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] See more...

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
  • FAS-Associated Factor 2 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 3
  • Expressed In T Cells And Eosinophils In Atopic Dermatitis 2
  • 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 Dermatitis and Enophthalmos. Among its related pathways are Innate Immune System and Glucose / Energy Metabolism. Gene Ontology (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 Summary 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). By controlling the steady-state expression of the IGF1R receptor, indirectly regulates the insulin-like growth factor receptor signaling pathway (PubMed:26692333). 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).

Additional gene information for FAF2 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FAF2 Gene

Genomics for FAF2 Gene

GeneHancer (GH) Regulatory Elements for FAF2 Gene

Promoters and enhancers for FAF2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FAF2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the FAF2 gene promoter:
  • E47
  • GATA-3
  • LyF-1
  • MZF-1
  • Nkx3-1
  • Nkx3-1 v1
  • Nkx3-1 v2
  • Nkx3-1 v3
  • Nkx3-1 v4
  • Tal-1

Genomic Locations for FAF2 Gene

Genomic Locations for FAF2 Gene
chr5:176,447,628-176,510,074
(GRCh38/hg38)
Size:
62,447 bases
Orientation:
Plus strand
chr5:175,874,629-175,937,075
(GRCh37/hg19)
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). Interacts with ZFAND2B; probably through VCP (PubMed:24160817).
    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, Lys167, Lys307, Lys329, Lys367, 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

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Suggested Antigen Peptide Sequences for FAF2 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ61076, highly similar to UBX domain-containing protein 8 (B4E2M8_HUMAN)
  • UBX domain-containing protein 8 (FAF2_HUMAN)
genes like me logo Genes that share domains with FAF2: view

No data available for Graphical View of Domain Structure and 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). By controlling the steady-state expression of the IGF1R receptor, indirectly regulates the insulin-like growth factor receptor signaling pathway (PubMed:26692333). 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).

Phenotypes From GWAS Catalog for FAF2 Gene

Gene Ontology (GO) - Molecular Function for FAF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 18711132
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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FAF2

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
extracellular 4
endoplasmic reticulum 4
lysosome 4
nucleus 2
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Lipid droplets (4)
  • Endoplasmic reticulum (3)
See all subcellular structures

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,IEA 23297223
GO:0005811 lipid droplet 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

3 Reactome pathways for FAF2 Gene
1 Cell Signaling Technology pathway 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 ubiquitin-dependent ERAD pathway IMP 24215460
GO:0030970 retrograde protein transport, ER to cytosol IMP 25660456
GO:0034389 lipid droplet 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

mRNA/cDNA for FAF2 Gene

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FAF2

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, 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

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 33 32
  • 99.63 (n)
OneToOne
dog
(Canis familiaris)
Mammalia FAF2 33 32
  • 94.91 (n)
OneToOne
cow
(Bos Taurus)
Mammalia FAF2 33 32
  • 94.53 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FAF2 33
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Faf2 17 33 32
  • 90.41 (n)
rat
(Rattus norvegicus)
Mammalia Faf2 32
  • 90.17 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia FAF2 33
  • 76 (a)
OneToOne
chicken
(Gallus gallus)
Aves FAF2 33 32
  • 82.1 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FAF2 33
  • 91 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia faf2 32
  • 74.01 (n)
Str.16110 32
zebrafish
(Danio rerio)
Actinopterygii faf2 33 32
  • 73.93 (n)
OneToOne
Dr.28227 32
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7247 32
fruit fly
(Drosophila melanogaster)
Insecta Faf 33 32
  • 51.18 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007977 32
  • 49.96 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes UBX3 35 33
  • 20 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G10790 32
  • 43.49 (n)
rice
(Oryza sativa)
Liliopsida Os10g0520600 32
  • 42.56 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU01928 32
  • 42.3 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes ucp10 32
  • 42.21 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8928 33
  • 37 (a)
OneToMany
CSA.4720 33
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for FAF2: view image

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 Variation AA Info Type
rs1000025732 -- 176,452,068(+) T/C intron_variant
rs1000057536 -- 176,484,009(+) A/C intron_variant
rs1000156958 -- 176,499,152(+) A/C intron_variant
rs1000203472 -- 176,489,942(+) T/C intron_variant
rs1000226882 -- 176,448,361(+) G/A/C 5_prime_UTR_variant, genic_upstream_transcript_variant, upstream_transcript_variant

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)

Additional Variant Information for FAF2 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for FAF2 Gene

MalaCards: The human disease database

(3) MalaCards diseases for FAF2 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
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

Additional Disease Information for 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 (Biochemical and biophysical research communications 2002) 2 3 4 23 56
  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 research : an international journal for rapid publication of reports on genes and genomes 1998) 2 3 4 56
  3. Signal-peptide-mediated translocation is regulated by a p97-AIRAPL complex. (PMID: 24160817) Glinka T … Stanhill A (The Biochemical journal 2014) 3 4 56
  4. Pathogenic mutation of UBQLN2 impairs its interaction with UBXD8 and disrupts endoplasmic reticulum-associated protein degradation. (PMID: 24215460) Xia Y … Huang C (Journal of neurochemistry 2014) 3 4 56
  5. Spatial regulation of UBXD8 and p97/VCP controls ATGL-mediated lipid droplet turnover. (PMID: 23297223) Olzmann JA … Kopito RR (Proceedings of the National Academy of Sciences of the United States of America 2013) 3 4 56

Products for FAF2 Gene

Sources for FAF2 Gene