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] |