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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
External Ids for FAF2 Gene
- HGNC: 24666
- Entrez Gene: 23197
- Ensembl: ENSG00000113194
- OMIM: 616935
- UniProtKB: Q96CS3
Previous HGNC Symbols for FAF2 Gene
- UBXD8
Previous GeneCards Identifiers for FAF2 Gene
- GC05P175809
- GC05P175875
- GC05P170799
Summaries 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 Neuronopathy, Distal Hereditary Motor, Type Viii. 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
- HGNC(24666)
- Entrez Gene(23197)
- Ensembl(ENSG00000113194)
- OMIM(616935)
- UniProtKB(Q96CS3)
- Open Targets Platform(ENSG00000113194)
- Monarch Initiative
- Search for FAF2 at DataMed
- Search for FAF2 at HumanCyc
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 Pubs
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 the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FAF2
- 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:
-
- 5q35.2 by HGNC
- 5q35.2 by Entrez Gene
- 5q35.2 by Ensembl
FAF2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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). Interacts with LMBR1L (PubMed:31073040).
- Miscellaneous:
-
- Up-regulated in T-cells and eosinophils from patients with atopic dermatitis.
Protein Expression for FAF2 Gene
Post-translational modifications for FAF2 Gene
Other Protein References for FAF2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- G Biosciences Immunotag™ FAF2 Antibody
- Novus Biologicals Antibodies for FAF2
-
Abcam antibodies for FAF2
- Invitrogen Antibodies for FAF2 (AFLGC-FAF2)
-
Santa Cruz Biotechnology (SCBT) Antibodies for FAF2
Protein Products
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- antibodies-online: Show 8 available FAF2 Proteins ranked by validation data
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Quality Products:
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Signalway Proteins for FAF2
-
Abcam proteins for FAF2
Assay Products
- antibodies-online: Show 9 available FAF2 Elisa Kits ranked by validation data
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-
Quality Products:
-
Signalway ELISA kits for FAF2
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
Protein Domains for FAF2 Gene
- InterPro:
- Blocks:
-
- Ubiquitin-associated domain
- UBX domain
- ProtoNet:
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)
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
| 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 |
Phenotypes for FAF2 Gene
- MGI mutant phenotypes for FAF2:
- inferred from 3 alleles
- GenomeRNAi human phenotypes for FAF2:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for FAF2 - Select products 50% OFF >
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-
Santa Cruz Biotechnology (SCBT) CRISPR for FAF2
miRNA for FAF2 Gene
- miRTarBase miRNAs that target FAF2
-
- mmu-miR-541-5p (MIRT008278)
- mmu-miR-324-3p (MIRT010829)
- hsa-miR-30a-5p (MIRT028605)
- hsa-miR-193b-3p (MIRT041330)
- hsa-miR-149-5p (MIRT045457)
- hsa-miR-17-5p (MIRT166061)
- hsa-miR-20a-5p (MIRT166062)
- hsa-miR-93-5p (MIRT166063)
- hsa-miR-106b-5p (MIRT166066)
- hsa-miR-20b-5p (MIRT166067)
- hsa-miR-519d-3p (MIRT166071)
- mmu-miR-362-3p (MIRT605004)
- mmu-miR-329-3p (MIRT605005)
- mmu-miR-669n (MIRT605006)
- mmu-miR-5129-5p (MIRT605007)
miRNA Products
Inhibitory RNA Products
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Clone Products
- Applied Biological Materials (abm): Clones for FAF2 - Select products 50% OFF >
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Cell Line Products
-
Horizon Cell Lines 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.
