Human Gene FAF2 (ENST00000261942.7_4) from GENCODE V47lift37
  Description: Fas associated factor family member 2 (from RefSeq NM_014613.3)
Gencode Transcript: ENST00000261942.7_4
Gencode Gene: ENSG00000113194.13_8
Transcript (Including UTRs)
   Position: hg19 chr5:175,875,386-175,937,075 Size: 61,690 Total Exon Count: 11 Strand: +
Coding Region
   Position: hg19 chr5:175,875,409-175,933,951 Size: 58,543 Coding Exon Count: 11 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr5:175,875,386-175,937,075)mRNA (may differ from genome)Protein (445 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: FAF2_HUMAN
DESCRIPTION: RecName: Full=FAS-associated factor 2; AltName: Full=Protein ETEA; AltName: Full=UBX domain-containing protein 3B; AltName: Full=UBX domain-containing protein 8;
FUNCTION: May play a role in the translocation of terminally misfolded proteins from the endoplasmic reticulum lumen to the cytoplasm and their degradation by the proteasome.
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.
TISSUE SPECIFICITY: Broadly expressed, with highest levels in brain.
MISCELLANEOUS: Up-regulated in T-cells and eosinophils from patients with atopic dermatitis.
SIMILARITY: Contains 1 UBA domain.
SIMILARITY: Contains 1 UBX domain.
CAUTION: It seems odd to name this protein FAS-associated factor, but not have any mention of this in the CC lines.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: FAF2
Diseases sorted by gene-association score: atopic dermatitis (53), dermatitis (27), enophthalmos (12), orbital disease (9)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 17.83 RPKM in Cells - Cultured fibroblasts
Total median expression: 469.99 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -2.1023-0.091 Picture PostScript Text
3' UTR -924.703124-0.296 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR006577 - UAS
IPR009060 - UBA-like
IPR001012 - UBX

Pfam Domains:
PF00789 - UBX domain
PF14555 - UBA-like domain

SCOP Domains:
46934 - UBA-like
52833 - Thioredoxin-like
54236 - Ubiquitin-like

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2DAM - NMR MuPIT


ModBase Predicted Comparative 3D Structure on Q96CS3
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologGenome Browser
Gene DetailsGene Details Gene Details Gene Details
Gene SorterGene Sorter Gene Sorter Gene Sorter
 RGDEnsembl  SGD
     Protein Sequence
     Alignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0031625 ubiquitin protein ligase binding
GO:0035473 lipase binding
GO:0043130 ubiquitin binding
GO:0055102 lipase inhibitor activity

Biological Process:
GO:0006986 response to unfolded protein
GO:0030433 ER-associated ubiquitin-dependent protein catabolic process
GO:0030970 retrograde protein transport, ER to cytosol
GO:0034389 lipid particle organization
GO:0043086 negative regulation of catalytic activity
GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process
GO:0043312 neutrophil degranulation

Cellular Component:
GO:0005576 extracellular region
GO:0005737 cytoplasm
GO:0005783 endoplasmic reticulum
GO:0005811 lipid particle
GO:0034098 VCP-NPL4-UFD1 AAA ATPase complex
GO:0035578 azurophil granule lumen


