GTF2F2
Chr 13general transcription factor IIF subunit 2
Also known as: BTF4, RAP30, TF2F2, TFIIF
The protein functions as part of the TFIIF complex, a general transcription initiation factor that binds to RNA polymerase II and helps recruit it to the initiation complex for gene transcription. Mutations in GTF2F2 cause neurodevelopmental disorder with seizures and brain atrophy, inherited in an autosomal recessive pattern. The gene is not highly constrained against loss-of-function variants, which is consistent with the recessive inheritance pattern observed in affected patients.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
GTF2F2 · 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