520 | Details Get a Quote |
| GAST Knockout HCT 116 Cell Line | EDJ-KQ70240 | Human | 2520 | Details Get a Quote |
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