YY2
Chr XYY2 transcription factor
Also known as: ZNF631
YY2 encodes a transcription factor containing Kruppel-like zinc fingers that regulates gene expression through both activation and repression domains. Mutations cause autosomal dominant neurodevelopmental disorders with intellectual disability and developmental delay. The gene shows moderate tolerance to loss-of-function variants, suggesting variable penetrance or severity may occur in some cases.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
ClinVar Variant Classifications
105 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 | 0 | 62 | 0 | 62 |
Likely Pathogenic | 0 | 0 | 2 | 0 | 2 |
VUS | 0 | 26 | 6 | 0 | 32 |
Likely Benign | 0 | 8 | 0 | 1 | 9 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 0 | 34 | 70 | 1 | 105 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
YY2 · 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