GUCY2C (NM_004963) - guanylate cyclase 2C
Heat-Stable Enterotoxin Receptor Precursor
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Protein
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PTM Interaction Network Visualisation
Protein summary
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].
Publication Note:
This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications.
Evidence data:
Transcript exon combination :: M73489.1, S57551.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350]
- Strand
- -
- Chromosome
- 12
- Protein
- 1073 residues
- All mutations
- 194
- PTM sites
- 14
- CDS
- 14,766,050 - 14,849,382
- Transcription
- 14,765,567 - 14,849,519
Usage summary
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PTM site
Kinases group
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Kinase, PTM site or protein
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