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    FAF2 Fas associated factor family member 2 [ Homo sapiens (human) ]

    Gene ID: 23197, updated on 10-Dec-2024

    Summary

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    Official Symbol
    FAF2provided by HGNC
    Official Full Name
    Fas associated factor family member 2provided by HGNC
    Primary source
    HGNC:HGNC:24666
    See related
    Ensembl:ENSG00000113194 MIM:616935; AllianceGenome:HGNC:24666
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ETEA; UBXD8; UBXN3B
    Summary
    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]
    Expression
    Ubiquitous expression in testis (RPKM 15.6), thyroid (RPKM 13.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See FAF2 in Genome Data Viewer
    Location:
    5q35.2
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (176448385..176510074)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (176992793..177054650)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (175875386..175937075)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene MED14-independent group 3 enhancer GRCh37_chr5:175815238-175816437 Neighboring gene ARF like GTPase 10 Neighboring gene HIG1 hypoxia inducible domain family member 2A Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16650 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16651 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16652 Neighboring gene clathrin light chain B Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr5:175861163-175861909 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23684 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23685 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16653 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23686 Neighboring gene uncharacterized LOC124901142 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:175918968-175920167 Neighboring gene MPRA-validated peak5588 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23687 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:175961121-175961790 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16654 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16655 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23688 Neighboring gene uncharacterized LOC124901143 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23689 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:175968985-175969591 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16656 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16657 Neighboring gene ring finger protein 44 Neighboring gene RNA, 7SL, cytoplasmic 684, pseudogene Neighboring gene cadherin related family member 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Role of ubiquitin regulatory X domain‑containing protein 3B in the development of hepatocellular carcinoma (Review). Guo Z, et al. Oncol Rep, 2023 Mar. PMID 36799187, Free PMC Article
    2. Identification of Ubxd8 protein as a sensor for unsaturated fatty acids and regulator of triglyceride synthesis. Lee JN, et al. Proc Natl Acad Sci U S A, 2010 Dec 14. PMID 21115839, Free PMC Article
    3. Cellular responses to excess fatty acids: focus on ubiquitin regulatory X domain-containing protein 8. Kim H, et al. Curr Opin Lipidol, 2014 Apr. PMID 24378746
    4. Haploid Mammalian Genetic Screen Identifies UBXD8 as a Key Determinant of HMGCR Degradation and Cholesterol Biosynthesis. Loregger A, et al. Arterioscler Thromb Vasc Biol, 2017 Nov. PMID 28882874, Free PMC Article
    5. The Brucella abortus Type IV Effector BspA Inhibits MARCH6-Dependent ERAD To Promote Intracellular Growth. Kambarev S, et al. Infect Immun, 2023 May 16. PMID 37129527, Free PMC Article

    See all (193) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. UBXN3B Controls Immunopathogenesis of Arthritogenic Alphaviruses by Maintaining Hematopoietic Homeostasis.
      Title: UBXN3B Controls Immunopathogenesis of Arthritogenic Alphaviruses by Maintaining Hematopoietic Homeostasis.
    2. Role of ubiquitin regulatory X domaincontaining protein 3B in the development of hepatocellular carcinoma (Review).
      Title: Role of ubiquitin regulatory X domain‑containing protein 3B in the development of hepatocellular carcinoma (Review).
    3. Ubiquitination of G3BP1 mediates stress granule disassembly in a context-specific manner.
      Title: Ubiquitination of G3BP1 mediates stress granule disassembly in a context-specific manner.
    4. We present physiological evidence that UBXN3B positively regulates stimulator-of-interferon genes (STING) signaling. Mechanistic studies demonstrate that UBXN3B interacts with both STING and its E3 ligase TRIM56, and facilitates STING ubiquitination, dimerization, trafficking, and consequent recruitment and phosphorylation of TBK1.
      Title: UBXN3B positively regulates STING-mediated antiviral immune responses.
    5. UBXD8 is necessary for sterol-stimulated dislocation of ubiquitylated HMGCR from the endoplasmic reticulum membrane en route to proteasomal degradation, a function dependent on its UBX domain.
      Title: Haploid Mammalian Genetic Screen Identifies UBXD8 as a Key Determinant of HMGCR Degradation and Cholesterol Biosynthesis.
    6. that newly synthesized UBXD8 is post-translationally inserted into discrete ER subdomains by a mechanism requiring cytosolic PEX19 and membrane-integrated PEX3, proteins hitherto exclusively implicated in peroxisome biogenesis
      Title: Peroxin-dependent targeting of a lipid-droplet-destined membrane protein to ER subdomains.
    7. role of UBXD8 in cellular responses to excess fatty acids
      Title: Cellular responses to excess fatty acids: focus on ubiquitin regulatory X domain-containing protein 8.
    8. the UAS domain of Ubxd8 mediates it's polymerization upon interaction with long-chain unsaturated fatty acids
      Title: UAS domain of Ubxd8 and FAF1 polymerizes upon interaction with long-chain unsaturated fatty acids.
    9. UBXD8-mediated recruitment of p97/VCP to LDs increases lipid droplet (LD) size by inhibiting the activity of adipose triglyceride lipase (ATGL), the rate-limiting enzyme in triacylglycerol hydrolysis.
      Title: Spatial regulation of UBXD8 and p97/VCP controls ATGL-mediated lipid droplet turnover.
    10. Ubx2 and Ubxd8 regulates lipid droplet homeostasis.
      Title: The ubiquitin-like (UBX)-domain-containing protein Ubx2/Ubxd8 regulates lipid droplet homeostasis.
    Submit: New GeneRIF Correction See all GeneRIFs (14)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA0887

