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Aliases for FAF2 Gene

Aliases for FAF2 Gene

  • Fas Associated Factor Family Member 2 2 3 5
  • 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
  • KIAA0887 4

External Ids for FAF2 Gene

Previous HGNC Symbols for FAF2 Gene

  • UBXD8

Previous GeneCards Identifiers for FAF2 Gene

  • GC05P175809
  • GC05P175875
  • GC05P170799

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. Among its related pathways are Innate Immune System and Glucose / Energy Metabolism. 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 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). 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).

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

Genomics for FAF2 Gene

Regulatory Elements for FAF2 Gene

Enhancers for FAF2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH05G177021 1.2 ENCODE 66 +574.9 574913 2.7 CREB3L1 DMAP1 YY1 ZNF416 ZNF143 ZNF263 SP3 SSRP1 ZNF610 GLIS1 FAF2 ENSG00000251414 ENSG00000250909 ZNF346 ENSG00000247679 LOC202181 ZNF346-IT1 RPL21P60 FGFR4 NSD1
GH05G176539 1.9 FANTOM5 Ensembl ENCODE dbSUPER 31.4 +98.2 98157 11.8 HDGF FOXA2 PKNOX1 MLX CREB3L1 ARNT AGO1 ZFP64 ARID4B SIN3A FAF2 CDHR2 RNF44 UIMC1 CLTB GPRIN1 HIGD2A HK3 SIMC1 RN7SL684P
GH05G176132 1.2 Ensembl ENCODE 35.8 -313.6 -313578 3.4 ZNF493 ZFP64 ZNF121 ZNF138 ZNF354C SCRT2 KLF7 ZNF202 ZNF654 ZBTB11 FAM153B ENSG00000251414 ZNF346-IT1 ENSG00000250909 FAF2 ZNF346 BRCC3P1 EIF4E1B ENSG00000251623 ENSG00000251458
GH05G177402 1.4 ENCODE dbSUPER 30.3 +956.0 956027 3.1 HDGF CREB3L1 AGO1 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 CBX5 ZNF346 LOC202181 ENSG00000247679 ZNF346-IT1 FAF2 SUDS3P1 F12 GRK6
GH05G176410 1.6 Ensembl ENCODE dbSUPER 23.5 -32.7 -32712 8.8 PKNOX1 ARNT CREB3L1 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B ZNF143 ZNF207 ENSG00000251414 FAF2 HIGD2A ARL10 NOP16 ENSG00000250909 MIR1271 KIAA1191 CDHR2 RN7SL684P
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around FAF2 on UCSC Golden Path with GeneCards custom track

Promoters for FAF2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000191223 572 2401 PKNOX1 CREB3L1 ARNT WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766

Genomic Location for FAF2 Gene

Chromosome:
5
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

Genes around FAF2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FAF2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FAF2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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 (PubMed:18711132). Interacts with YOD1 (PubMed:19818707). Interacts (via N-terminus) with UBQLN2 (via C-terminus) (PubMed:24215460). Interacts with PNPLA2 and UBAC2 (PubMed:23297223).
    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

Post-translational modifications for FAF2 Gene

  • Ubiquitination at Lys146, isoforms=167, Lys307, isoforms=329, isoforms=367, and Lys400
  • Modification sites at PhosphoSitePlus

Other Protein References for FAF2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for FAF2 Gene

Domains & Families for FAF2 Gene

Gene Families for FAF2 Gene

Suggested Antigen Peptide Sequences for FAF2 Gene

Graphical View of Domain Structure for InterPro Entry

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

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

Function for FAF2 Gene

Molecular function for FAF2 Gene

UniProtKB/Swiss-Prot Function:
Plays an important role in endoplasmic reticulum-associated degradation (ERAD) that mediates ubiquitin-dependent degradation of misfolded endoplasmic reticulum proteins (PubMed:18711132, PubMed:24215460). 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).

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

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for FAF2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FAF2 gene
Compartment Confidence
endoplasmic reticulum 5
extracellular 4
lysosome 4
cytosol 3
nucleus 2

Gene Ontology (GO) - Cellular Components for FAF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005737 cytoplasm IEA --
GO:0005783 endoplasmic reticulum IDA 23297223
GO:0005811 lipid particle IEA,IDA 14741744
GO:0034098 VCP-NPL4-UFD1 AAA ATPase complex IDA 18775313
genes like me logo Genes that share ontologies with FAF2: view

Pathways & Interactions for FAF2 Gene

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

Pathways by source for FAF2 Gene

1 Cell Signaling Technology pathway for FAF2 Gene
3 Reactome pathways for FAF2 Gene

Gene Ontology (GO) - Biological Process for FAF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006986 response to unfolded protein IEA --
GO:0030433 ER-associated ubiquitin-dependent protein catabolic process IMP 24215460
GO:0030970 retrograde protein transport, ER to cytosol IMP 25660456
GO:0034389 lipid particle organization IMP 23297223
GO:0043086 negative regulation of catalytic activity IEA --
genes like me logo Genes that share ontologies with FAF2: view

