ZFAND5
Chr 9zinc finger AN1-type containing 5
Also known as: ZA20D2, ZFAND5A, ZNF216
This protein anchors ubiquitinated proteins to the proteasome for degradation and regulates NF-kappa-B signaling and apoptosis. The gene is highly constrained against loss-of-function variants (pLI=0.85, LOEUF=0.45), suggesting mutations would likely cause developmental disorders, though no specific disease associations have been established yet. Clinical presentations would likely involve multiple organ systems given the protein's fundamental role in cellular protein degradation pathways.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
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
ZFAND5 · 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