GUCY2C gene

guanylate cyclase 2C

The information on this page was automatically extracted from online scientific databases.

From NCBI 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]

From UniProt:

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.

From NCBI Gene:

  • Meconium ileus
  • Diarrhea 6

From UniProt:

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. [MIM:614616]

Meconium ileus (MECIL): A condition characterized by a 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. [MIM:614665]

Cytogenetic Location: 12p12.3, which is the short (p) arm of chromosome 12 at position 12.3

Molecular Location: base pairs 14,612,632 to 14,696,625 on chromosome 12 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 12p12.3, which is the short (p) arm of chromosome 12 at position 12.3
  • DIAR6
  • GC-C
  • GUC2C
  • MECIL
  • MUCIL
  • STAR