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 machine... See more...

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
  • Ubiquilin-2 3 4
  • N4BP4 3 4
  • PLIC2 3 4
  • Nedd4 Binding Protein 4 3
  • NEDD4 Binding Protein 4 2
  • DSK2 Homolog 4
  • HRIHFB2157 3
  • HPLIC-2 4
  • PLIC-2 4
  • ALS15 3
  • CHAP1 3
  • Chap1 4
  • DSK2 3

External Ids for UBQLN2 Gene

Previous GeneCards Identifiers for UBQLN2 Gene

  • GC0XP053424
  • GC0XP054556
  • GC0XP055195
  • GC0XP055556
  • GC0XP056473
  • GC0XP056606
  • 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 1. Among its related pathways are Vesicle-mediated transport and Protein processing in endoplasmic reticulum. Gene Ontology (GO) annotations related to this gene include binding and damaged DNA binding. An important paralog of this gene is UBQLN1.

UniProtKB/Swiss-Prot Summary 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

Additional gene information for UBQLN2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for UBQLN2 Gene

Genomics for UBQLN2 Gene

GeneHancer (GH) Regulatory Elements for UBQLN2 Gene

Promoters and enhancers for UBQLN2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XJ056562 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 500.7 +1.7 1702 5.4 HNRNPK EP300 CTCF POLR2G PHF8 ZFX ZNF10 POLR2A AFF1 ZBTB26 UBQLN2 NBDY SPIN2B piR-39341-458
GH0XJ057136 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE CraniofacialAtlas 10.4 +573.6 573626 2 USF1 POLR2A ZBTB33 CTCF SPIN2A UBQLN2 lnc-SPIN2A-2 FAAH2
GH0XJ056728 Promoter/Enhancer 2 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 5.9 +166.3 166308 3.8 ZBTB40 ZSCAN5C USF1 PHF8 ZFX ZNF510 CHD1 POLR2A BCL11A SP2 NBDY NONHSAG054609.2 SPIN2B MTHFD1P1 UBQLN2 ENSG00000226310 lnc-UBQLN2-4
GH0XJ056503 Enhancer 0.6 Ensembl ENCODE 14.7 -58.7 -58679 2.8 NFE2 CTCF STAT1 FOS STAT3 piR-36564-025 SPIN2B MTHFD1P1 UBQLN2 NBDY L13713-249
GH0XJ056067 Enhancer 0.9 Ensembl ENCODE dbSUPER 8.2 -495.7 -495692 4.6 TCF12 EBF1 IKZF1 NR2F1 ZNF146 TBX21 PBX3 TARDBP PKNOX1 RUNX3 MAGEH1 ENSG00000227486 UBQLN2 piR-52368-177 piR-61532-349
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around UBQLN2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for UBQLN2

Top Transcription factor binding sites by QIAGEN in the UBQLN2 gene promoter:
  • AREB6
  • HOXA9
  • HOXA9B
  • Meis-1
  • Meis-1b
  • MyoD
  • POU2F1
  • POU3F2
  • POU3F2 (N-Oct-5a)
  • POU3F2 (N-Oct-5b)

Genomic Locations for UBQLN2 Gene

Genomic Locations for UBQLN2 Gene
chrX:56,563,593-56,567,868
(GRCh38/hg38)
Size:
4,276 bases
Orientation:
Plus strand
chrX:56,590,026-56,593,443
(GRCh37/hg19)
Size:
3,418 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

Post-translational modifications for UBQLN2 Gene

Other Protein References for UBQLN2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for UBQLN2 Gene

Domains & Families for UBQLN2 Gene

Gene Families for UBQLN2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for UBQLN2 Gene

Blocks:
  • Ubiquitin domain
  • Ubiquitin-associated domain
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for UBQLN2 Gene

GenScript: Design optimal peptide antigens:
  • Ubiquitin-like product Chap1/Dsk2 (UBQL2_HUMAN)

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.
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.

Phenotypes From GWAS Catalog for UBQLN2 Gene

Gene Ontology (GO) - Molecular Function for UBQLN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA,IPI 17098253
GO:0031593 polyubiquitin modification-dependent protein binding IBA 21873635
genes like me logo Genes that share ontologies with UBQLN2: view
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

CRISPR Products

miRNA for UBQLN2 Gene

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for UBQLN2

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for UBQLN2 gene
Compartment Confidence
plasma membrane 5
cytosol 5
nucleus 4
cytoskeleton 2
mitochondrion 2
endoplasmic reticulum 2
endosome 2
lysosome 2
extracellular 1
peroxisome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (4)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for UBQLN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IDA,IEA 18199683
GO:0005776 autophagosome IEA --
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane IDA --
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

Gene Ontology (GO) - Biological Process for UBQLN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000045 autophagosome assembly IBA 21873635
GO:0006511 ubiquitin-dependent protein catabolic process IBA 21873635
GO:0006914 autophagy IEA --
GO:0016241 regulation of macroautophagy IBA,IMP 20529957
GO:0030433 ubiquitin-dependent ERAD pathway IMP,IBA 24215460
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 :
10 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for UBQLN2

