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Aliases for UBQLN2 Gene

Aliases for UBQLN2 Gene

  • Ubiquilin 2 2 3
  • CHAP1 3 4 6
  • PLIC2 3 4 6
  • Protein Linking IAP With Cytoskeleton 2 3 4
  • Ubiquitin-Like Product Chap1/Dsk2 3 4
  • ALS15 3 6
  • N4BP4 3 4
  • NEDD4 Binding Protein 4 2
  • Nedd4 Binding Protein 4 3
  • DSK2 Homolog 4
  • Ubiquilin-2 3
  • HRIHFB2157 3
  • HPLIC-2 4
  • PLIC-2 4
  • 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 amyotrophic lateral sclerosis type 15. Among its related pathways are Protein processing in endoplasmic reticulum. An important paralog of this gene is UBQLN3.

UniProtKB/Swiss-Prot for UBQLN2 Gene

  • Increases the half-life of proteins destined to be degraded by the proteasome; may modulate proteasome-mediated protein degradation.

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

Genomic Location for UBQLN2 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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:
    • Binds UBE3A and BTRC. Interacts with the 19S proteasome subunit. Interacts with C9orf72. Interacts with HNRNPA1 and HNRNPU (PubMed:25616961).

    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

  • Ubiquitination at Lys41, Lys43, Lys66, and Lys79
  • Modification sites at PhosphoSitePlus

Other Protein References for UBQLN2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for UBQLN2 Gene

Domains for UBQLN2 Gene

Gene Families for UBQLN2 Gene

HGNC:
  • UBQLN :Ubiquilin family

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 :
  • Q9UHD9
Domain:
  • 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: Increases the half-life of proteins destined to be degraded by the proteasome; may modulate proteasome-mediated protein degradation.
UniProtKB/Swiss-Prot Induction: Highly expressed in mitotic cells from metaphase to telophase. Expression in non-mitotic cells is very low

Gene Ontology (GO) - Molecular Function for UBQLN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003684 damaged DNA binding --
GO:0005488 binding --
GO:0005515 protein binding IPI 17098253
genes like me logo Genes that share ontologies with UBQLN2: view

Phenotypes for UBQLN2 Gene

GenomeRNAi human phenotypes for UBQLN2:
genes like me logo Genes that share phenotypes with UBQLN2: view

miRNA for UBQLN2 Gene

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for UBQLN2 Gene

Localization for UBQLN2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for UBQLN2 Gene

Cytoplasm. Nucleus. Note=Where it colocalizes with the proteasome. Associated with fibers in mitotic cells.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for UBQLN2 Gene COMPARTMENTS Subcellular localization image for UBQLN2 gene
Compartment Confidence
nucleus 5
cytosol 4
plasma membrane 4

Gene Ontology (GO) - Cellular Components for UBQLN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IDA --
GO:0005886 plasma membrane IDA --
genes like me logo Genes that share ontologies with UBQLN2: view

Pathways 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:0006289 nucleotide-excision repair --
GO:0008219 cell death --
GO:0016241 regulation of macroautophagy IMP 20529957
GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process --
GO:2000785 regulation of autophagic vacuole assembly IMP 20529957
genes like me logo Genes that share ontologies with UBQLN2: view

Transcripts for UBQLN2 Gene

mRNA/cDNA for UBQLN2 Gene

(8) Additional mRNA sequences :
(62) Selected AceView cDNA sequences:
(1) REFSEQ mRNAs :
(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

Integrated Proteomics: protein expression 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 expressions with UBQLN2: view

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
chimpanzee
(Pan troglodytes)
Mammalia UBQLN2 35
  • 99.79 (n)
  • 99.84 (a)
UBQLN2 36
  • 100 (a)
OneToOne
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
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 81 (a)
ManyToMany
-- 36
  • 74 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 79 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Ubqln2 35
  • 86.21 (n)
  • 87.76 (a)
chicken
(Gallus gallus)
Aves -- 36
  • 75 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 75 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG31528 36
  • 28 (a)
ManyToMany
Ubqn 36
  • 50 (a)
ManyToMany
CG14224 37
  • 48 (a)
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

Selected 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 MAF
rs383604 -- 56,563,346(+) CAGAA(A/G)CTGAC upstream-variant-2KB
rs436366 -- 56,563,409(+) ACTGT(G/T)CTGTT upstream-variant-2KB
rs436396 -- 56,563,463(+) ttcag(A/T)gcaga upstream-variant-2KB
rs664429 -- 56,566,972(-) CTAGG(C/G)CCAAA utr-variant-3-prime
rs2234435 -- 56,563,082(+) GATTT(A/C)TTTTT upstream-variant-2KB

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

Relevant External Links for UBQLN2 Gene

HapMap Linkage Disequilibrium report
UBQLN2
Human Gene Mutation Database (HGMD)
UBQLN2
Locus Specific Mutation Databases (LSDB)
UBQLN2

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

Disorders for UBQLN2 Gene

(1) OMIM Diseases for UBQLN2 Gene (300264)

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:25616961}. Note=The disease is caused by mutations affecting the gene represented in this entry.
genes like me logo Genes that share disorders with UBQLN2: view

Publications for UBQLN2 Gene

  1. 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 4 23
  2. Structural studies of the interaction between ubiquitin family proteins and proteasome subunit S5a. (PMID: 11827521) Walters K.J. … Howley P.M. (Biochemistry 2002) 3 4 23
  3. 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
  4. 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
  5. UBQLN2 mutations are rare in French and French-Canadian amyotrophic lateral sclerosis. (PMID: 22560112) Daoud H. … Rouleau G.A. (Neurobiol. Aging 2012) 3 4

Products for UBQLN2 Gene

Sources for UBQLN2 Gene

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