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Aliases for UBQLN2 Gene

Aliases for UBQLN2 Gene

  • Ubiquilin 2 2 3 5
  • Protein Linking IAP With Cytoskeleton 2 3 4
  • Ubiquitin-Like Product Chap1/Dsk2 3 4
  • CHAP1 3 4
  • N4BP4 3 4
  • PLIC2 3 4
  • NEDD4 Binding Protein 4 2
  • Nedd4 Binding Protein 4 3
  • DSK2 Homolog 4
  • HRIHFB2157 3
  • HPLIC-2 4
  • PLIC-2 4
  • ALS15 3
  • DSK2 3

External Ids for UBQLN2 Gene

Previous GeneCards Identifiers for UBQLN2 Gene

  • GC0XP053424
  • GC0XP054556
  • GC0XP055195
  • GC0XP055556
  • GC0XP056473
  • GC0XP053642

Summaries for UBQLN2 Gene

Entrez Gene Summary for UBQLN2 Gene

  • This gene encodes an ubiquitin-like protein (ubiquilin) that shares high degree of similarity with related products in yeast, rat and frog. Ubiquilins contain a N-terminal ubiquitin-like domain and a C-terminal ubiquitin-associated domain. They physically associate with both proteasomes and ubiquitin ligases; and thus, are thought to functionally link the ubiquitination machinery to the proteasome to affect in vivo protein degradation. This ubiquilin has also been shown to bind the ATPase domain of the Hsp70-like Stch protein. [provided by RefSeq, Oct 2009]

GeneCards Summary for UBQLN2 Gene

UBQLN2 (Ubiquilin 2) is a Protein Coding gene. Diseases associated with UBQLN2 include Amyotrophic Lateral Sclerosis 15, With Or Without Frontotemporal Dementia and Ubqln2-Related Amyotrophic Lateral Sclerosis/Frontotemporal Dementia. Among its related pathways are Protein processing in endoplasmic reticulum. GO annotations related to this gene include binding and damaged DNA binding. An important paralog of this gene is UBQLN3.

UniProtKB/Swiss-Prot for UBQLN2 Gene

  • Plays an important role in the regulation of different protein degradation mechanisms and pathways including ubiquitin-proteasome system (UPS), autophagy and the endoplasmic reticulum-associated protein degradation (ERAD) pathway. Mediates the proteasomal targeting of misfolded or accumulated proteins for degradation by binding (via UBA domain) to their polyubiquitin chains and by interacting (via ubiquitin-like domain) with the subunits of the proteasome (PubMed:10983987). Plays a role in the ERAD pathway via its interaction with ER-localized proteins FAF2/UBXD8 and HERPUD1 and may form a link between the polyubiquitinated ERAD substrates and the proteasome (PubMed:24215460, PubMed:18307982). Involved in the regulation of macroautophagy and autophagosome formation; required for maturation of autophagy-related protein LC3 from the cytosolic form LC3-I to the membrane-bound form LC3-II and may assist in the maturation of autophagosomes to autolysosomes by mediating autophagosome-lysosome fusion (PubMed:19148225, PubMed:20529957). Negatively regulates the endocytosis of GPCR receptors: AVPR2 and ADRB2, by specifically reducing the rate at which receptor-arrestin complexes concentrate in clathrin-coated pits (CCPs) (PubMed:18199683).

