FAF2

Chr 5

Fas associated factor family member 2

Also known as: ETEA, UBXD8, UBXN3B

NCBI Gene: 23197 ENSG00000113194 UniProt: Q96CS3 OMIM: 616935

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.

OMIM ResearchSummary from RefSeq, UniProt

The protein encoded by this gene is highly expressed in peripheral blood of patients with atopic dermatitis (AD), compared to normal individuals. It may play a role in regulating the resistance to apoptosis that is observed in T cells and eosinophils of AD patients. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.22

LOEUF· LoF intol.

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Mechanism