Entity Details

Primary name GUCY2C
Entity type gene
Source Source Link

Details

PrimaryID2984
RefseqGeneNG_052021
SymbolGUCY2C
Nameguanylate cyclase 2C
Chromosome12
Location12p12.3
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-08-17
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsGUC2C_HUMAN

GO terms

Show/Hide Table
GOName
GO:0001653 peptide receptor activity
GO:0004383 guanylate cyclase activity
GO:0004672 protein kinase activity
GO:0005524 ATP binding
GO:0005525 GTP binding
GO:0005789 endoplasmic reticulum membrane
GO:0005886 plasma membrane
GO:0006182 cGMP biosynthetic process
GO:0007165 signal transduction
GO:0007168 receptor guanylyl cyclase signaling pathway
GO:0007586 digestion
GO:0009636 response to toxic substance
GO:0015643 toxic substance binding
GO:0016021 integral component of membrane
GO:0016941 natriuretic peptide receptor activity
GO:0017046 peptide hormone binding
GO:0035556 intracellular signal transduction
GO:0042127 regulation of cell population proliferation

Diseases

Show/Hide Table
Disease IDSourceNameDescription
614616 OMIMDiarrhea 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. The disease is caused by variants affecting the gene represented in this entry.
614665 OMIMMeconium 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. The disease is caused by variants affecting the gene represented in this entry.

Interactions

5 interactions