VENTX
Chr 10VENT homeobox
Also known as: HPX42B, NA88A, VENTX2
The protein is a homeodomain transcription factor that functions as a transcriptional repressor involved in mesodermal patterning and hematopoietic stem cell maintenance. Mutations cause autosomal dominant neurodevelopmental disorder with seizures, microcephaly, cortical malformations, and dysmorphic facies. This gene is not highly constrained against loss-of-function variants, suggesting complete loss of function may be tolerated.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
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
VENTX · 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