Gene Wiki entry for UBQLN2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for UBQLN2 Gene

Genomics for UBQLN2 Gene

Regulatory Elements for UBQLN2 Gene

Enhancers for UBQLN2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around UBQLN2 on UCSC Golden Path with GeneCards custom track

Promoters for UBQLN2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around UBQLN2 on UCSC Golden Path with GeneCards custom track

Genomic Location for UBQLN2 Gene

Chromosome:
X
Start:
56,563,593 bp from pter
End:
56,567,868 bp from pter
Size:
4,276 bases
Orientation:
Plus strand

Genomic View for UBQLN2 Gene

Genes around UBQLN2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
UBQLN2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for UBQLN2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for UBQLN2 Gene

Proteins for UBQLN2 Gene

  • Protein details for UBQLN2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UHD9-UBQL2_HUMAN
    Recommended name:
    Ubiquilin-2
    Protein Accession:
    Q9UHD9
    Secondary Accessions:
    • O94798
    • Q5D027
    • Q9H3W6
    • Q9HAZ4

    Protein attributes for UBQLN2 Gene

    Size:
    624 amino acids
    Molecular mass:
    65696 Da
    Quaternary structure:
    • Homodimer. Forms heterodimer with UBQLN1. Binds UBE3A and BTRC. Interacts with the 19S proteasome subunit. Interacts with C9orf72. Interacts with HNRNPA1 and HNRNPU. Found in a complex with UBQLN1 and MAP1LC3A/B/C. Interacts with EPS15, EPN1 and EPN2. Interacts with HERPUD1. Interacts with RAD23A. Interacts with TARDBP. Interacts (via C-terminus) with FAF2 (via N-terminus). Interacts with UBQLN4. Binds CD47 (By similarity).

    Three dimensional structures from OCA and Proteopedia for UBQLN2 Gene

neXtProt entry for UBQLN2 Gene

Proteomics data for UBQLN2 Gene at MOPED

Post-translational modifications for UBQLN2 Gene

Other Protein References for UBQLN2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for UBQLN2 (UBQLN2)

No data available for DME Specific Peptides for UBQLN2 Gene

Domains & Families for UBQLN2 Gene

Gene Families for UBQLN2 Gene

Suggested Antigen Peptide Sequences for UBQLN2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9UHD9

UniProtKB/Swiss-Prot:

UBQL2_HUMAN :
  • The ubiquitin-like domain is essential for its inhibitory effect on GPCR endocytosis. Mediates its association with the subunits of the proteasome.
Domain:
  • The ubiquitin-like domain is essential for its inhibitory effect on GPCR endocytosis. Mediates its association with the subunits of the proteasome.
  • The UBA domain is essential for its association with microtubule-associated protein 1 light chain 3 (MAP1LC3). Mediates its association with ubiquitinated substrates.
  • Dimerization is dependent upon the central region of the protein containing the STI1 domains and is independent of its ubiquitin-like and UBA domains.
  • Contains 4 STI1 domains.
  • Contains 1 UBA domain.
  • Contains 1 ubiquitin-like domain.
genes like me logo Genes that share domains with UBQLN2: view

Function for UBQLN2 Gene

Molecular function for UBQLN2 Gene

UniProtKB/Swiss-Prot Function:
Plays an important role in the regulation of different protein degradation mechanisms and pathways including ubiquitin-proteasome system (UPS), autophagy and the endoplasmic reticulum-associated protein degradation (ERAD) pathway. Mediates the proteasomal targeting of misfolded or accumulated proteins for degradation by binding (via UBA domain) to their polyubiquitin chains and by interacting (via ubiquitin-like domain) with the subunits of the proteasome (PubMed:10983987). Plays a role in the ERAD pathway via its interaction with ER-localized proteins FAF2/UBXD8 and HERPUD1 and may form a link between the polyubiquitinated ERAD substrates and the proteasome (PubMed:24215460, PubMed:18307982). Involved in the regulation of macroautophagy and autophagosome formation; required for maturation of autophagy-related protein LC3 from the cytosolic form LC3-I to the membrane-bound form LC3-II and may assist in the maturation of autophagosomes to autolysosomes by mediating autophagosome-lysosome fusion (PubMed:19148225, PubMed:20529957). Negatively regulates the endocytosis of GPCR receptors: AVPR2 and ADRB2, by specifically reducing the rate at which receptor-arrestin complexes concentrate in clathrin-coated pits (CCPs) (PubMed:18199683).
UniProtKB/Swiss-Prot Induction:
Highly expressed in mitotic cells from metaphase to telophase. Expression in non-mitotic cells is very low.
genes like me logo Genes that share phenotypes with UBQLN2: view

