ZBED1
Chr Yzinc finger BED-type containing 1
Also known as: ALTE, DREF, TRAMP, hDREF
ZBED1 encodes a transcription factor and SUMO E3 ligase that promotes cell proliferation by binding to promoter regions and activating transcription of genes including histones and ribosomal proteins. The gene is located in the pseudoautosomal region of the X and Y chromosomes and is not highly constrained against loss-of-function variants. Pathogenic variants in ZBED1 have not been definitively associated with human disease.
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
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
ZBED1 · 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