GUCY2C
Domain
The protein kinase domain is predicted to be catalytically inactive.
Function
Guanylyl cyclase that catalyzes synthesis of cyclic GMP (cGMP) from GTP (PubMed:11950846, PubMed:1718270, PubMed:22436048, PubMed:22521417, PubMed:23269669). Receptor for the E.coli heat-stable enterotoxin; E.coli enterotoxin markedly stimulates the accumulation of cGMP in mammalian cells expressing GUCY2C (PubMed:1680854, PubMed:1718270). Also activated by the endogenous peptides guanylin and uroguanylin (PubMed:8381596).
Involvement in disease
Diarrhea 6
DIAR6
A relatively mild, early-onset chronic diarrhea that may be associated with increased susceptibility to inflammatory bowel disease, small bowel obstruction, and esophagitis.
None
The disease is caused by variants affecting the gene represented in this entry.
Meconium ileus
MECIL
A condition characterized by intestinal obstruction due to inspissated meconium in the distal ileum and cecum, which develops in utero and presents shortly after birth as a failure to pass meconium. Meconium ileus is a known clinical manifestation of cystic fibrosis.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Glycosylation at Asn-75 and/or Asn-79 is required for interaction with VIP36 while glycosylation at Asn-345 and Asn-402 modulates ligand-mediated GUCY2C activation.
Sequence Similarities
Belongs to the adenylyl cyclase class-4/guanylyl cyclase family.
Cellular localization
- Cell membrane
- Single-pass type I membrane protein
- Endoplasmic reticulum membrane
- Single-pass type I membrane protein
- The 145 kDa plasma membrane form of GUCY2C contains sialic acid and galactose residues, while a differencially glycosylated 130 Kda form is a high mannose form that is resident in the endoplasmic reticulum and may serve as the precursor for the cell surface form.
Alternative names
GUC2C, STAR, GUCY2C, Guanylyl cyclase C, GC-C, Heat-stable enterotoxin receptor, Intestinal guanylate cyclase, STA receptor, hSTAR