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TGIF1

Synonyms
HPE4, TGIF
External resources
Summary
The protein encoded by this gene is a member of the three-amino acid loop extension (TALE) superclass of atypical homeodomains. TALE homeobox proteins are highly conserved transcription regulators. This particular homeodomain binds to a previously characterized retinoid X receptor responsive element from the cellular retinol-binding protein II promoter. In addition to its role in inhibiting 9-cis-retinoic acid-dependent RXR alpha transcription activation of the retinoic acid responsive element, the protein is an active transcriptional co-repressor of SMAD2 and may participate in the transmission of nuclear signals during development and in the adult. Mutations in this gene are associated with holoprosencephaly type 4, which is a structural anomaly of the brain. Alternative splicing has been observed at this locus and multiple splice variants encoding distinct isoforms are described.

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
5
Likely pathogenic
0
VUS
2,073
Likely benign
2,474
Benign
2,637

Patient Phenotypes

Proportions of phenotypes among 5 patients carrying pathogenic or likely pathogenic variants on TGIF1 gene are displayed below. The following symptoms were found in patients with a variant in TGIF1. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the endocrine system
40%
Abnormality of the genitourinary system
40%
Abnormality of the nervous system
40%
Abnormality of the cardiovascular system
20%
Abnormality of the digestive system
20%
Abnormality of the eye
20%
Abnormality of the immune system
20%
Abnormality of the integument
20%
Growth abnormality
20%
Neoplasm
20%
Abnormal cellular phenotype
0%
Abnormality of blood and blood forming tissues
0%
Abnormality of head or neck
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 ear
0%
Abnormality of the musculoskeletal system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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