GUCA2B
Guanylate Cyclase Activator 2B (Uroguanylin)
Gene Information Card
| Symbol | GUCA2B |
|---|---|
| Full Name | Guanylate Cyclase Activator 2B |
| Gene Type | Protein coding |
| Chromosomal Location | 1p33-p32 |
| NCBI Gene ID | 2981 ncbi.nlm.nih.gov/gene/2981 |
| Ensembl ID | ENSG00000144036 |
| UniProt ID | Q16661 |
| OMIM ID | 601271 |
| HGNC ID | 4683 |
| Aliases | UGN, UROGUANYLIN, GCAP-II |
Description
GUCA2B encodes uroguanylin, a prepropeptide that is cleaved to produce the active peptide uroguanylin. Uroguanylin is secreted by intestinal epithelial cells and acts as an endogenous ligand for guanylate cyclase C (GUCY2C). Binding to GUCY2C activates cGMP production, regulating fluid and electrolyte homeostasis in the intestine. The gene is also expressed in kidney and other tissues, where it may influence renal sodium excretion.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Familial diarrhea (GUCY2C gain-of-function) | Uroguanylin overactivation of GC-C leads to increased cGMP and chloride secretion | PMID: 22850735 |
| Colorectal cancer | GUCA2B expression is frequently silenced by promoter hypermethylation; loss of uroguanylin contributes to tumor progression | PMID: 19258504 |
| Meconium ileus in cystic fibrosis | Reduced uroguanylin activity may exacerbate intestinal obstruction | PMID: 10601279 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Small intestine | 123.4 | High |
| Colon | 89.2 | High |
| Kidney | 15.6 | Low |
| Stomach | 8.3 | Low |
| Pancreas | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Caco-2 | 45.7 | Colorectal adenocarcinoma cell line |
| HT-29 | 38.2 | Colorectal adenocarcinoma cell line |
| HCT 116 | 12.5 | Colorectal carcinoma cell line |
| HEK 293 | 0.3 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Loss of start codon; predicted loss of function |
| c.152C>T (p.Pro51Leu) | Missense | <0.01% | Unknown significance; rare population variant |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in GUCA2B are rare and may reduce uroguanylin activity, potentially contributing to intestinal dysmotility or tumorigenesis.
Gain of Function (GOF)
No confirmed gain-of-function mutations in GUCA2B; however, gain-of-function in its receptor GUCY2C causes familial diarrhea.
Dominant Negative (DN)
No dominant-negative mutations reported for GUCA2B.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Guanylate cyclase signaling pathway (Reactome: R-HSA-418555)
• cGMP-mediated signaling (KEGG: hsa04022)
Protein Summary
Uroguanylin is a 16-amino acid active peptide derived from the GUCA2B proprotein. It contains two disulfide bonds forming a structural motif critical for binding to guanylate cyclase C. The peptide is heat-stable and resistant to proteolysis in the intestinal lumen. Uroguanylin regulates intestinal fluid secretion and electrolyte balance, and its expression is often lost in colorectal cancer due to epigenetic silencing.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GUCA2B Knockout HEK293 Cell Line | EDJ-KQ4821 | Human | 2981 | Details Get a Quote |
| GUCA2B Knockout A-549 Cell Line | EDJ-KQ27603 | Human | 2981 | Details Get a Quote |
| GUCA2B Knockout HeLa Cell Line | EDJ-KQ53459 | Human | 2981 | Details Get a Quote |
| GUCA2B Knockout HCT 116 Cell Line | EDJ-KQ70412 | Human | 2981 | Details Get a Quote |
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