ZFPM2
Chr 8ADzinc finger protein, FOG family member 2
Also known as: DIH3, FOG2, PRDM19, SRXY9, ZC2HC11B, ZNF89B, hFOG-2
This gene encodes a zinc finger transcription factor that acts as an essential cofactor for GATA family proteins, regulating genes critical for heart development and gonadal differentiation. Mutations cause autosomal dominant conditions including tetralogy of Fallot, diaphragmatic hernia, and 46,XY sex reversal, affecting cardiac, pulmonary, and reproductive development. The gene is highly constrained against loss-of-function variants (pLI >0.99), indicating that most protein-disrupting variants are likely pathogenic.
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
ZFPM2 · 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