TFF2
Chr 21trefoil factor 2
Also known as: SML1, SP
The TFF2 protein inhibits gastric acid secretion and gastrointestinal motility, and functions as a structural component of gastric mucus by stabilizing glycoproteins in the mucus gel. This gene is highly tolerant to loss-of-function variants, and no established disease associations with TFF2 mutations have been reported in the clinical literature. The gene encodes a trefoil family protein that is part of the gastrointestinal mucosal protective system.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
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
115 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 81 | 0 | 81 |
Likely Pathogenic | 0 | 0 | 3 | 0 | 3 |
VUS | 0 | 15 | 8 | 0 | 23 |
Likely Benign | 0 | 3 | 2 | 0 | 5 |
Benign | 0 | 1 | 0 | 1 | 2 |
Conflicting | — | 1 | |||
| Total | 0 | 19 | 94 | 1 | 115 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
TFF2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
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