TFF1

Chr 21

trefoil factor 1

Also known as: BCEI, D21S21, HP1.A, HPS2, pNR-2, pS2

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. This gene, which is expressed in the gastric mucosa, has also been studied because of its expression in human tumors. 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…
2
Active trials
54
Pubs (1 yr)
P/LP submissions
P/LP missense
1.91
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.91LOEUF
pLI 0.001
Z-score -0.45
OE 1.28 (0.581.91)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.13Z-score
OE missense 1.05 (0.851.31)
57 obs / 54.2 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.28 (0.581.91)
00.351.4
Missense OE?1.05 (0.851.31)
00.61.4
Synonymous OE?1.06
01.21.6
LoF obs/exp: 4 / 3.1Missense obs/exp: 57 / 54.2Syn Z: -0.24

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

TFF1 · protein map & ClinVar variants

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