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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

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart       highly Endocrine pancreas       highly Hearing/Equilibrium ear       highly Nervous brain         Reproductive female system ovary         male system testis       Respiratory lung         Urinary kidney

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular smooth

cells

System Cell Pubmed Species Stage Rna symbol Lymphoid/Immune lymphocyte

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
	FAF2 is an essential determinant of metabolically stimulated degradation of HMGCR and of cholesterol biosynthesis in multiple cell types

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --over   in T cell and eosinophils of atopic dermatitis

Susceptibility

Variant & Polymorphism

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed diabete type 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