GUCA2B
Chr 1guanylate cyclase activator 2B
Also known as: GCAP-II, UGN
The protein encoded by this gene is processed to generate uroguanylin, an endogenous activator of intestinal guanylate cyclase that regulates fluid and electrolyte transport in the intestine and kidneys by stimulating cyclic GMP production. Mutations in GUCA2B cause autosomal recessive meconium ileus, a neonatal intestinal obstruction disorder affecting newborns. The gene shows moderate tolerance to loss-of-function variants with relatively high constraint metrics.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
The highest-scoring mechanism for this gene is gain-of-function.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
GUCA2B · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools