Guanylate Cyclase 2C

Alternative Names

  • GUCY2C
  • Guanylyl Cyclase 2C
  • GUC2C
  • Heat-Stable Enterotoxin Receptor

Associated Diseases

Meconium Ileus
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OMIM Number

601330

NCBI Gene ID

2984

Uniprot ID

P25092

Length

83,987 bases

No. of Exons

27

No. of isoforms

1

Protein Name

Heat-Stable Enterotoxin Receptor

Molecular Mass

123403 Da

Amino Acid Count

1073

Genomic Location

chr12:14,612,632-14,696,618

Gene Map Locus
12p12.3

Description

The GUCY2C gene encodes a transmembrane receptor protein with guanylate cyclase activity. Mutations in the gene have been associated with diarrhea and meconium ileus. 

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinical SignificanceCondition(s)HGVS ExpressionsdbSNPClinvar
NM_004963.3:c.2008G>ALebanonchr12:14641142PathogenicMeconium IleusNG_052021.1:g.60444G>A; NM_004963.3:c.2008G>A; NP_004954.2:p.Ala670Thr587784572161158
NM_004963.3:c.2782T>CLebanonchr12:14619304 PathogenicMeconium IleusNG_052021.1:g.82282T>C; NM_004963.3:c.2782T>C; NP_004954.2:p.Cys928Arg587784573161159
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