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

Gene ID: 23197, updated on 11-Apr-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
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Genomic context

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Location:
5q35.2
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (176448385..176510074)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (176992793..177054650)
105.20220307 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 ADP ribosylation factor 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: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 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. 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
  3. 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
  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. UBXN3B Controls Immunopathogenesis of Arthritogenic Alphaviruses by Maintaining Hematopoietic Homeostasis. Geng T, et al. mBio, 2022 Dec 20. PMID 36377866, Free PMC Article

See all (166) 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)

Genotypes

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_2023_10

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

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