No data available for SIGNOR curated interactions for FAF2 Gene

Drugs & Compounds for FAF2 Gene

No Compound Related Data Available

Transcripts for FAF2 Gene

Unigene Clusters for FAF2 Gene

Fas associated factor family member 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for FAF2

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 from GTEx, Illumina, BioGPS, and CGAP SAGE for FAF2 Gene

Protein differential expression in normal tissues from HIPED for FAF2 Gene

This gene is overexpressed in Bone (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for FAF2 Gene



Protein tissue co-expression partners for FAF2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of FAF2 Gene:

FAF2

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.

Evidence on tissue expression from TISSUES for FAF2 Gene

  • Nervous system(4.6)
  • Lung(4.4)
  • Liver(4.3)
  • Blood(4.2)
  • Muscle(4.2)
  • Intestine(2.4)
  • Pancreas(2.4)
  • Heart(2.2)
genes like me logo Genes that share expression patterns with FAF2: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for FAF2 Gene

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 34 35
  • 99.63 (n)
dog
(Canis familiaris)
Mammalia FAF2 34 35
  • 94.91 (n)
cow
(Bos Taurus)
Mammalia FAF2 34 35
  • 94.53 (n)
oppossum
(Monodelphis domestica)
Mammalia FAF2 35
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Faf2 34 16 35
  • 90.41 (n)
rat
(Rattus norvegicus)
Mammalia Faf2 34
  • 90.17 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia FAF2 35
  • 76 (a)
OneToOne
chicken
(Gallus gallus)
Aves FAF2 34 35
  • 82.1 (n)
lizard
(Anolis carolinensis)
Reptilia FAF2 35
  • 91 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia faf2 34
  • 74.01 (n)
Str.16110 34
zebrafish
(Danio rerio)
Actinopterygii faf2 34 35
  • 73.93 (n)
Dr.28227 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7247 34
fruit fly
(Drosophila melanogaster)
Insecta Faf 34 35
  • 51.18 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007977 34
  • 49.96 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes UBX3 35 37
  • 20 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G10790 34
  • 43.49 (n)
rice
(Oryza sativa)
Liliopsida Os10g0520600 34
  • 42.56 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU01928 34
  • 42.3 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes ucp10 34
  • 42.21 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8928 35
  • 37 (a)
OneToMany
CSA.4720 35
  • 33 (a)
OneToMany
Species where no ortholog for FAF2 was found in the sources mined by GeneCards:
  • 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
rs1000025732 -- 176,452,068(+) TCTGT(C/T)TGTTT intron-variant
rs1000057536 -- 176,484,009(+) GGGGA(A/C)GTTGC intron-variant
rs1000156958 -- 176,499,152(+) TCTTA(A/C)GTGTG intron-variant
rs1000203472 -- 176,489,942(+) ACCTT(C/T)CTTCT intron-variant
rs1000226882 -- 176,448,361(+) GTTCC(C/G)GCGGG utr-variant-5-prime

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

Variant ID Type Subtype PubMed ID
nsv1023853 CNV gain 25217958
nsv1109748 CNV deletion 24896259
nsv521107 CNV loss 19592680

Variation tolerance for FAF2 Gene

Residual Variation Intolerance Score: 41.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.73; 15.43% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FAF2 Gene

Human Gene Mutation Database (HGMD)
FAF2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FAF2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FAF2 Gene

Disorders for FAF2 Gene

MalaCards: The human disease database

(4) MalaCards diseases for FAF2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
atopic dermatitis
  • allergic eczema
dermatitis
  • eczema
enophthalmos
orbital disease
  • orbital diseases
- elite association - COSMIC cancer census association via MalaCards
Search FAF2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for FAF2

Genetic Association Database (GAD)
FAF2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FAF2
genes like me logo Genes that share disorders with FAF2: view

No data available for UniProtKB/Swiss-Prot and Genatlas 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 22 64
  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 64
  3. Pathogenic mutation of UBQLN2 impairs its interaction with UBXD8 and disrupts endoplasmic reticulum-associated protein degradation. (PMID: 24215460) Xia Y. … Huang C. (J. Neurochem. 2014) 3 4 64
  4. Spatial regulation of UBXD8 and p97/VCP controls ATGL-mediated lipid droplet turnover. (PMID: 23297223) Olzmann J.A. … Kopito R.R. (Proc. Natl. Acad. Sci. U.S.A. 2013) 3 4 64
  5. 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 22 64

Products for FAF2 Gene

  • Addgene plasmids for FAF2

Sources for FAF2 Gene

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