GUCY2C Chromosome 12
Guanylate cyclase 2C
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What This Gene Does
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]
Gene Info
Gene Group
Transmembrane guanylate cyclases
Locus Type
gene with protein product
Location
12p12.3
Ensembl
ENSG00000070019
Associated Conditions (10)
Congenital diarrhea 6
Inborn genetic diseases
Congenital secretory diarrhea
chloride type
Meconium ileus
Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency
Abnormal biliary tract morphology
Asplenia
Duodenal atresia
Reduced number of intrahepatic bile ducts
Key Variants
RS138497004
Conflicting classifications of pathogenicity
Health Risk
RS1435086834
Conflicting classifications of pathogenicity
Congenital diarrhea 6, Inborn genetic diseases, Congenital diarrhea 6
Health Risk
RS147296490
Conflicting classifications of pathogenicity
Congenital secretory diarrhea, chloride type, Congenital secretory diarrhea
Health Risk
RS148946391
Conflicting classifications of pathogenicity
Meconium ileus, Meconium ileus
Health Risk
RS150939711
Conflicting classifications of pathogenicity
Health Risk
RS200500444
Conflicting classifications of pathogenicity
Health Risk
RS34890806
Conflicting classifications of pathogenicity
Inborn genetic diseases, Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency, Congenital diarrhea 6
Health Risk
RS375918996
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS551796026
Conflicting classifications of pathogenicity
Congenital diarrhea 6, Meconium ileus, Congenital diarrhea 6
Health Risk
RS562942379
Conflicting classifications of pathogenicity
Congenital diarrhea 6, Meconium ileus, Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency
Health Risk
RS747192873
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS760164631
Conflicting classifications of pathogenicity
Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency, Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency
Health Risk
All Variants (26)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS138497004 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1435086834 | Health Risk | Conflicting classifications of pathogenicity | Congenital diarrhea 6, Inborn genetic diseases, Congenital diarrhea 6 |
| RS147296490 | Health Risk | Conflicting classifications of pathogenicity | Congenital secretory diarrhea, chloride type, Congenital secretory diarrhea |
| RS148946391 | Health Risk | Conflicting classifications of pathogenicity | Meconium ileus, Meconium ileus |
| RS150939711 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200500444 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS34890806 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency, Congenital diarrhea 6 |
| RS375918996 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS551796026 | Health Risk | Conflicting classifications of pathogenicity | Congenital diarrhea 6, Meconium ileus, Congenital diarrhea 6 |
| RS562942379 | Health Risk | Conflicting classifications of pathogenicity | Congenital diarrhea 6, Meconium ileus, Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency |
| RS747192873 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS760164631 | Health Risk | Conflicting classifications of pathogenicity | Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency, Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency |
| RS762829348 | Health Risk | Conflicting classifications of pathogenicity | Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency, Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency |
| RS771612876 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS771787305 | Health Risk | Conflicting classifications of pathogenicity | Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency, Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency |
| RS895214647 | Health Risk | Conflicting classifications of pathogenicity | Meconium ileus, Meconium ileus |
| RS1451730099 | Health Risk | Likely pathogenic | Meconium ileus, Meconium ileus |
| RS1948507281 | Health Risk | Likely pathogenic | — |
| RS2497633967 | Health Risk | Likely pathogenic | Congenital diarrhea 6, Congenital diarrhea 6 |
| RS1057519441 | Health Risk | Pathogenic | Abnormal biliary tract morphology, Asplenia, Duodenal atresia |
| RS1947001391 | Health Risk | Pathogenic | — |
| RS1947002584 | Health Risk | Pathogenic | Congenital diarrhea 6, Congenital diarrhea 6 |
| RS587776871 | Health Risk | Pathogenic | Congenital diarrhea 6, Congenital diarrhea 6 |
| RS587776905 | Health Risk | Pathogenic | Meconium ileus, Meconium ileus |
| RS587784573 | Health Risk | Pathogenic | Meconium ileus, Meconium ileus |
| RS730880325 | Health Risk | Pathogenic | Meconium ileus, Meconium ileus |