Faf2 Fas associated factor family member 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Faf2provided by MGI
Official Full Name: Fas associated factor family member 2provided by MGI
Primary source: MGI:MGI:1923827
See related: Ensembl:ENSMUSG00000025873 AllianceGenome:MGI:1923827
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Ubxd8; mKIAA0887; 2210404D11Rik
Summary: Predicted to enable enzyme binding activity; lipase inhibitor activity; and ubiquitin binding activity. Involved in proteasome-mediated ubiquitin-dependent protein catabolic process. Predicted to be located in endoplasmic reticulum and lipid droplet. Predicted to be part of VCP-NPL4-UFD1 AAA ATPase complex. Orthologous to human FAF2 (Fas associated factor family member 2). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in CNS E11.5 (RPKM 14.7), limb E14.5 (RPKM 14.3) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 13; 13 B1

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
109	current	GRCm39 (GCF_000001635.27)	13	NC_000079.7 (54769597..54811876)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	13	NC_000079.6 (54621784..54664063)

Chromosome 13 - NC_000079.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Ubxn3b(-/-), like Sting(-/-) mice, are highly susceptible to lethal herpes simplex virus 1 (HSV-1) and vesicular stomatitis virus (VSV) infection, which is correlated with deficient immune responses when compared to Ubxn3b(+/+) littermates.
Title: UBXN3B positively regulates STING-mediated antiviral immune responses.
The results indicate that although UBXD8 functionality can be largely compensated in the normal setting, it is crucial to sustain VLDL secretion when exposed to a dietary challenge of high fat.
Title: Hepatocyte-specific depletion of ubiquitin regulatory X domain containing protein 8 accelerates fibrosis in a mouse non-alcoholic steatohepatitis model.
Depletion of UBXD8 in hepatocytes suppresses VLDL secretion, and could lead to periportal steatosis when mice are fed a high-fat diet.
Title: Hepatocyte-Specific Depletion of UBXD8 Induces Periportal Steatosis in Mice Fed a High-Fat Diet.

Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Transgenic (1) 1 citation
Targeted (1) 1 citation
Endonuclease-mediated (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AI462440 (e-PCR)
- UniSTS:160305

D13Mit96 (e-PCR), detects polymorphism
- UniSTS:127194

D13Mit96.1 (e-PCR), detects polymorphism
- UniSTS:127195

Homology

Homologs of the Faf2 gene: The Faf2 gene is conserved in human, chimpanzee, Rhesus monkey, dog, cow, rat, chicken, zebrafish, fruit fly, mosquito, S.pombe, M.oryzae, N.crassa, A.thaliana, rice, and frog.
Orthologs from Annotation Pipeline: 495 organisms have orthologs with human gene Faf2
Orthologs

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables lipase binding	ISO Inferred from Sequence Orthology more info
enables lipase inhibitor activity	ISO Inferred from Sequence Orthology more info
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	ISO Inferred from Sequence Orthology more info
enables ubiquitin protein ligase binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within lipid droplet organization	ISO Inferred from Sequence Orthology more info
involved_in proteasome-mediated ubiquitin-dependent protein catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within response to unfolded protein	IEA Inferred from Electronic Annotation more info
involved_in retrograde protein transport, ER to cytosol	ISO Inferred from Sequence Orthology more info
involved_in ubiquitin-dependent ERAD pathway	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in ubiquitin-dependent ERAD pathway	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
part_of VCP-NPL4-UFD1 AAA ATPase complex	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
is_active_in endoplasmic reticulum	IBA Inferred from Biological aspect of Ancestor more info	PubMed
located_in endoplasmic reticulum	ISO Inferred from Sequence Orthology more info
located_in lipid droplet	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: FAS-associated factor 2

Names: UBX domain containing 8; UBX domain-containing protein 8; protein 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)

NM_178397.3 → NP_848484.2 FAS-associated factor 2

See identical proteins and their annotated locations for NP_848484.2

Status: VALIDATED

Source sequence(s)

AK148529, BC046817, BY139990

Consensus CDS

CCDS36668.1

UniProtKB/Swiss-Prot

Q3TDN2, Q80W42

UniProtKB/TrEMBL

A0A6P5QWY7

Related

ENSMUSP00000121182.2, ENSMUST00000126071.9

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: Mus musculus Annotation Release 109 details...

