CCK (Cholecystokinin) Gene
A key neuropeptide hormone gene involved in digestion, satiety, and neurotransmission
Gene Information Card
| Symbol | CCK |
|---|---|
| Full Name | Cholecystokinin |
| Gene Type | protein-coding |
| Chromosomal Location | 3p22.1 |
| NCBI Gene ID | 885 ncbi.nlm.nih.gov/gene/885 |
| Ensembl ID | ENSG00000187094 |
| UniProt ID | P06307 |
| OMIM ID | 118440 |
| HGNC ID | 1568 |
| Aliases | CCK-PZ, MGC117187 |
Description
The CCK gene encodes cholecystokinin, a peptide hormone primarily produced by I-cells in the duodenal mucosa and by neurons in the central and peripheral nervous systems. Cholecystokinin stimulates gallbladder contraction, pancreatic enzyme secretion, and regulates satiety and anxiety. It acts through two G-protein-coupled receptors, CCKAR and CCKBR.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Pancreatic insufficiency | Reduced CCK secretion impairs pancreatic enzyme release | PMID: 2476907 |
| Gallbladder dyskinesia | Altered CCK signaling leads to impaired gallbladder contraction | PMID: 1686079 |
| Anxiety disorders | CCK receptor polymorphisms associated with panic disorder | PMID: 10667476 |
| Obesity | CCK deficiency or resistance contributes to hyperphagia | PMID: 11440890 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Duodenum | 112.5 | High |
| Brain (cerebral cortex) | 45.2 | Medium |
| Stomach | 30.1 | Medium |
| Pancreas | 8.7 | Low |
| Liver | 2.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Caco-2 (intestinal) | 15.4 | Enterocyte-like expression |
| SH-SY5Y (neuronal) | 22.1 | Neuroblastoma line |
| HepG2 (hepatic) | 1.2 | Minimal expression |
| MIA PaCa-2 (pancreatic) | 6.8 | Pancreatic cancer line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.215C>T (p.Pro72Leu) | Missense | <0.01% | Reduced peptide stability |
| c.1A>G (p.Met1Val) | Start loss | <0.01% | Loss of protein expression |
| c.320_321insA | Frameshift | <0.01% | Premature truncation |
Mutation functional classification
Loss of Function (LOF)
Frameshift and start-loss mutations lead to absent or non-functional cholecystokinin peptide.
Gain of Function (GOF)
No gain-of-function mutations reported in CCK.
Dominant Negative (DN)
No dominant-negative mutations described for CCK.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Cholecystokinin receptor signaling pathway (Reactome: R-HSA-420092)
• Gastrin-CKBR signaling (KEGG: hsa04976)
• Neuropeptide signaling (WikiPathways: WP4754)
Protein Summary
Cholecystokinin (CCK) is a 115-amino-acid preproprotein that is proteolytically processed to generate multiple bioactive peptides, including CCK-58, CCK-33, and CCK-8. The mature peptides contain a sulfated tyrosine residue essential for receptor binding. CCK acts via CCK1R (CCKAR) and CCK2R (CCKBR) to regulate digestion, satiety, and neurotransmission.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CCKAR Knockout HEK293 Cell Line | EDJ-KQ1606 | Human | 886 | Details Get a Quote |
| CCKBR Knockout HEK293 Cell Line | EDJ-KQ1607 | Human | 887 | Details Get a Quote |
| CCK Knockout HEK293 Cell Line | EDJ-KQ2496 | Human | 885 | Details Get a Quote |
| CCK Knockout HeLa Cell Line | EDJ-KQ52801 | Human | 885 | Details Get a Quote |
| CCKAR Knockout HeLa Cell Line | EDJ-KQ52802 | Human | 886 | Details Get a Quote |
| CCKBR Knockout HeLa Cell Line | EDJ-KQ52803 | Human | 887 | Details Get a Quote |
| CCK Knockout A-549 Cell Line | EDJ-KQ61272 | Human | 885 | Details Get a Quote |
| CCKAR Knockout A-549 Cell Line | EDJ-KQ61273 | Human | 886 | Details Get a Quote |
| CCKBR Knockout A-549 Cell Line | EDJ-KQ61274 | Human | 887 | Details Get a Quote |
| CCK Knockout HCT 116 Cell Line | EDJ-KQ69767 | Human | 885 | Details Get a Quote |
| CCKAR Knockout HCT 116 Cell Line | EDJ-KQ69768 | Human | 886 | Details Get a Quote |
| CCKBR Knockout HCT 116 Cell Line | EDJ-KQ69769 | Human | 887 | Details Get a Quote |
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