Guanylate cyclase 2C

Guanylate cyclase 2C, also known as guanylyl cyclase C (GC-C), intestinal guanylate cyclase, guanylate cyclase-C receptor, or the heat-stable enterotoxin receptor (hSTAR) is an enzyme that in humans is encoded by the GUCY2C gene.^[5][6]

GUCY2C
Identifiers
Aliases	GUCY2C, DIAR6, GUC2C, MECIL, MUCIL, STAR, guanylate cyclase 2C, GC-C
External IDs	OMIM: 601330; MGI: 106903; HomoloGene: 3641; GeneCards: GUCY2C; OMA:GUCY2C - orthologs
Gene location (Human) Chr. Chromosome 12 (human)[1] Band 12p12.3 Start 14,612,632 bp[1] End 14,696,599 bp[1]
Gene location (Mouse) Chr. Chromosome 6 (mouse)[2] Band 6 G1|6 66.67 cM Start 136,674,282 bp[2] End 136,758,763 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in jejunal mucosa mucosa of sigmoid colon rectum duodenum mucosa of ileum mucosa of transverse colon testicle secondary oocyte epithelium of colon appendix Top expressed in jejunum colon duodenum ileum epithelium of small intestine intestinal villus Ileal epithelium lymph node crypt of lieberkuhn islet of Langerhans More reference expression data BioGPS n/a
Gene ontology Molecular function protein kinase activity nucleotide binding GTP binding protein binding lyase activity phosphorus-oxygen lyase activity ATP binding toxic substance binding guanylate cyclase activity adenylate cyclase activity peptide receptor activity Cellular component integral component of membrane endoplasmic reticulum membrane membrane endoplasmic reticulum guanylate cyclase complex, soluble plasma membrane Biological process intracellular signal transduction cyclic nucleotide biosynthetic process receptor guanylyl cyclase signaling pathway protein phosphorylation regulation of cell population proliferation response to toxic substance cGMP biosynthetic process digestion signal transduction Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 2984 14917 Ensembl ENSG00000070019 ENSMUSG00000042638 UniProt P25092 Q3UWA6 RefSeq (mRNA) NM_004963 NM_001127318 NM_145067 RefSeq (protein) NP_004954 NP_001120790 NP_659504 Location (UCSC) Chr 12: 14.61 – 14.7 Mb Chr 6: 136.67 – 136.76 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Guanylyl cyclase is an enzyme found in the luminal aspect of intestinal epithelium and dopamine neurons in the brain.^[7] The receptor has an extracellular ligand-binding domain, a single transmembrane region, a region with sequence similar to that of protein kinases, and a C-terminal guanylate cyclase domain. Tyrosine kinase activity mediates the GC-C signaling pathway within the cell.

Functions

GC-C is a key receptor for heat-stable enterotoxins that are responsible for acute secretory diarrhea.^[8] Heat-stable enterotoxins are produced by pathogens such as Escherichia coli. Knockout mice deficient in the GC-C gene do not show secretory diarrhea on infection with E. coli, though they do with cholera toxin. This demonstrates the specificity of the GC-C receptor.

In medicine

Guanylate cyclase 2C is the target of linaclotide and plecanatide, oligopeptide agonists used for the treatment of chronic constipation.