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FLASH GENE
Symbol FAF2 contributors: mct/pgu - updated : 29-01-2014
HGNC name Fas associated factor family member 2
HGNC id 24666
Location 5q35.2      Physical location : 175.875.355 - 175.937.074
Synonym name
  • expressed in T-cells and eosinophils in atopic dermatitis
  • protein ETEA
  • UBX domain containing 8
  • FAS-associated factor 2
  • UBX domain protein 3B
  • Synonym symbol(s) KIAA0887, ETEA, UBXD8, UBXN3B
    DNA
    TYPE functioning gene
    STRUCTURE 61.72 kb     11 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    11 - 4515 - 445 - 2007 17353931
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
    Endocrinepancreas   highly
    Hearing/Equilibriumear   highly
    Nervousbrain    
    Reproductivefemale systemovary   
     male systemtestis   
    Respiratorylung    
    Urinarykidney    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularsmooth   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Lymphoid/Immunelymphocyte
    cell lineage
    cell lines
    fluid/secretion higlhy expressed in peripheral blood of patients with atopic dermatitis
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • one UBX domain, that may serve as adaptors for the multifunctional AAA ATPase p97
  • a UBA domain mediating binding to ubiquitin
  • a UAS domain, domain of >100 aa of unknown function, which assumes a thioredoxin-type fold
  • a transmembrane domain
  • HOMOLOGY
    interspecies homolog to murine Faf2 (97.7pc)
    homolog to rattus Faf2 (98.6pc)
    Homologene
    FAMILY
  • UBX family
  • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    basic FUNCTION
  • potentiates but cannot initiate FAS-induced apoptosis
  • may playing a role in regulating the resistance to apoptosis that is observed in T cells and eosinophils of atopic dermatitis patients
  • may play a role in the recruitment of the AAA ATPase VCP
  • negatively regulating NF1
  • may play a role in regulating the resistance to apoptosis that is observed in t cells and eosinophils of atopic dermatitis patients
  • key mediator by which unsaturated FAs inhibit their own synthesis
  • sensor for unsaturated Fatty acids (FAs) and regulator of TG (triglycerides) synthesis
  • inhibits TG synthesis by blocking conversion of diacylglycerols (DAGs) to TGs
  • acting as a brake that limits TG synthesis, and this brake is released when its structure is altered by exposure to unsaturated FAs
  • key player in the other regulatory action of unsaturated FAs, namely the stimulation of TG synthesis and lipid droplet formation
  • DERL1 and FAF2 are engaged in dislocation and degradation of lipidated APOB at lipid droplets
  • regulates lipid droplet homeostasis
  • FAF2 and VCP play central integrative roles in cellular energy homeostasis
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • specifically interacts with the cytoplasmic domain of FAS
  • FAF2 and DERL1 bind with each other and with lipidated APOB and show colocalization around lipid droplets (LDs)
  • membrane-embedded recruitment factor for the VCP segregase that has been previously linked to endoplasmic reticulum (ER)-associated degradation and to the control of triacylglycerol synthesis in the ER
  • UBQLN2 interacted with ubiquitin regulatory X domain-containing protein 8 (FAF2) and this interaction was impaired by pathogenic mutation of UBQLN2
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    in T cell and eosinophils of atopic dermatitis
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    diabetetype 2 
    a pharmacologic agent that mimics unsaturated FAs in inactivating Ubxd8 might enhance the conversion of diacylglycerols to triglycerides and thus relieving insulin resistance
    ANIMAL & CELL MODELS