HIVEP2
Chr 6ADHIVEP zinc finger 2
Also known as: HIV-EP2, MBP-2, MIBP1, MRD43, SHN2, ZAS2, ZNF40B
This gene encodes a large zinc finger transcription factor that regulates gene expression by binding to regulatory regions of cellular and viral genes involved in growth and development. Loss-of-function mutations cause autosomal dominant intellectual developmental disorder. The gene is highly intolerant to loss-of-function variation, consistent with haploinsufficiency as the pathogenic mechanism.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Among the most LoF-intolerant genes (~top 3%)
Mild missense constraint
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Literature Evidence
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
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
HIVEP2 · 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
External Resources
Links to major genomics databases and tools