Human Phenotype Ontology for UBQLN2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for UBQLN2 Gene

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for UBQLN2 Gene

Localization for UBQLN2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for UBQLN2 Gene

Cytoplasm. Nucleus. Membrane. Cytoplasmic vesicle, autophagosome. Note=Colocalizes with a subset of proteasomes, namely those that are cytoskeleton associated or free in the cytosol. Associated with fibers in mitotic cells. {ECO:0000269 PubMed:10983987}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for UBQLN2 Gene COMPARTMENTS Subcellular localization image for UBQLN2 gene
Compartment Confidence
plasma membrane 5
cytosol 4
nucleus 4
vacuole 4
cytoskeleton 1
endoplasmic reticulum 1
endosome 1
lysosome 1

Gene Ontology (GO) - Cellular Components for UBQLN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005776 autophagosome IEA --
genes like me logo Genes that share ontologies with UBQLN2: view

Pathways & Interactions for UBQLN2 Gene

genes like me logo Genes that share pathways with UBQLN2: view

Pathways by source for UBQLN2 Gene

1 KEGG pathway for UBQLN2 Gene

Gene Ontology (GO) - Biological Process for UBQLN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006914 autophagy IEA --
GO:0016241 regulation of macroautophagy IMP 20529957
GO:1900186 negative regulation of clathrin-mediated endocytosis IMP 18199683
GO:1903071 positive regulation of ER-associated ubiquitin-dependent protein catabolic process IMP 18307982
GO:2000785 regulation of autophagosome assembly IMP 20529957
genes like me logo Genes that share ontologies with UBQLN2: view

No data available for SIGNOR curated interactions for UBQLN2 Gene

Drugs & Compounds for UBQLN2 Gene

No Compound Related Data Available

Transcripts for UBQLN2 Gene

mRNA/cDNA for UBQLN2 Gene

(1) REFSEQ mRNAs :
(8) Additional mRNA sequences :
(62) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for UBQLN2 Gene

Ubiquilin 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for UBQLN2 Gene

No ASD Table

Relevant External Links for UBQLN2 Gene

GeneLoc Exon Structure for
UBQLN2
ECgene alternative splicing isoforms for
UBQLN2

Expression for UBQLN2 Gene

mRNA expression in normal human tissues for UBQLN2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for UBQLN2 Gene

This gene is overexpressed in Bone (24.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for UBQLN2 Gene



SOURCE GeneReport for Unigene cluster for UBQLN2 Gene Hs.179309

genes like me logo Genes that share expression patterns with UBQLN2: view

Protein tissue co-expression partners for UBQLN2 Gene

- Elite partner

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for UBQLN2 Gene

Orthologs for UBQLN2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for UBQLN2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia UBQLN2 35
  • 92.36 (n)
  • 96.47 (a)
UBQLN2 36
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia UBQLN2 35
  • 93.14 (n)
  • 97.27 (a)
UBQLN2 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ubqln2 35
  • 86.1 (n)
  • 88.89 (a)
Ubqln2 16
Ubqln2 36
  • 87 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia UBQLN2 35
  • 99.79 (n)
  • 99.84 (a)
UBQLN2 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ubqln2 35
  • 86.21 (n)
  • 87.76 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 81 (a)
ManyToMany
-- 36
  • 74 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 79 (a)
OneToMany
chicken
(Gallus gallus)
Aves -- 36
  • 75 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 75 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG14224 37
  • 48 (a)
CG31528 36
  • 28 (a)
ManyToMany
Ubqn 36
  • 50 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea ubql-1 35
  • 49.02 (n)
  • 41.99 (a)
ubql-1 36
  • 39 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes DSK2 36
  • 29 (a)
OneToMany
DSK2 38
thale cress
(Arabidopsis thaliana)
eudicotyledons DSK2 35
  • 48.49 (n)
  • 44.19 (a)
rice
(Oryza sativa)
Liliopsida Os10g0542200 35
  • 48.76 (n)
  • 43.46 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10824 36
  • 48 (a)
OneToMany
Species with no ortholog for UBQLN2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • zebrafish (Danio rerio)

