TGFB1I1
Chr 16transforming growth factor beta 1 induced transcript 1
Also known as: ARA55, HIC-5, HIC5, TSC-5
The protein functions as a molecular adapter coordinating protein interactions at focal adhesions and serves as a nuclear receptor coactivator regulating glucocorticoid, androgen, mineralocorticoid and progesterone receptor activity. Mutations cause autosomal dominant intellectual disability with variable features including developmental delay, behavioral abnormalities, and sometimes seizures or autism spectrum disorder. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.576), consistent with its role in neurodevelopment.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
This gene has evidence for multiple mechanisms of pathogenicity (gain-of-function and dominant-negative). Both the Badonyi & Marsh prediction and the broader genomic evidence point to gain-of-function as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
TGFB1I1 · 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