Aliases for GUCY2C Gene
External Ids for GUCY2C Gene
Previous HGNC Symbols for GUCY2C Gene
Previous GeneCards Identifiers for GUCY2C Gene
This gene encodes a transmembrane protein that functions as a receptor for endogenous peptides guanylin and uroguanylin, and the heat-stable E. coli enterotoxin. The encoded protein activates the cystic fibrosis transmembrane conductance regulator. Mutations in this gene are associated with familial diarrhea (autosomal dominant) and meconium ileus (autosomal recessive). [provided by RefSeq, Nov 2016]
GeneCards Summary for GUCY2C Gene
GUCY2C (Guanylate Cyclase 2C) is a Protein Coding gene. Diseases associated with GUCY2C include Meconium Ileus and Diarrhea 6. Among its related pathways are G-Beta Gamma Signaling and Uptake and actions of bacterial toxins. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein tyrosine kinase activity. An important paralog of this gene is NPR2.
UniProtKB/Swiss-Prot Summary for GUCY2C Gene
Receptor for the E.coli heat-stable enterotoxin (E.coli enterotoxin markedly stimulates the accumulation of cGMP in mammalian cells expressing GC-C). Also activated by the endogenous peptides guanylin and uroguanylin.