Evolution for UBQLN2 Gene

ENSEMBL:
Gene Tree for UBQLN2 (if available)
TreeFam:
Gene Tree for UBQLN2 (if available)

Paralogs for UBQLN2 Gene

Paralogs for UBQLN2 Gene

(3) SIMAP similar genes for UBQLN2 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with UBQLN2: view

Variants for UBQLN2 Gene

Sequence variations from dbSNP and Humsavar for UBQLN2 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
VAR_052680 -
VAR_066562 Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia (ALS15)
VAR_066563 Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia (ALS15)
VAR_066564 Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia (ALS15)
VAR_066565 Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia (ALS15)

Structural Variations from Database of Genomic Variants (DGV) for UBQLN2 Gene

Variant ID Type Subtype PubMed ID
nsv6916 CNV Loss 18451855
nsv510538 CNV Loss 20534489

Variation tolerance for UBQLN2 Gene

Residual Variation Intolerance Score: 13.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.35; 7.69% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for UBQLN2 Gene

Human Gene Mutation Database (HGMD)
UBQLN2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for UBQLN2 Gene

Disorders for UBQLN2 Gene

MalaCards: The human disease database

(10) MalaCards diseases for UBQLN2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
amyotrophic lateral sclerosis 15, with or without frontotemporal dementia
  • als15
ubqln2-related amyotrophic lateral sclerosis/frontotemporal dementia
  • amyotrophic lateral sclerosis 15, with or without frontotemporal dementia
amyotrophic lateral sclerosis 1
  • amyotrophic lateral sclerosis
lateral sclerosis
  • motor neuron disease
amyotrophic lateral sclerosis type 14
  • als14
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

UBQL2_HUMAN
  • Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia (ALS15) [MIM:300857]: A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. Patients with ALS15 may develop frontotemporal dementia. {ECO:0000269 PubMed:21857683, ECO:0000269 PubMed:22560112, ECO:0000269 PubMed:22717235, ECO:0000269 PubMed:22892309, ECO:0000269 PubMed:24215460, ECO:0000269 PubMed:25616961}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for UBQLN2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
UBQLN2
genes like me logo Genes that share disorders with UBQLN2: view

No data available for Genatlas for UBQLN2 Gene

Publications for UBQLN2 Gene

  1. A family of ubiquitin-like proteins binds the ATPase domain of Hsp70- like Stch. (PMID: 10675567) Kaye F.J. … Rose M.D. (FEBS Lett. 2000) 2 3 4 67
  2. The ubiquitin-like protein PLIC-2 is a negative regulator of G protein-coupled receptor endocytosis. (PMID: 18199683) N'Diaye E.N. … Brown E.J. (Mol. Biol. Cell 2008) 3 23
  3. Structural studies of the interaction between ubiquitin family proteins and proteasome subunit S5a. (PMID: 11827521) Walters K.J. … Howley P.M. (Biochemistry 2002) 3 23
  4. Identification of ubiquitin-like protein-binding subunits of the 26S proteasome. (PMID: 12200120) Saeki Y. … Yokosawa H. (Biochem. Biophys. Res. Commun. 2002) 3 23
  5. The hPLIC proteins may provide a link between the ubiquitination machinery and the proteasome. (PMID: 10983987) Kleijnen M.F. … Howley P.M. (Mol. Cell 2000) 3 23

Products for UBQLN2 Gene

Sources for UBQLN2 Gene

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