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

Gene ID: 23197, updated on 28-Nov-2021

Summary

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
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

See FAF2 in Genome Data Viewer
Location:
5q35.2
Exon count:
11
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (176448328..176510074)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (175875386..175937075)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene ADP ribosylation factor like GTPase 10 Neighboring gene HIG1 hypoxia inducible domain family member 2A Neighboring gene clathrin light chain B 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

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 ubiquitin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
acts_upstream_of_or_within lipid droplet organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of catalytic activity 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 ubiquitin-dependent ERAD pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in ubiquitin-dependent ERAD pathway IMP
Inferred from Mutant Phenotype
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
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

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_014613.3NP_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
    Q96CS3
    Related
    ENSP00000261942.6, ENST00000261942.7
    Conserved Domains (3) summary
    cd02991
    Location:154269
    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:1552
    UBA_FAF2; UBA-like TAP-C domain found in FAS-associated factor 2 (FAF2) and similar proteins
    cd16120
    Location:362441
    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: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

    Range
    176448328..176510074
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011534475.3XP_011532777.1  FAS-associated factor 2 isoform X1

    Conserved Domains (3) summary
    cd02991
    Location:109224
    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:317396
    UBX_UBXN3B; Ubiquitin regulatory domain X (UBX) found in FAS associated factor 2 (FAF2, also known as UBXN3B) and similar proteins
    cl21463
    Location:1544
    UBA_like_SF; UBA domain-like superfamily
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