Aliases for FAF2 Gene
External Ids for FAF2 Gene
Previous HGNC Symbols for FAF2 Gene
Previous GeneCards Identifiers for FAF2 Gene
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]
GeneCards Summary for FAF2 Gene
FAF2 (Fas Associated Factor Family Member 2) is a Protein Coding gene. Diseases associated with FAF2 include Dermatitis and Neuronopathy, Distal Hereditary Motor, Type Viii. Among its related pathways are Innate Immune System and Glucose / Energy Metabolism. Gene Ontology (GO) annotations related to this gene include ubiquitin protein ligase binding and lipase inhibitor activity. An important paralog of this gene is FAF1.
UniProtKB/Swiss-Prot Summary for FAF2 Gene
Plays an important role in endoplasmic reticulum-associated degradation (ERAD) that mediates ubiquitin-dependent degradation of misfolded endoplasmic reticulum proteins (PubMed:18711132, PubMed:24215460). By controlling the steady-state expression of the IGF1R receptor, indirectly regulates the insulin-like growth factor receptor signaling pathway (PubMed:26692333). Involved in inhibition of lipid droplet degradation by binding to phospholipase PNPL2 and inhibiting its activity by promoting dissociation of PNPL2 from its endogenous activator, ABHD5 which inhibits the rate of triacylglycerol hydrolysis (PubMed:23297223).