TBL1Y
Chr YYLtransducin beta like 1 Y-linked
Also known as: DFNY2, TBL1
The protein is an F-box-like protein that recruits the ubiquitin/19S proteasome complex to nuclear receptor-regulated transcription units and plays an essential role in transcription activation by mediating proteasomal degradation of transcription repressor complexes. Mutations cause Y-linked deafness type 2, which follows Y-linked inheritance (passed from father to son). The gene shows low constraint against loss-of-function variants.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
TBL1Y · 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