-  Descriptions from all associated GenBank mRNAs
  KJ893341 - Synthetic construct Homo sapiens clone ccsbBroadEn_02735 FAF2 gene, encodes complete protein.
BC001069 - Homo sapiens Fas associated factor family member 2, mRNA (cDNA clone MGC:2542 IMAGE:2961467), complete cds.
AK304346 - Homo sapiens cDNA FLJ61076 complete cds, highly similar to UBX domain-containing protein 8.
BC006145 - Homo sapiens Fas associated factor family member 2, mRNA (cDNA clone MGC:13094 IMAGE:3942891), complete cds.
BC014001 - Homo sapiens Fas associated factor family member 2, mRNA (cDNA clone MGC:20495 IMAGE:3936113), complete cds.
AB088120 - Homo sapiens mRNA for ETEA, complete cds.
AB384034 - Synthetic construct DNA, clone: pF1KSDA0887, Homo sapiens UBXD8 gene for UBX domain-containing protein 8, complete cds, without stop codon, in Flexi system.
AB020694 - Homo sapiens mRNA for KIAA0887 protein, partial cds.
DQ892700 - Synthetic construct clone IMAGE:100005330; FLH193006.01X; RZPDo839B0978D UBX domain containing 8 (UBXD8) gene, encodes complete protein.
DQ896293 - Synthetic construct Homo sapiens clone IMAGE:100010753; FLH193002.01L; RZPDo839B0968D UBX domain containing 8 (UBXD8) gene, encodes complete protein.
DQ579077 - Homo sapiens piRNA piR-47189, complete sequence.
JD378410 - Sequence 359434 from Patent EP1572962.
JD432213 - Sequence 413237 from Patent EP1572962.
JD337226 - Sequence 318250 from Patent EP1572962.
JD422719 - Sequence 403743 from Patent EP1572962.
JD483637 - Sequence 464661 from Patent EP1572962.
JD436277 - Sequence 417301 from Patent EP1572962.
JD043557 - Sequence 24581 from Patent EP1572962.
JD175248 - Sequence 156272 from Patent EP1572962.
JD098063 - Sequence 79087 from Patent EP1572962.
JD176900 - Sequence 157924 from Patent EP1572962.
JD408664 - Sequence 389688 from Patent EP1572962.
JD175343 - Sequence 156367 from Patent EP1572962.
JD386773 - Sequence 367797 from Patent EP1572962.
JD101611 - Sequence 82635 from Patent EP1572962.
JD172337 - Sequence 153361 from Patent EP1572962.
JD269302 - Sequence 250326 from Patent EP1572962.
JD108729 - Sequence 89753 from Patent EP1572962.
JD283264 - Sequence 264288 from Patent EP1572962.
JD496625 - Sequence 477649 from Patent EP1572962.
JD380487 - Sequence 361511 from Patent EP1572962.
JD053375 - Sequence 34399 from Patent EP1572962.
BC015791 - Homo sapiens UBX domain containing 8, mRNA (cDNA clone IMAGE:4866083).
JD235386 - Sequence 216410 from Patent EP1572962.
JD060854 - Sequence 41878 from Patent EP1572962.
JD506368 - Sequence 487392 from Patent EP1572962.
JD080118 - Sequence 61142 from Patent EP1572962.
JD323955 - Sequence 304979 from Patent EP1572962.
JD168757 - Sequence 149781 from Patent EP1572962.
JD492426 - Sequence 473450 from Patent EP1572962.
JD443816 - Sequence 424840 from Patent EP1572962.
JD357519 - Sequence 338543 from Patent EP1572962.
JD082898 - Sequence 63922 from Patent EP1572962.
JD462080 - Sequence 443104 from Patent EP1572962.
JD379076 - Sequence 360100 from Patent EP1572962.
JD549174 - Sequence 530198 from Patent EP1572962.
JD047307 - Sequence 28331 from Patent EP1572962.
JD295486 - Sequence 276510 from Patent EP1572962.
JD530697 - Sequence 511721 from Patent EP1572962.
JD503595 - Sequence 484619 from Patent EP1572962.
JD417851 - Sequence 398875 from Patent EP1572962.
JD313567 - Sequence 294591 from Patent EP1572962.
JD209324 - Sequence 190348 from Patent EP1572962.
JD396303 - Sequence 377327 from Patent EP1572962.
JD444971 - Sequence 425995 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q96CS3 (Reactome details) participates in the following event(s):

R-HSA-6798751 Exocytosis of azurophil granule lumen proteins
R-HSA-6798695 Neutrophil degranulation
R-HSA-168249 Innate Immune System
R-HSA-168256 Immune System

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000261942.1, ENST00000261942.2, ENST00000261942.3, ENST00000261942.4, ENST00000261942.5, ENST00000261942.6, ETEA , FAF2 , FAF2_HUMAN, KIAA0887 , NM_014613, O94963, Q8IUF2, Q96CS3, Q9BRP2, Q9BVM7, UBXD8, UBXN3B, uc317gvl.1, uc317gvl.2
UCSC ID: ENST00000261942.7_4
RefSeq Accession: NM_014613.3
Protein: Q96CS3 (aka FAF2_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.