GUCY2C

Chr 12ADAR

guanylate cyclase 2C

Also known as: DIAR6, GC-C, GCC, GUC2C, HSER, MECIL, MUCIL, STAR

NCBI Gene: 2984 ENSG00000070019 UniProt: P25092 OMIM: 601330

This protein is a transmembrane guanylyl cyclase that synthesizes cyclic GMP from GTP and serves as a receptor for endogenous peptides guanylin and uroguanylin. Mutations cause familial diarrhea with autosomal dominant inheritance and meconium ileus with autosomal recessive inheritance. The gene shows tolerance to loss-of-function variants (LOEUF 1.079), suggesting different mutation types may underlie the distinct clinical presentations and inheritance patterns.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt

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]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Diarrhea 6MIM #614616

Meconium ileusMIM #614665

Clinical highlights

Interpreting a novel variant

Curated mechanisms (Gene2Phenotype) include both loss of function and gain of function. Which applies is variant-dependent — do not assume a null variant is, or isn’t, the pathogenic class without checking the specific variant.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.08

LOEUF

Multiple*

Mechanism· G2P

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GeneReview available — GUCY2C