GUCY2C guanylate cyclase 2C
Gene ID: 2984, updated on 18-Sep-2024Gene type: protein coding
Also known as: GCC; GC-C; HSER; STAR; DIAR6; GUC2C; MECIL; MUCIL
- See all available tests in GTR for this gene
- Go to complete Gene record for GUCY2C
- Go to Variation Viewer for GUCY2C variants
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
Copy number response
Description |
---|
Copy number response Haploinsufficency No evidence available (Last evaluated 2013-09-18) ClinGen Genome Curation PageTriplosensitivity 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
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 |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.