• Gene id: 23197

Gene Summary

• Gene Symbol: FAF2   Gene   UCSC   Ensembl
• Aliases: ETEA, UBXD8, UBXN3B
• Gene name: Fas associated factor family member 2
• Alternate names: FAS-associated factor 2, UBX domain containing 8, UBX domain protein 3B, UBX domain-containing protein 3B, UBX domain-containing protein 8, expressed in T-cells and eosinophils in atopic dermatitis,
• Gene location: 5q35.2 (176448327: 176510073)     Exons: 11     NC_000005.10
• Gene summary(Entrez): 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 A
• OMIM: 616935

Protein Summary

• Protein general information: Q96CS3  
  • Name: FAS associated factor 2 (Protein ETEA) (UBX domain containing protein 3B) (UBX domain containing protein 8)
  • Length: 445  
  • Mass: 52623
  • Tissue specificity: Broadly expressed, with highest levels in brain. {ECO
• Sequence:

  MAAPEERDLTQEQTEKLLQFQDLTGIESMDQCRHTLEQHNWNIEAAVQDRLNEQEGVPSVFNPPPSRPLQVNTAD
  HRIYSYVVSRPQPRGLLGWGYYLIMLPFRFTYYTILDIFRFALRFIRPDPRSRVTDPVGDIVSFMHSFEEKYGRA
  HPVFYQGTYSQALNDAKRELRFLLVYLHGDDHQDSDEFCRNTLCAPEVISLINTRMLFWACSTNKPEGYRVSQAL
  RENTYPFLAMIMLKDRRMTVVGRLEGLIQPDDLINQLTFIMDANQTYLVSERLEREERNQTQVLRQQQDEAYLAS
  LRADQEKERKKREERERKRRKEEEVQQQKLAEERRRQNLQEEKERKLECLPPEPSPDDPESVKIIFKLPNDSRVE
  RRFHFSQSLTVIHDFLFSLKESPEKFQIEANFPRRVLPCIPSEEWPNPPTLQEAGLSHTEVLFVQDLTDE

• Structural information:
  • Protein Domains: (12..4-)
    (/note="UBA-)
    (357..43-)
    (/note="UBX-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00215"-)
  • Interpro: IPR036249  IPR006577  IPR009060  IPR029071  IPR001012  
  • Prosite: PS50033
  • PDB: 2DAM
  • PDBsum: 2DAM
  • DIP: 46261
  • STRING: ENSP00000261942
• Other Databases: GeneCards:  FAF2  Malacards:  FAF2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030970	retrograde protein transport, ER to cytosol	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0030433	ubiquitin-dependent ERAD pathway	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0006986	response to unfolded protein	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005811	lipid droplet	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005811	lipid droplet	IDA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0055102	lipase inhibitor activity	IDA	molecular function
GO:0035473	lipase binding	IDA	molecular function
GO:0034389	lipid droplet organization	IMP	biological process
GO:0043312	neutrophil degranulation	TAS	biological process
GO:0005576	extracellular region	TAS	cellular component
GO:0035578	azurophil granule lumen	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0043161	proteasome-mediated ubiquitin-dependent protein catabolic process	IEA	biological process
GO:0031625	ubiquitin protein ligase binding	IDA	molecular function
GO:0043130	ubiquitin binding	IDA	molecular function
GO:0034098	VCP-NPL4-UFD1 AAA ATPase complex	IDA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005811	lipid droplet	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005811	lipid droplet	IDA	cellular component
GO:0043086	negative regulation of catalytic activity	IEA	biological process
GO:0005811	lipid droplet	IDA	cellular component

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)