Ubqln2 ubiquilin 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Ubqln2provided by MGI
Official Full Name: ubiquilin 2provided by MGI
Primary source: MGI:MGI:1860283
See related: Ensembl:ENSMUSG00000050148 AllianceGenome:MGI:1860283
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: Dsk2; Chap1; Plic2; Plic-2; HRIHFB2157
Summary: Predicted to enable identical protein binding activity; molecular condensate scaffold activity; and polyubiquitin modification-dependent protein binding activity. Predicted to be involved in several processes, including negative regulation of receptor-mediated endocytosis; positive regulation of ERAD pathway; and proteolysis involved in protein catabolic process. Predicted to be located in cytoplasm and plasma membrane. Predicted to be active in cytosol. Is expressed in telencephalon. Human ortholog(s) of this gene implicated in amyotrophic lateral sclerosis and amyotrophic lateral sclerosis type 15. Orthologous to human UBQLN2 (ubiquilin 2). [provided by Alliance of Genome Resources, Dec 2024]
Orthologs: human all
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Genomic context

Location:: X F3; X 68.46 cM

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	X	NC_000086.8 (152281228..152284558)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	X	NC_000086.7 (153498232..153501562)

Chromosome X - NC_000086.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Ubiquilin-2 regulates pathological alpha-synuclein.
Title: Ubiquilin-2 regulates pathological alpha-synuclein.
Disrupting the Balance of Protein Quality Control Protein UBQLN2 Accelerates Tau Proteinopathy.
Title: Disrupting the Balance of Protein Quality Control Protein UBQLN2 Accelerates Tau Proteinopathy.
Serpin neuropathology in the P497S UBQLN2 mouse model of ALS/FTD.
Title: Serpin neuropathology in the P497S UBQLN2 mouse model of ALS/FTD.
Ubiquilin-2 differentially regulates polyglutamine disease proteins.
Title: Ubiquilin-2 differentially regulates polyglutamine disease proteins.
Global proteomics of Ubqln2-based murine models of ALS.
Title: Global proteomics of Ubqln2-based murine models of ALS.
Modeling UBQLN2-mediated neurodegenerative disease in mice: Shared and divergent properties of wild type and mutant UBQLN2 in phase separation, subcellular localization, altered proteostasis pathways, and selective cytotoxicity.
Title: Modeling UBQLN2-mediated neurodegenerative disease in mice: Shared and divergent properties of wild type and mutant UBQLN2 in phase separation, subcellular localization, altered proteostasis pathways, and selective cytotoxicity.
UBQLN2-HSP70 axis reduces poly-Gly-Ala aggregates and alleviates behavioral defects in the C9ORF72 animal model.
Title: UBQLN2-HSP70 axis reduces poly-Gly-Ala aggregates and alleviates behavioral defects in the C9ORF72 animal model.
extra UBQLN2 proteins can exacerbate cytoplasmic TDP-43 accumulations by competing with the UPS for binding to ubiquitin.
Title: Neuronal Expression of UBQLN2(P497H) Exacerbates TDP-43 Pathology in TDP-43(G348C) Mice through Interaction with Ubiquitin.
Results have shown that the two P497S and P506T mutant UBQLN2 Tg mouse lines recapitulate the central features of ALS with frontotemporal dementia (ALS-FTD) found in humans and indicate that these mutant UBQLN2 mice with end stage of disease display a reduction of TDP-43 staining in the nucleus with concomitant formation of cytoplasmic ubiquitin+ inclusions in spinal motor neurons.
Title: Motor neuron disease, TDP-43 pathology, and memory deficits in mice expressing ALS-FTD-linked UBQLN2 mutations.
UBQLN2 most evidently bound to HSP70-type chaperones, UBQLN1 and UBQLN4 and to a lesser extent to proteasomal subunits; UBQLN2 may be involved in the regulation of misfolded proteins. Mutations in UBQLN2, which lead to neurodegeneration in humans, are defective in chaperone binding, impair aggregate clearance, and cause cognitive deficits in mice.
Title: UBQLN2 Mediates Autophagy-Independent Protein Aggregate Clearance by the Proteasome.

Submit: New GeneRIF Correction See all GeneRIFs (15)

Variation

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Alleles

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

Endonuclease-mediated (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables identical protein binding	IEA Inferred from Electronic Annotation more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables molecular condensate scaffold activity	IEA Inferred from Electronic Annotation more info
enables molecular condensate scaffold activity	ISO Inferred from Sequence Orthology more info
enables polyubiquitin modification-dependent protein binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in ERAD pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in ERAD pathway	ISO Inferred from Sequence Orthology more info
involved_in ERAD pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in autophagosome assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in autophagy	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of G protein-coupled receptor internalization	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of G protein-coupled receptor internalization	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of clathrin-dependent endocytosis	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of clathrin-dependent endocytosis	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of ERAD pathway	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of ERAD pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of autophagosome assembly	ISO Inferred from Sequence Orthology more info
involved_in regulation of autophagosome assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of macroautophagy	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of macroautophagy	ISO Inferred from Sequence Orthology more info
involved_in regulation of macroautophagy	ISS Inferred from Sequence or Structural Similarity more info
involved_in ubiquitin-dependent protein catabolic process	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in autophagosome	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
located_in cytoplasmic vesicle	IEA Inferred from Electronic Annotation more info
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IEA Inferred from Electronic Annotation more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in nucleus	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: ubiquilin-2

Names: Ubiquitin-related protein; protein linking IAP with cytoskeleton 2; ubiquitin-like product Chap1/Dsk2

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_018798.2 → NP_061268.2 ubiquilin-2

See identical proteins and their annotated locations for NP_061268.2

Status: VALIDATED

Source sequence(s)

BC053022

Consensus CDS

CCDS30482.1

UniProtKB/Swiss-Prot

B1AY62, Q7TSJ8, Q8VDH9, Q9QZM0

Related

ENSMUSP00000056888.9, ENSMUST00000060714.10

Conserved Domains (4) summary

smart00727
Location:396 → 440

STI1; Heat shock chaperonin-binding motif

cd01808
Location:33 → 103

hPLIC_N; Ubiquitin-like domain of hPLIC-1 and hPLIC2

smart00213
Location:33 → 103

UBQ; Ubiquitin homologues

cd14399
Location:595 → 634

UBA_PLICs; UBA domain of eukaryotic protein linking integrin-associated protein (IAP, also known as CD47) with cytoskeleton (PLIC) proteins