ZBTB47
Chr 3zinc finger and BTB domain containing 47
Also known as: ZNF651
ZBTB47 encodes a DNA-binding transcription factor that regulates gene transcription by RNA polymerase II in the nucleus. This gene is extremely intolerant to loss-of-function variants, but no specific Mendelian diseases have been definitively associated with ZBTB47 mutations in current clinical literature. The high constraint scores suggest that mutations in this gene may cause developmental or neurological phenotypes, but further research is needed to establish clear genotype-phenotype correlations.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Among the most LoF-intolerant genes (~top 3%)
Moderately missense-constrained (top ~2.5%)
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
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
184 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 | 1 | 6 | 0 | 7 |
Likely Pathogenic | 0 | 0 | 1 | 0 | 1 |
VUS | 5 | 137 | 5 | 0 | 147 |
Likely Benign | 0 | 9 | 1 | 5 | 15 |
Benign | 0 | 0 | 0 | 1 | 1 |
Conflicting | — | 3 | |||
| Total | 5 | 147 | 13 | 6 | 174 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
ZBTB47 · 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 →No open access results found
External Resources
Links to major genomics databases and tools