TCF20
Chr 22ADtranscription factor 20
Also known as: AR1, DDVIBA, SPBP, TCF-20
TCF20 encodes a transcriptional coactivator that recognizes the platelet-derived growth factor-responsive element in the matrix metalloproteinase 3 promoter and enhances the activity of transcription factors including JUN and SP1. Loss-of-function mutations cause autosomal dominant developmental delay with variable intellectual impairment and behavioral abnormalities, including autism spectrum disorders. The gene is highly intolerant to loss-of-function variants, consistent with haploinsufficiency as the underlying disease mechanism.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Among the most LoF-intolerant genes (~top 3%)
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. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
TCF20 · 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
External Resources
Links to major genomics databases and tools