GUCY2C (Entrez ID: 2984)

Entrez Gene ID 2984
Official Gene Symbol GUCY2C (GeneCards)
Full name guanylate cyclase 2C
Location 12p12.3
Other ids Vega : OTTHUMG00000168732
MIM : 601330
HGNC : HGNC:4688
Ensembl : ENSG00000070019
Other names GC-C, STAR, DIAR6, GUC2C, MECIL, MUCIL
Summary 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]

Variants

Found 3 variants in this database.