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Aliases for FAF2 Gene

Aliases for FAF2 Gene

  • Fas Associated Factor Family Member 2 2 3
  • UBX Domain-Containing Protein 3B 3 4
  • UBX Domain-Containing Protein 8 3 4
  • UBX Domain Containing 8 2 3
  • UBX Domain Protein 3B 2 3
  • UBXN3B 3 4
  • UBXD8 3 4
  • ETEA 3 4
  • Expressed In T Cells And Eosinophils In Atopic Dermatitis 2
  • Expressed In T-Cells And Eosinophils In Atopic Dermatitis 3
  • FAS-Associated Factor 2 3
  • Protein ETEA 4
  • NDUNDUFA12L 6
  • KIAA0887 4
  • B17.2L 6
  • MMTN 6

External Ids for FAF2 Gene

Previous Symbols for FAF2 Gene

  • UBXD8

Summaries for FAF2 Gene

Entrez Gene Summary 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 atopic dermatitis and dermatitis. GO annotations related to this gene include ubiquitin protein ligase binding and ubiquitin binding. An important paralog of this gene is FAF1.

UniProtKB/Swiss-Prot for FAF2 Gene

  • May play a role in the translocation of terminally misfolded proteins from the endoplasmic reticulum lumen to the cytoplasm and their degradation by the proteasome.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FAF2 Gene

Genomics for FAF2 Gene

Genomic Location for FAF2 Gene

Start:
176,447,628 bp from pter
End:
176,510,074 bp from pter
Size:
62,447 bases
Orientation:
Plus strand

Genomic View for FAF2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for FAF2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FAF2 Gene

Regulatory Elements for FAF2 Gene

Proteins for FAF2 Gene

  • Protein details for FAF2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96CS3-FAF2_HUMAN
    Recommended name:
    FAS-associated factor 2
    Protein Accession:
    Q96CS3
    Secondary Accessions:
    • O94963
    • Q8IUF2
    • Q9BRP2
    • Q9BVM7

    Protein attributes for FAF2 Gene

    Size:
    445 amino acids
    Molecular mass:
    52623 Da
    Quaternary structure:
    • Identified in a complex that contains SEL1L, OS9, FAF2/UBXD8, UBE2J1/UBC6E and AUP1. Interacts with YOD1.
    Miscellaneous:
    • Up-regulated in T-cells and eosinophils from patients with atopic dermatitis

    Three dimensional structures from OCA and Proteopedia for FAF2 Gene

neXtProt entry for FAF2 Gene

Proteomics data for FAF2 Gene at MOPED

Post-translational modifications for FAF2 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys146, Lys167, Lys307, Lys329, Lys367, and Lys400

Other Protein References for FAF2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for FAF2 Gene

Domains for FAF2 Gene

Gene Families for FAF2 Gene

HGNC:
  • UBXN :UBX domain containing

Protein Domains for FAF2 Gene

UniProtKB/Swiss-Prot:

FAF2_HUMAN
Domain:
  • Contains 1 UBA domain.:
    • Q96CS3
  • Contains 1 UBX domain.:
    • Q96CS3
genes like me logo Genes that share domains with FAF2: view

Function for FAF2 Gene

Molecular function for FAF2 Gene

UniProtKB/Swiss-Prot Function: May play a role in the translocation of terminally misfolded proteins from the endoplasmic reticulum lumen to the cytoplasm and their degradation by the proteasome.

Gene Ontology (GO) - Molecular Function for FAF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 19818707
GO:0031625 ubiquitin protein ligase binding IDA 18775313
GO:0035473 lipase binding IDA 23297223
GO:0043130 ubiquitin binding IDA 18775313
GO:0055102 lipase inhibitor activity IDA 23297223
genes like me logo Genes that share ontologies with FAF2: view

Phenotypes for FAF2 Gene

MGI mutant phenotypes for FAF2:
inferred from 1 alleles
genes like me logo Genes that share phenotypes with FAF2: view

miRNA for FAF2 Gene

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for FAF2 Gene

Localization for FAF2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FAF2 Gene

Cytoplasm. Lipid droplet. Endoplasmic reticulum.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for FAF2 Gene COMPARTMENTS Subcellular localization image for FAF2 gene
Compartment Confidence
endoplasmic reticulum 5
cytosol 2
nucleus 2

Gene Ontology (GO) - Cellular Components for FAF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IDA 23297223
GO:0005811 lipid particle IDA 14741744
GO:0034098 VCP-NPL4-UFD1 AAA ATPase complex IDA 18775313
GO:0043231 intracellular membrane-bounded organelle IDA --
genes like me logo Genes that share ontologies with FAF2: view

Pathways for FAF2 Gene

SuperPathways for FAF2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for FAF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006986 response to unfolded protein IEA --
GO:0034389 lipid particle organization IMP 23297223
GO:0043086 negative regulation of catalytic activity IDA 23297223
genes like me logo Genes that share ontologies with FAF2: view

