TEAD4
Chr 12TEA domain transcription factor 4
Also known as: EFTR-2, RTEF1, TCF13L1, TEF-3, TEF3, TEFR-1, hRTEF-1B
TEAD4 encodes a transcription factor that binds to regulatory elements in muscle-specific gene promoters and mediates gene expression in the Hippo signaling pathway, which controls cell proliferation and organ size. Mutations cause Sveinsson chorioretinal atrophy, an autosomal dominant progressive retinal degeneration typically presenting in adulthood with night blindness and visual field defects. The gene shows low constraint against loss-of-function variants, suggesting some tolerance to reduced function.
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 dominant-negative.
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
152 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 60 | 0 | 60 |
Likely Pathogenic | 0 | 0 | 3 | 0 | 3 |
VUS | 0 | 62 | 8 | 0 | 70 |
Likely Benign | 0 | 1 | 2 | 2 | 5 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 0 | 63 | 73 | 2 | 138 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
TEAD4 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
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