FAF2 Gene
protein-coding GIFtS: 48
GCID: GC05P175875
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Fas associated factor family member 2(Previous name: UBX domain containing 8 )
(Previous symbol: UBXD8)
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Aliases
for FAF2 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Fas Associated Factor Family Member 21 2 | | Expressed In T-Cells And Eosinophils In Atopic Dermatitis2 | | ETEA1 2 3 | | FAS-Associated Factor 22 | | UBXD81 2 3 | | UBX Domain Protein 3B2 | | UBXN3B1 2 3 | | Protein ETEA3 | | UBX Domain Containing 81 2 | | B17.2L5 | | KIAA08871 3 | | MMTN5 | | UBX Domain-Containing Protein 3B2 3 | | NDUNDUFA12L5 | | UBX Domain-Containing Protein 82 3 | | |
Export aliases for FAF2 gene to outside databasesPrevious GC identifers: GC05P175809 GC05P170799 |
Summaries
for FAF2 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for FAF2:
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 Tcells and eosinophils of AD patients. (provided by RefSeq, Jul 2008)
UniProtKB/Swiss-Prot: FAF2_HUMAN, Q96CS3Function: May play a role in the translocation of terminally misfolded proteins from the endoplasmic reticulum lumen tothe cytoplasm and their degradation by the proteasome
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Genomic Views
for FAF2 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000005.9 NC_018916.1 NT_023133.13
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the FAF2 gene promoter:
Nkx3-1 Nkx3-1 v4 Tal-1 GATA-3 Nkx3-1 v1 E47 Nkx3-1 v2 MZF-1 Nkx3-1 v3 LyF-1
Other transcription factors
Search SABiosciences Chromatin IP Primers for FAF2
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FAF2 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 5q35.2 Ensembl cytogenetic band: 5q35.2 HGNC cytogenetic band: 5q35.2FAF2 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 5 GeneLoc Exon Structure GeneLoc location for GC05P175875: view genomic region
(about GC identifiers)
Start:
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175,874,629 bp from pter |
End:
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175,937,075 bp from pter |
Size:
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62,447 bases |
Orientation:
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plus strand |
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Proteins
for FAF2 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: FAF2_HUMAN, Q96CS3 (See
protein sequence)Recommended Name: FAS-associated factor 2 Size: 445 amino acids; 52623 Da
Subunit: Identified in a complex that contains SEL1L, OS9, FAF2/UBXD8, UBE2J1/UBC6E and AUP1. Interacts with YOD1
Subcellular location: Cytoplasm. Lipid droplet. Endoplasmic reticulum
Miscellaneous: Up-regulated in T-cells and eosinophils from patients with atopic dermatitis
Caution: It seems odd to name this protein FAS-associated factor, but not have any mention of this in the CC lines
1 PDB 3D structure from  and Proteopedia  for FAF2:2DAM (3D)
Secondary accessions: O94963 Q8IUF2 Q9BRP2 Q9BVM7Explore the universe of human proteins at neXtProt for FAF2: NX_Q96CS3
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q96CS3
FAF2 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_055428.1
ENSEMBL proteins: ENSP00000424146 ENSP00000261942
Human Recombinant Protein Products:
Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table
FAF2 for ontologies About GeneDecksing
FAF2 Antibody Products:
Assay Products for FAF2: |
Protein
Domains /
Families
for FAF2 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
FAF2 for domains About GeneDecksing
3 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q96CS3ProtoNet protein and cluster: Q96CS3 2 Blocks protein families: IPB000449 Ubiquitin-associated domain IPB001012 UBX domain
UniProtKB/Swiss-Prot: FAF2_HUMAN, Q96CS3Similarity: Contains 1 UBA domainSimilarity: Contains 1 UBX domain |
Function
for FAF2 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: FAF2_HUMAN, Q96CS3Function: May play a role in the translocation of terminally misfolded proteins from the endoplasmic reticulum lumen tothe cytoplasm and their degradation by the proteasome
Clone
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OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for FAF2 (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
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Synthesis Service for FAF2 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FAF2 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FAF2 |
Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table
FAF2 for ontologies About GeneDecksing
Animal Models:
1 MGI mutant phenotype (inferred from 1 allele ) (MGI details for Faf2):
FAF2 for phenotypes About GeneDecksing
|
Pathways & Interactions
for FAF2 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for FAF2
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
5/46 Interacting proteins for FAF2 (Q96CS33 ENSP000002619424) via UniProtKB, MINT, STRING, and/or I2D (see all 46)About this table
Gene Ontology (GO): 1 biological process term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0006986 | response to unfolded protein |
IEA | -- |
FAF2 for ontologies About GeneDecksing
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Drugs & Compounds
for FAF2 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for FAF2
Search CenterWatch for drugs/clinical trials and news about FAF2
|
Transcripts
for FAF2 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for FAF2 gene: NM_014613.2 Unigene Cluster for FAF2: Fas associated factor family member 2 Hs.484242 [show with all ESTs]Unigene Representative Sequence: NM_0146136 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000510730 ENST00000261942(uc003mej.4) ENST00000506061 ENST00000510446
ENST00000504983 ENST00000513627
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for FAF2 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for FAF2 (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: FAF2 (NM_014613) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for FAF2 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FAF2 |
Additional cDNA sequence: AB020694.1 AB088120.1 AK304346.1 BC001069.1 BC006145.1 BC014001.2 BC015791.1 7 DOTS entries: DT.449292 DT.95091731 DT.100672020 DT.100818981 DT.97769935 DT.100818980 DT.40127998 24/394 AceView cDNA sequences (see all 394): BU782666 BM726859 AA310890 AL044055 BF055262 AI629011 CD676365 AI679539 BI711291 BQ003963 BM803105 BU629702 BQ478112 BU620754 BM976717 BG112780 CD106955 AW407496 F12869 BU947596 CR618280 T34295 NM_014613 BM505085
GeneLoc Exon Structure
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Expression
for FAF2 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| FAF2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TGATAATTTA
About this image
See FAF2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for FAF2
SOURCE GeneReport for Unigene cluster: Hs.484242
UniProtKB/Swiss-Prot: FAF2_HUMAN, Q96CS3Tissue specificity: Broadly expressed, with highest levels in brain
SABiosciences Custom PCR Arrays for FAF2
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for FAF2
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat FAF2 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat FAF2 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FAF2 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FAF2 |
Orthologs
for FAF2 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of eukaryotes.