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

Reference GRCm39 C57BL/6J

Genomic

NC_000079.7 Reference GRCm39 C57BL/6J

Range

54769597..54811876

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011244582.4 → XP_011242884.1 FAS-associated factor 2 isoform X1

See identical proteins and their annotated locations for XP_011242884.1

UniProtKB/TrEMBL

A0A6P7PS06

Conserved Domains (3) summary

cd02991
Location:126 → 241

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:334 → 413

UBX_UBXN3B; Ubiquitin regulatory domain X (UBX) found in FAS associated factor 2 (FAF2, also known as UBXN3B) and similar proteins

cl21463
Location:1 → 24

UBA_like_SF; UBA domain-like superfamily
XM_030247458.2 → XP_030103318.1 FAS-associated factor 2 isoform X2

Conserved Domains (2) summary

cd16120
Location:157 → 236

UBX_UBXN3B; Ubiquitin regulatory domain X (UBX) found in FAS associated factor 2 (FAF2, also known as UBXN3B) and similar proteins

cl00388
Location:1 → 64

Thioredoxin_like; Protein Disulfide Oxidoreductases and Other Proteins with a Thioredoxin fold
XM_030247459.2 → XP_030103319.1 FAS-associated factor 2 isoform X2

Conserved Domains (2) summary

cd16120
Location:157 → 236

UBX_UBXN3B; Ubiquitin regulatory domain X (UBX) found in FAS associated factor 2 (FAF2, also known as UBXN3B) and similar proteins

cl00388
Location:1 → 64

Thioredoxin_like; Protein Disulfide Oxidoreductases and Other Proteins with a Thioredoxin fold
XM_036158220.1 → XP_036014113.1 FAS-associated factor 2 isoform X2

Conserved Domains (2) summary

cd16120
Location:157 → 236

UBX_UBXN3B; Ubiquitin regulatory domain X (UBX) found in FAS associated factor 2 (FAF2, also known as UBXN3B) and similar proteins

cl00388
Location:1 → 64

Thioredoxin_like; Protein Disulfide Oxidoreductases and Other Proteins with a Thioredoxin fold
XM_011244583.4 → XP_011242885.1 FAS-associated factor 2 isoform X1

See identical proteins and their annotated locations for XP_011242885.1

UniProtKB/TrEMBL

A0A6P7PS06

Conserved Domains (3) summary

cd02991
Location:126 → 241

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:334 → 413

UBX_UBXN3B; Ubiquitin regulatory domain X (UBX) found in FAS associated factor 2 (FAF2, also known as UBXN3B) and similar proteins

cl21463
Location:1 → 24

UBA_like_SF; UBA domain-like superfamily
XM_030247460.2 → XP_030103320.1 FAS-associated factor 2 isoform X2

Conserved Domains (2) summary

cd16120
Location:157 → 236

UBX_UBXN3B; Ubiquitin regulatory domain X (UBX) found in FAS associated factor 2 (FAF2, also known as UBXN3B) and similar proteins

cl00388
Location:1 → 64

Thioredoxin_like; Protein Disulfide Oxidoreductases and Other Proteins with a Thioredoxin fold
XM_006517452.5 → XP_006517515.1 FAS-associated factor 2 isoform X1

See identical proteins and their annotated locations for XP_006517515.1

UniProtKB/TrEMBL

A0A6P7PS06

Conserved Domains (3) summary

cd02991
Location:126 → 241

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:334 → 413

UBX_UBXN3B; Ubiquitin regulatory domain X (UBX) found in FAS associated factor 2 (FAF2, also known as UBXN3B) and similar proteins

cl21463
Location:1 → 24

UBA_like_SF; UBA domain-like superfamily