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TGIF2

Synonyms
-
External resources
Summary
The protein encoded by this gene is a DNA-binding homeobox protein and a transcriptional repressor, which appears to repress transcription by recruiting histone deacetylases to TGF beta-responsive genes. This gene is amplified and over-expressed in some ovarian cancers. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 1. Read-through transcription also exists between this gene and the neighboring downstream C20orf24 (chromosome 20 open reading frame 24) gene.

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
3
Likely pathogenic
0
VUS
156
Likely benign
2
Benign
0

Patient Phenotypes

Proportions of phenotypes among 3 patients carrying pathogenic or likely pathogenic variants on TGIF2 gene are displayed below. The following symptoms were found in patients with a variant in TGIF2. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of head or neck
66.7%
Abnormality of the digestive system
66.7%
Abnormality of the ear
66.7%
Abnormality of the nervous system
66.7%
Growth abnormality
66.7%
Abnormality of the cardiovascular system
33.3%
Abnormality of the eye
33.3%
Abnormality of the musculoskeletal system
33.3%
Abnormal cellular phenotype
0%
Abnormality of blood and blood forming tissues
0%
Abnormality of limbs
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the genitourinary system
0%
Abnormality of the immune system
0%
Abnormality of the integument
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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