Guanylate cyclase 2C

Last updated
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
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
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

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]

Contents

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.

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000070019 Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000042638 Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. "Entrez Gene: guanylate cyclase 2C (heat stable enterotoxin receptor)".
  6. Mann EA, Swenson ES, Copeland NG, Gilbert DJ, Jenkins NA, Taguchi T, Testa JR, Giannella RA (June 1996). "Localization of the guanylyl cyclase C gene to mouse chromosome 6 and human chromosome 12p12". Genomics. 34 (2): 265–7. doi:10.1006/geno.1996.0284. PMID   8661067.
  7. Intestinal Protein May Have Role in ADHD, Other Neurological Disorders. ScienceDaily (Aug. 11, 2011)
  8. Weiglmeier PR, Rösch P, Berkner H (August 2010). "Cure and Curse: E. coli Heat-Stable Enterotoxin and Its Receptor Guanylyl Cyclase C". Toxins. 2 (9): 2213–2229. doi: 10.3390/toxins2092213 . PMC   3153297 . PMID   22069681.

Further reading