Orthologs for FAF2 gene from 8/31 species (see all 31) About this table
ENSEMBL Gene Tree for FAF2 (if available)
TreeFam Gene Tree for FAF2 (if available) |
Paralogs
for FAF2 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for FAF2 gene
- FAF12
FAF2 for paralogs About GeneDecksing
1 Pseudogenes.org Pseudogene for FAF2
PGOHUM00000238582
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Genomic Variants
for FAF2 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 5 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for FAF2 (175874629 - 175937075 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for FAF2: -- | SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing FAF2 |
|
Disorders
/ Diseases
for FAF2 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
FAF2 for disorders About GeneDecksing
OMIM gene information: 609653
OMIM disorders: 252010 256000
4  diseases for FAF2: About MalaCardsatopic dermatitis dermatitis mitochondrial complex i deficiency enophthalmos
1 disease from the University of Copenhagen DISEASES database for FAF2:Enophthalmos Export disorders for FAF2 gene to outside databases
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Publications
for FAF2 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for FAF2 gene, integrated from 9 sources (see all 38):
(articles sorted by number of sources associating them with FAF2) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Cloning and characterization of the highly expressed ETEA gene from blood cells of atopic dermatitis patients. (PubMed id 12372427)1, 2, 3, 9 Imai Y.... Oshida T. (2002)
- 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. (PubMed id 10048485)1, 2, 3 Nagase T....Ohara O. (1998)
- The otubain YOD1 is a deubiquitinating enzyme that associates with p97 to facilitate protein dislocation from the ER. (PubMed id 19818707)1, 2 Ernst R.... Schlieker C. (2009)
- SEL1L nucleates a protein complex required for dislocation of misfolded glycoproteins. (PubMed id 18711132)1, 2 Mueller B.... Ploegh H.L. (2008)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- The RasGAP proteins Ira2 and neurofibromin are negati vely regulated by Gpb1 in yeast and ETEA in humans. (PubMed id 20160012)1, 9 Phan V.T....McCormick F. (2010)
- A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
- Exploring the role of p97 and its UBX-domain cofactors through identification of their interacting proteins. (PubMed id 22350894)1 Alexandru G. (2012)
- The ubiquitin-like (UBX)-domain-containing protein Ubx 2/Ubxd8 regulates lipid droplet homeostasis. (PubMed id 22454508)1 Wang C.W. and Lee S.C. (2012)
- Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (2012)
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External Searches for FAF2 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing FAF2 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing FAF2 gene
(According to HUGE)
About This Section
| |
Specialized Databases showing FAF2 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for FAF2 | Pharmacogenomics, SNPs, Pathways |
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| | |
About This Section
| Patent Information for FAF2 gene:
Search GeneIP for patents involving FAF2
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for FAF2 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
 | |
 |
| | |  | OriGene Antibodies for FAF2 | | OriGene shRNA RFP for FAF2 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for FAF2 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for FAF2 | | | OriGene Protein Over-expression Lysate for FAF2 | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for FAF2 | | OriGene 3'-UTR Clone for FAF2 | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for FAF2 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for FAF2 | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for FAF2 | | OriGene Custom Protein Services for FAF2 | | | OriGene Custom Immunoassay Development | | |
| |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat FAF2 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing FAF2 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FAF2 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat FAF2 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FAF2 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat FAF2 |
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| | | | Search Tocris compounds for FAF2 |
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 | | | FAF2 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FAF2 |
|  |  |  | | | | ThermoFisher Antibodies for FAF2 |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FAF2 |
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