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

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_004963.3:c.2008G>ALebanonchr12:14641142PathogenicPathogenicMeconium IleusNG_052021.1:g.60444G>A; NM_004963.3:c.2008G>A; NP_004954.2:p.Ala670Thr587784572161158
NM_004963.3:c.2782T>CLebanonchr12:14619304 PathogenicPathogenicMeconium IleusNG_052021.1:g.82282T>C; NM_004963.3:c.2782T>C; NP_004954.2:p.Cys928Arg587784573161159
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