FAF2
Chr 5Fas associated factor family member 2
Also known as: ETEA, UBXD8, UBXN3B
The FAF2 protein mediates endoplasmic reticulum-associated degradation of misfolded proteins, regulates insulin-like growth factor receptor signaling, inhibits lipid droplet degradation, and promotes stress granule disassembly. Mutations cause autosomal recessive neurodevelopmental disorder with progressive microcephaly, seizures, and brain atrophy. This gene is highly constrained against loss-of-function variants, indicating that such mutations are typically pathogenic.
Some data sources returned errors (1)
omim: Error: OMIM fetch failed: 429
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Moderately missense-constrained (top ~2.5%)
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
FAF2 · 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