TGIF1
Chr 18ADTGFB induced factor homeobox 1
Also known as: HPE4, TGIF
TGIF1 encodes a homeodomain transcription factor that represses retinoid X receptor signaling and SMAD2-mediated transcription, playing a critical role in forebrain development and ventral midline formation. Mutations cause holoprosencephaly type 4, a structural brain malformation affecting midline forebrain development, with autosomal dominant inheritance. The gene is not highly constrained against loss-of-function variants, consistent with its role in a dominant developmental disorder.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Literature Evidence
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
TGIF1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools