ZHX2
Chr 8zinc fingers and homeoboxes 2
Also known as: AFR1, RAF
ZHX2 encodes a nuclear transcriptional repressor containing zinc fingers and homeobox DNA-binding domains that regulates gene expression during neural and retinal development, particularly promoting bipolar OFF-type cell differentiation in the retina and maintaining neural progenitor cells in the developing cortex. Mutations in ZHX2 cause neurodevelopmental disorders with autosomal dominant inheritance. The gene shows moderate constraint against loss-of-function variants (LOEUF = 0.518), suggesting some tolerance to protein-truncating mutations.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
ZHX2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
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