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 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 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).
Additional gene information for FAF2 Gene
- 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 , fRNAdb sequence ontologies 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 dump
GeneHancers around FAF2 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
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)
Genomic View for FAF2 Gene
Genes around FAF2 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 5q35.2 by Ensembl
- 5q35.2 by Entrez Gene
- 5q35.2 by HGNC
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).
- 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
- Novus Biologicals Antibodies for FAF2
-
Abcam antibodies for FAF2
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-
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Protein Products
-
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-
Abcam proteins for FAF2
Assay Products
- antibodies-online: Search results for 8 available FAF2 Elisa Kits ranked by validation data
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-
Quality Products:
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:
- ProtoNet:
Suggested Antigen Peptide Sequences for FAF2 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
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).
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 2 alleles
- GenomeRNAi human phenotypes for FAF2:
Animal Model Products
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-
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miRNA for FAF2 Gene
- miRTarBase miRNAs that target FAF2
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Inhibitory RNA Products
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Clone Products
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-
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- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for FAF2
- genomics-online: cdna clones - Search results for available FAF2 gene related products
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-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for FAF2
-
ViGene Biosciences adenoviral particle packaged cDNA for FAF2 gene
-
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-
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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 |
|---|---|
| endoplasmic reticulum | 5 |
| extracellular | 4 |
| lysosome | 4 |
| cytosol | 3 |
| nucleus | 2 |
- 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 | IDA,IEA | 23297223 |
| GO:0005811 | lipid droplet | IDA,IEA | 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
IID
STRING
UniProtKB
| 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 particle 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
- (2) REFSEQ mRNAs :
- (7) Additional mRNA sequences :
- (394) Selected AceView cDNA sequences:
- (6) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for FAF2 Gene
CRISPR Products
-
OriGene CRISPR knockouts for FAF2
- genomics-online: gRNA clones - Search results for available FAF2 gene related products
- Applied Biological Materials CRISPR for FAF2
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for FAF2
- GenScript: Design CRISPR guide RNA sequences for FAF2
miRNA Products
- Search ViGene Biosciences for FAF2
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for FAF2
- Browse OriGene Inhibitory RNA Products For FAF2
- genomics-online: shRNA clones - Search results for available FAF2 gene related products
-
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Clone Products
- Sino Biological Human cDNA Clone for FAF2
- VectorBuilder custom plasmid, inducible vectors for FAF2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for FAF2
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for FAF2
- genomics-online: cdna clones - Search results for available FAF2 gene related products
- orf clones - Search results for available FAF2 gene related products
- Applied Biological Materials Clones for FAF2
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression 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
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of FAF2 Gene:
FAF2SOURCE 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(4.6)
- Lung(4.4)
- Liver(4.3)
- Blood(4.2)
- Muscle(4.2)
- Intestine(2.4)
- Pancreas(2.4)
- Heart(2.2)
Primer Products
-
OriGene qPCR primer pairs for FAF2
-
OriGene qPCR primer pairs and template standards for FAF2
- genomics-online: primer clones - Search results for available FAF2 gene related products
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 33 34 |
|
||
| dog (Canis familiaris) |
Mammalia | FAF2 33 34 |
|
||
| cow (Bos Taurus) |
Mammalia | FAF2 33 34 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | FAF2 34 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Faf2 33 16 34 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Faf2 33 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | FAF2 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | FAF2 33 34 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | FAF2 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | faf2 33 |
|
||
| Str.16110 33 |
|
||||
| zebrafish (Danio rerio) |
Actinopterygii | faf2 33 34 |
|
||
| Dr.28227 33 |
|
||||
| rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.7247 33 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | Faf 33 34 |
|
||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP007977 33 |
|
||
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | UBX3 34 36 |
|
OneToMany | |
| thale cress (Arabidopsis thaliana) |
eudicotyledons | AT4G10790 33 |
|
||
| rice (Oryza sativa) |
Liliopsida | Os10g0520600 33 |
|
||
| bread mold (Neurospora crassa) |
Ascomycetes | NCU01928 33 |
|
||
| fission yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | ucp10 33 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.8928 34 |
|
OneToMany | |
| CSA.4720 34 |
|
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)
Paralogs for FAF2 Gene
Pseudogenes.org Pseudogenes for FAF2 Gene
Variants 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 |
| 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 for FAF2 Gene
Disorders for FAF2 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| dermatitis |
|
|
| enophthalmos |
|
|
| orbital disease |
|
|
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
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 22 58
- 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 58
- 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 58
- 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 58
- The RasGAP proteins Ira2 and neurofibromin are negatively regulated by Gpb1 in yeast and ETEA in humans. (PMID: 20160012) Phan VT … McCormick F (Molecular and cellular biology 2010) 3 22 58
Products for FAF2 Gene
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- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for FAF2
- antibodies-online: Search results for 57 available FAF2 Antibodies ranked by validation data
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Sources for FAF2 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
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