| Compartment | Confidence |
|---|---|
| extracellular | 4 |
| endoplasmic reticulum | 4 |
| lysosome | 4 |
| nucleus | 3 |
| cytosol | 3 |
| plasma membrane | 1 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| peroxisome | 1 |
| endosome | 1 |
| golgi apparatus | 1 |
- Lipid droplets (4)
- Endoplasmic reticulum (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005576 | extracellular region | TAS | -- |
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005783 | endoplasmic reticulum | IEA,IDA | 23297223 |
| GO:0005811 | lipid droplet | IEA,IDA | 14741744 |
| GO:0034098 | VCP-NPL4-UFD1 AAA ATPase complex | IDA | 18775313 |
Pathways & Interactions for FAF2 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Innate Immune System |
.61
|
|
| 2 | Glucose / Energy Metabolism | ||
Pathways by source for FAF2 Gene
3 Reactome pathways for FAF2 Gene
1 Cell Signaling Technology pathway for FAF2 Gene
Interacting Proteins for FAF2 Gene
Selected Interacting proteins:
Q96CS3-FAF2_HUMAN
ENSP00000261942
for FAF2 Gene via
UniProtKB
STRING
IID
| Symbol | External ID(s) | Details |
|---|---|---|
| VCP | ||
| ABCB7 | ||
| ABCD3 | ||
| ABCF2-H2BE1 | ||
| ABHD17B |
GPS-Prot Interaction Network for FAF2
| 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 | -- |
No data available for SIGNOR curated interactions for FAF2 Gene
Transcripts for FAF2 Gene
mRNA/cDNA for FAF2 Gene
- 1 REFSEQ mRNAs :
- 8 NCBI additional mRNA sequence :
- 6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000261942 4485 nts (view in UCSC)
- ENST00000504983 613 nts (view in UCSC)
- ENST00000506061 337 nts (view in UCSC)
- ENST00000510446 756 nts (view in UCSC)
- ENST00000510730 684 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for FAF2 - Select products 50% OFF >
- * FAF2 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for FAF2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for FAF2
-
Santa Cruz Biotechnology (SCBT) CRISPR for FAF2
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for FAF2
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Clone Products
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- Sino Biological Human cDNA Clone for FAF2
- Addgene plasmids for FAF2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for FAF2
Relevant External Links for FAF2 Gene
- GeneLoc Exon Structure for
- FAF2
Expression 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
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FAF2
SOURCE GeneReport for Unigene cluster for FAF2 Gene:
Hs.484242mRNA 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(4.7)
- Liver(4.5)
- Lung(4.4)
- Blood(4.4)
- Muscle(4.4)
- Intestine(2.9)
- Pancreas(2.8)
- Heart(2.6)
- Kidney(2.4)
- Skin(2.1)
Primer Products
-
OriGene qPCR primer pairs for FAF2
-
OriGene qPCR primer pairs and template standards for FAF2
Gene Expression Assay 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | FAF2 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | FAF2 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | FAF2 30 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | FAF2 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Faf2 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Faf2 30 |
|
||
| Platypus (Ornithorhynchus anatinus) |
Mammalia | FAF2 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | FAF2 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | FAF2 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | faf2 30 |
|
||
| Str.16110 30 |
|
||||
| Zebrafish (Danio rerio) |
Actinopterygii | faf2 30 31 |
|
OneToOne | |
| Dr.28227 30 |
|
||||
| Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.7247 30 |
|
||
| Fruit Fly (Drosophila melanogaster) |
Insecta | Faf 30 31 |
|
OneToOne | |
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP007977 30 |
|
||
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | UBX3 31 33 |
|
OneToMany | |
| Thale Cress (Arabidopsis thaliana) |
eudicotyledons | AT4G10790 30 |
|
||
| Rice (Oryza sativa) |
Liliopsida | Os10g0520600 30 |
|
||
| Bread mold (Neurospora crassa) |
Ascomycetes | NCU01928 30 |
|
||
| Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | ucp10 30 |
|
||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.8928 31 |
|
OneToMany | |
| CSA.4720 31 |
|
OneToMany |
- Species where no ortholog for FAF2 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
- 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
Variants for FAF2 Gene
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| nsv1023853 | CNV | gain | 25217958 |
| nsv1109748 | CNV | deletion | 24896259 |
| nsv521107 | CNV | loss | 19592680 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FAF2 Gene
Disorders for FAF2 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| dermatitis |
|
|
| neuronopathy, distal hereditary motor, type viii |
|
|
| neuroschistosomiasis |
|
|
| frontotemporal dementia and/or amyotrophic lateral sclerosis 1 |
|
|
Search FAF2 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for FAF2
- Genetic Association Database
- (GAD)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot and Genatlas for FAF2 Gene
Publications for FAF2 Gene
- 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
- 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
- LMBR1L regulates lymphopoiesis through Wnt/β-catenin signaling. (PMID: 31073040) Choi JH … Beutler B (Science (New York, N.Y.) 2019) 3 4
- Signal-peptide-mediated translocation is regulated by a p97-AIRAPL complex. (PMID: 24160817) Glinka T … Stanhill A (The Biochemical journal 2014) 3 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
ExternalLinks
Products for FAF2 Gene
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- Abcam proteins for FAF2
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- Browse Primary Antibodies
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- antibodies-online: Show 15 available FAF2 Antibodies ranked by validation data
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- antibodies-online: Show 8 available FAF2 Proteins ranked by validation data
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Sources for FAF2 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
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