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TFF3

Synonyms
ITF, P1B, TFI
External resources
Summary
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 is expressed in goblet cells of the intestines and colon. This gene and two other related trefoil family member genes are found in a cluster on chromosome 21.

Variant Counts

Variant classification counts, according to ACMG guideline on all identified variants among our tested samples, are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc.) are excluded.

Pathogenic
17
Likely pathogenic
0
VUS
728
Likely benign
33
Benign
0

Patient Phenotypes

Proportions of phenotypes among 17 patients carrying pathogenic or likely pathogenic variants on TFF3 gene are displayed below. The following symptoms were found in patients with a variant in TFF3. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
41.2%
Abnormality of head or neck
23.5%
Abnormality of blood and blood forming tissues
17.6%
Abnormality of the cardiovascular system
17.6%
Abnormality of the eye
17.6%
Abnormality of the immune system
17.6%
Abnormality of the musculoskeletal system
17.6%
Abnormality of the digestive system
11.8%
Abnormality of the ear
11.8%
Abnormality of the genitourinary system
11.8%
Abnormality of prenatal development or birth
5.9%
Abnormality of the respiratory system
5.9%
Growth abnormality
5.9%
Neoplasm
5.9%
Abnormal cellular phenotype
0%
Abnormality of limbs
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the integument
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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