No data available for Pathways by source for FAF2 Gene

Transcripts for FAF2 Gene

Unigene Clusters for FAF2 Gene

Fas associated factor family member 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for FAF2 Gene

No ASD Table

Relevant External Links for FAF2 Gene

GeneLoc Exon Structure for
FAF2
ECgene alternative splicing isoforms for
FAF2

Expression for FAF2 Gene

mRNA expression in normal human tissues for FAF2 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for FAF2 Gene

SOURCE GeneReport for Unigene cluster for FAF2 Gene Hs.484242

mRNA Expression by UniProt/SwissProt for FAF2 Gene

Q96CS3-FAF2_HUMAN
Tissue specificity: Broadly expressed, with highest levels in brain.
genes like me logo Genes that share expressions with FAF2: view

Orthologs for FAF2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for FAF2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FAF2 36
  • 99.63 (n)
  • 99.78 (a)
FAF2 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia FAF2 36
  • 94.53 (n)
  • 99.1 (a)
FAF2 37
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FAF2 36
  • 94.91 (n)
  • 99.78 (a)
FAF2 37
  • 100 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Faf2 36
  • 90.41 (n)
  • 97.75 (a)
Faf2 16
Faf2 37
  • 98 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FAF2 37
  • 93 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FAF2 37
  • 76 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Faf2 36
  • 90.17 (n)
  • 98.55 (a)
chicken
(Gallus gallus)
Aves FAF2 36
  • 82.1 (n)
  • 94.38 (a)
FAF2 37
  • 94 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FAF2 37
  • 91 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia faf2 36
  • 74.01 (n)
  • 84.94 (a)
Str.16110 36
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7247 36
zebrafish
(Danio rerio)
Actinopterygii Dr.28227 36
faf2 36
  • 73.93 (n)
  • 84.04 (a)
faf2 37
  • 84 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007977 36
  • 49.96 (n)
  • 41.72 (a)
fruit fly
(Drosophila melanogaster)
Insecta Faf 36
  • 51.18 (n)
  • 45.31 (a)
Faf 37
  • 42 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes UBX3 37
  • 20 (a)
OneToMany
UBX3 39
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G10790 36
  • 43.49 (n)
  • 30.46 (a)
rice
(Oryza sativa)
Liliopsida Os10g0520600 36
  • 42.56 (n)
  • 32.81 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU01928 36
  • 42.3 (n)
  • 30.16 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes ucp10 36
  • 42.21 (n)
  • 26.63 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4720 37
  • 33 (a)
OneToMany
CSA.8928 37
  • 37 (a)
OneToMany
Species with no ortholog for FAF2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for FAF2 Gene

ENSEMBL:
Gene Tree for FAF2 (if available)
TreeFam:
Gene Tree for FAF2 (if available)

Paralogs for FAF2 Gene

Paralogs for FAF2 Gene

Pseudogenes.org Pseudogenes for FAF2 Gene

genes like me logo Genes that share paralogs with FAF2: view

Variants for FAF2 Gene

Sequence variations from dbSNP and Humsavar for FAF2 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type MAF
rs11027 -- 176,509,515(+) TGAGC(C/T)GAATA utr-variant-3-prime
rs11320 -- 176,509,873(-) TAGAG(C/T)GGAGC utr-variant-3-prime
rs12341 -- 176,508,734(+) TGTCA(A/G)TAAAA utr-variant-3-prime
rs753379 -- 176,493,119(+) TGTGG(C/G)AATAG intron-variant
rs754350 -- 176,493,440(-) CCTGC(A/C)TGTGC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for FAF2 Gene

Variant ID Type Subtype PubMed ID
nsv521107 CNV Loss 19592680

Relevant External Links for FAF2 Gene

HapMap Linkage Disequilibrium report
FAF2

Disorders for FAF2 Gene

(2) OMIM Diseases for FAF2 Gene (609653)

(1) University of Copenhagen DISEASES for FAF2 Gene

Relevant External Links for FAF2

Genetic Association Database (GAD)
FAF2
genes like me logo Genes that share disorders with FAF2: view

No data available for UniProtKB/Swiss-Prot for FAF2 Gene

Publications for FAF2 Gene

  1. Cloning and characterization of the highly expressed ETEA gene from blood cells of atopic dermatitis patients. (PMID: 12372427) Imai Y. … Oshida T. (Biochem. Biophys. Res. Commun. 2002) 2 3 4 23
  2. Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10048485) Nagase T. … Ohara O. (DNA Res. 1998) 2 3 4
  3. The RasGAP proteins Ira2 and neurofibromin are negatively regulated by Gpb1 in yeast and ETEA in humans. (PMID: 20160012) Phan V.T. … McCormick F. (Mol. Cell. Biol. 2010) 3 23
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  5. SEL1L nucleates a protein complex required for dislocation of misfolded glycoproteins. (PMID: 18711132) Mueller B. … Ploegh H.L. (Proc. Natl. Acad. Sci. U.S.A. 2008) 3 4

Products for FAF2 Gene

Sources for FAF2 Gene

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