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables lipase binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables lipase inhibitor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein-macromolecule adaptor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables ubiquitin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables ubiquitin binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables ubiquitin protein ligase binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in ERAD pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in ERAD pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within lipid droplet organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in proteasome-mediated ubiquitin-dependent protein catabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to unfolded protein IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in retrograde protein transport, ER to cytosol IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in stress granule disassembly IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of VCP-NPL4-UFD1 AAA ATPase complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in azurophil granule lumen TAS
    Traceable Author Statement
    more info
    		  
    is_active_in endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in extracellular region TAS
    Traceable Author Statement
    more info
    		  
    located_in lipid droplet IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    FAS-associated factor 2
    Names
    UBX domain containing 8
    UBX domain protein 3B
    UBX domain-containing protein 3B
    UBX domain-containing protein 8
    expressed in T-cells and eosinophils in atopic dermatitis

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_014613.3 → NP_055428.1  FAS-associated factor 2

      See identical proteins and their annotated locations for NP_055428.1

      Status: REVIEWED

      Source sequence(s)
      AC010316, AL706430, BC014001
      Consensus CDS
      CCDS34296.1
      UniProtKB/Swiss-Prot
      O94963, Q8IUF2, Q96CS3, Q9BRP2, Q9BVM7
      Related
      ENSP00000261942.6, ENST00000261942.7
      Conserved Domains (3) summary
      cd02991
      Location:154 → 269
      UAS_ETEA; UAS family, ETEA subfamily; composed of proteins similar to human ETEA protein, the translation product of a highly expressed gene in the T-cells and eosinophils of atopic dermatitis patients compared with those of normal individuals. ETEA shows homology ...
      cd14414
      Location:15 → 52
      UBA_FAF2; UBA-like TAP-C domain found in FAS-associated factor 2 (FAF2) and similar proteins
      cd16120
      Location:362 → 441
      UBX_UBXN3B; Ubiquitin regulatory domain X (UBX) found in FAS associated factor 2 (FAF2, also known as UBXN3B) and similar proteins

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      176448385..176510074
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011534475.4 → XP_011532777.1  FAS-associated factor 2 isoform X1

      Conserved Domains (3) summary
      cd02991
      Location:109 → 224
      UAS_ETEA; UAS family, ETEA subfamily; composed of proteins similar to human ETEA protein, the translation product of a highly expressed gene in the T-cells and eosinophils of atopic dermatitis patients compared with those of normal individuals. ETEA shows homology ...
      cd16120
      Location:317 → 396
      UBX_UBXN3B; Ubiquitin regulatory domain X (UBX) found in FAS associated factor 2 (FAF2, also known as UBXN3B) and similar proteins
      cl21463
      Location:15 → 44
      UBA_like_SF; UBA domain-like superfamily

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      176992793..177054650
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054352174.1 → XP_054208149.1  FAS-associated factor 2 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96CS3.2 GenPept UniProtKB/Swiss-Prot:Q96CS3

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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