GUCY2C guanylate cyclase 2C

Gene ID: 2984, updated on 17-Jun-2024
Gene type: protein coding
Also known as: GCC; GC-C; HSER; STAR; DIAR6; GUC2C; MECIL; MUCIL

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]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Congenital diarrhea 6 MedGen: C3553270OMIM: 614616GeneReviews: Not available	See labs
Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency MedGen: C4518781OMIM: 614665GeneReviews: Not available	See labs

Copy number response

Description
Copy number response Haploinsufficency No evidence available (Last evaluated 2013-09-18) ClinGen Genome Curation Page Triplosensitivity No evidence available (Last evaluated 2013-09-18) ClinGen Genome Curation Page

Genomic context

Location:: 12p12.3

Sequence:: Chromosome: 12; NC_000012.12 (14612632..14696599, complement)

Total number of exons:: 27

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for GUCY2C variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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