CCKBR Gene (Cholecystokinin B Receptor): Function, Expression, and Clinical Significance
A comprehensive biomedical overview of the CCKBR gene, encoding the cholecystokinin B receptor, including its genomic context, protein function, tissue expression, associated diseases, and mutation landscape.
Gene Information Card
| Symbol | CCKBR |
|---|---|
| Full Name | Cholecystokinin B receptor |
| Gene Type | protein coding |
| Chromosomal Location | 11p15.4 |
| NCBI Gene ID | 887 ncbi.nlm.nih.gov/gene/887 |
| Ensembl ID | ENSG00000110148 |
| UniProt ID | P32239 |
| OMIM ID | 118445 |
| HGNC ID | 1571 |
| Aliases | CCK2R, GASR, CCK-B, gastrin receptor |
Description
The CCKBR gene encodes the cholecystokinin B receptor (CCK2R), a G-protein coupled receptor (GPCR) for cholecystokinin (CCK) and gastrin. This receptor is a member of the rhodopsin-like family of GPCRs and plays a critical role in the regulation of gastric acid secretion, gastrointestinal motility, and cell growth. It is primarily expressed in the central nervous system and the gastrointestinal tract. Upon binding its ligands, the receptor activates intracellular signaling pathways, including the phospholipase C (PLC) and mitogen-activated protein kinase (MAPK) cascades. The CCKBR gene is implicated in various cancers, particularly gastric and pancreatic cancers, where its overexpression can promote tumor growth and proliferation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Gastric Cancer | Overexpression of CCKBR in gastric mucosa promotes cell proliferation and survival in response to gastrin, contributing to tumorigenesis. | Multiple studies show high CCKBR expression in gastric cancer tissues compared to normal tissue. (Source: NCBI Gene, PubMed literature) |
| Pancreatic Cancer | CCKBR activation by gastrin stimulates the growth of pancreatic cancer cells, potentially through autocrine/paracrine loops. | Expression of CCKBR is found in pancreatic cancer cell lines and tissues, and its activation promotes proliferation. (Source: NCBI Gene, PubMed literature) |
| Gastrointestinal Stromal Tumors (GIST) | CCKBR expression has been identified in a subset of GISTs, where it may contribute to tumor biology. | Gene expression profiling studies have detected CCKBR in GIST samples. (Source: NCBI Gene, PubMed literature) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 0.0 | Not detected |
| Stomach | 0.0 | Not detected |
| Small Intestine | 0.0 | Not detected |
| Colon | 0.0 | Not detected |
| Pancreas | 0.0 | Not detected |
| Liver | 0.0 | Not detected |
| Kidney | 0.0 | Not detected |
| Lung | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MKN-45 (Gastric Cancer) | 0.0 | Expression may be induced under specific conditions, but baseline is low. |
| BxPC-3 (Pancreatic Cancer) | 0.0 | Expression is low in standard culture conditions. |
| GIST882 (GIST) | 0.0 | Expression is low in standard culture conditions. |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1096C>T (p.Arg366Trp) | Single Nucleotide Variant (SNV) | Rare | This variant has been reported in ClinVar, but its clinical significance is uncertain. It may affect receptor function, but further studies are needed. |
| c.1255G>A (p.Val419Ile) | Single Nucleotide Variant (SNV) | Rare | Reported in ClinVar with uncertain significance. Potential impact on protein function is not established. |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in CCKBR are not well-documented in the literature. Given its role in promoting cell growth, a loss of function could theoretically reduce proliferative signals, but no specific pathogenic loss-of-function variants have been characterized.
Gain of Function (GOF)
Gain-of-function mutations are not commonly reported for CCKBR. However, overexpression of the wild-type receptor is a more frequent mechanism in cancer, leading to enhanced signaling.
Dominant Negative (DN)
No dominant-negative mutations have been described for the CCKBR gene.
View complete mutation data：
Gene Ontology (GO)
| • G protein-coupled receptor activity | • cholecystokinin receptor activity |
| • gastrin receptor activity | • peptide hormone binding |
| • plasma membrane | • integral component of plasma membrane |
| • G protein-coupled receptor signaling pathway | • phospholipase C-activating G protein-coupled receptor signaling pathway |
| • positive regulation of cell population proliferation | • response to peptide hormone |
Pathways
• GPCR downstream signalling
• Gastrin-CREB signalling pathway via PKC and MAPK
• Class A/1 (Rhodopsin-like receptors)
Protein Summary
The cholecystokinin B receptor (CCK2R) is a 447-amino acid protein that belongs to the G-protein coupled receptor 1 family. It is a multi-pass membrane protein localized to the plasma membrane. The receptor binds both cholecystokinin (CCK) and gastrin with high affinity. Activation of CCK2R stimulates the phosphatidylinositol-calcium second messenger system and activates the MAPK signaling pathway, leading to cellular proliferation and differentiation. It plays a key role in the regulation of gastric acid secretion and gastrointestinal motility. The protein is a target for drug development in conditions like gastric cancer and peptic ulcers.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CCKBR Knockout HEK293 Cell Line | EDJ-KQ1607 | Human | 887 | Details Get a Quote |
| CCKBR Knockout HeLa Cell Line | EDJ-KQ52803 | Human | 887 | Details Get a Quote |
| CCKBR Knockout A-549 Cell Line | EDJ-KQ61274 | Human | 887 | Details Get a Quote |
| CCKBR Knockout HCT 116 Cell Line | EDJ-KQ69769 | Human | 887 | Details Get a Quote |
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