Clone Products

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

No ASD Table

Relevant External Links for UBQLN2 Gene

GeneLoc Exon Structure for
UBQLN2

Expression for UBQLN2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for UBQLN2 Gene



Protein tissue co-expression partners for UBQLN2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for UBQLN2

SOURCE GeneReport for Unigene cluster for UBQLN2 Gene:

Hs.179309

Evidence on tissue expression from TISSUES for UBQLN2 Gene

  • Nervous system(4.8)
  • Lung(4.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for UBQLN2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • epiglottis
  • face
  • head
  • jaw
  • larynx
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • pharynx
  • skull
  • tongue
  • vocal cord
Thorax:
  • bronchus
  • clavicle
  • esophagus
  • heart
  • lung
  • scapula
  • trachea
Abdomen:
  • biliary tract
  • liver
  • stomach
Limb:
  • arm
  • digit
  • finger
  • foot
  • forearm
  • hand
  • humerus
  • lower limb
  • shin
  • shoulder
  • thigh
  • toe
  • upper limb
General:
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • spinal cord
genes like me logo Genes that share expression patterns 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 31 30
  • 99.79 (n)
OneToOne
dog
(Canis familiaris)
Mammalia UBQLN2 31 30
  • 93.14 (n)
OneToOne
cow
(Bos Taurus)
Mammalia UBQLN2 31 30
  • 92.36 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ubqln2 30
  • 86.21 (n)
mouse
(Mus musculus)
Mammalia Ubqln2 17 31 30
  • 86.1 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 81 (a)
ManyToMany
-- 31
  • 74 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 79 (a)
OneToMany
chicken
(Gallus gallus)
Aves -- 31
  • 75 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 31
  • 75 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Ubqn 31
  • 50 (a)
ManyToMany
CG14224 32
  • 48 (a)
CG31528 31
  • 28 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea ubql-1 31 30
  • 49.02 (n)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes DSK2 33 31
  • 29 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons DSK2 30
  • 48.49 (n)
rice
(Oryza sativa)
Liliopsida Os10g0542200 30
  • 48.76 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10824 31
  • 48 (a)
OneToMany
Species where no ortholog for UBQLN2 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for UBQLN2: view image

Paralogs for UBQLN2 Gene

Paralogs for UBQLN2 Gene

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

  • UBQL2_HUMAN
genes like me logo Genes that share paralogs with UBQLN2: view

Variants for UBQLN2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for UBQLN2 Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
586918 Benign: not provided 56,564,452(+) C/T SYNONYMOUS_VARIANT
640437 Uncertain Significance: Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia 56,565,447(+) C/T MISSENSE_VARIANT
rs1057515973 Uncertain Significance: Amyotrophic Lateral Sclerosis, Dominant 56,563,597(+) A/C FIVE_PRIME_UTR_VARIANT
rs1057515974 Uncertain Significance: Amyotrophic Lateral Sclerosis, Dominant 56,563,603(+) G/C FIVE_PRIME_UTR_VARIANT
rs1057515975 Uncertain Significance: Amyotrophic Lateral Sclerosis, Dominant 56,563,818(+) G/GCT FIVE_PRIME_UTR_VARIANT

Additional dbSNP identifiers (rs#s) for UBQLN2 Gene

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

Variant ID Type Subtype PubMed ID
nsv510538 OTHER sequence alteration 20534489
nsv6916 CNV deletion 18451855

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)

Additional Variant Information for UBQLN2 Gene

Human Gene Mutation Database (HGMD)
UBQLN2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
UBQLN2

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

Disorders for UBQLN2 Gene

MalaCards: The human disease database

(27) MalaCards diseases for UBQLN2 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- 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.

Additional Disease Information for 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. The ubiquitin-like protein PLIC-2 is a negative regulator of G protein-coupled receptor endocytosis. (PMID: 18199683) N'Diaye EN … Brown EJ (Molecular biology of the cell 2008) 3 4 23 54
  2. Structural studies of the interaction between ubiquitin family proteins and proteasome subunit S5a. (PMID: 11827521) Walters KJ … Howley PM (Biochemistry 2002) 3 4 23 54
  3. The hPLIC proteins may provide a link between the ubiquitination machinery and the proteasome. (PMID: 10983987) Kleijnen MF … Howley PM (Molecular cell 2000) 3 4 23 54
  4. A family of ubiquitin-like proteins binds the ATPase domain of Hsp70-like Stch. (PMID: 10675567) Kaye FJ … Rose MD (FEBS letters 2000) 2 3 4 54
  5. ALS-linked mutations in ubiquilin-2 or hnRNPA1 reduce interaction between ubiquilin-2 and hnRNPA1. (PMID: 25616961) Gilpin KM … Monteiro MJ (Human molecular genetics 2015) 3 4 54

Products for UBQLN2 Gene

Sources for UBQLN2 Gene