TFF2

Chr 21

trefoil factor 2

Also known as: SML1, SP

NCBI Gene: 7032ENSG00000160181UniProt: Q03403OMIM: 182590

Members of the trefoil family are characterized by having at least one copy of the trefoil motif, a 40-amino acid domain that contains three conserved disulfides. They are stable secretory proteins expressed in gastrointestinal mucosa. Their functions are not defined, but they may protect the mucosa from insults, stabilize the mucus layer and affect healing of the epithelium. The encoded protein inhibits gastric acid secretion. This gene and two other related trefoil family member genes are found in a cluster on chromosome 21. [provided by RefSeq, Jul 2008]

OMIMResearchGenerating clinical summary…
0
Active trials
33
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.89
LOEUF
GOF
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.89LOEUF
pLI 0.000
Z-score -0.74
OE 1.30 (0.77–1.89)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.46Z-score
OE missense 0.85 (0.70–1.05)
67 obs / 78.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?1.30 (0.77–1.89)
0≤0.351.4
Missense OE?0.85 (0.70–1.05)
0≤0.61.4
Synonymous OE?0.93
0≤1.21.6
LoF obs/exp: 9 / 6.9Missense obs/exp: 67 / 78.5Syn Z: 0.34

ClinVar Variant Classifications

0 submitted variants in ClinVar

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.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients