GUCA2A

Chr 1

guanylate cyclase activator 2A

Also known as: GCAP-I, GUCA2, STARA

The protein functions as an endogenous activator of intestinal guanylate cyclase, stimulating the enzyme through the same receptor binding region as heat-stable enterotoxins. Based on available databases, no well-established Mendelian diseases have been definitively linked to GUCA2A mutations in humans. The gene shows moderate tolerance to loss-of-function variants (pLI = 0.29, LOEUF = 1.21), suggesting it may not be essential for normal development.

OMIMResearchSummary from RefSeq, UniProt
LOEUF 1.21
Clinical SummaryGUCA2A
Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.26) despite low pLI — interpret in context.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint
1.21LOEUF
pLI 0.287
Z-score 1.34
OE 0.26 (0.091.21)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
-1.07Z-score
OE missense 1.38 (1.161.65)
86 obs / 62.2 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE0.26 (0.091.21)
00.351.4
Missense OE1.38 (1.161.65)
00.61.4
Synonymous OE1.27
01.21.6
LoF obs/exp: 1 / 3.8Missense obs/exp: 86 / 62.2Syn Z: -1.11

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

GUCA2A · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC