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UBQLN2 Gene

protein-coding   GIFtS: 63
GCID: GC0XP056606

Ubiquilin 2

  See UBQLN2-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Ubiquilin 21 2     CHAP12 5
PLIC22 3 5     DSK22
NEDD4 Binding Protein 41 2     ubiquilin-22
Protein Linking IAP With Cytoskeleton 22 3     Chap13
Ubiquitin-Like Product Chap1/Dsk22 3     PLIC-23
N4BP42 3     DSK2 Homolog3
ALS152 5     hPLIC-23

External Ids:    HGNC: 125091   Entrez Gene: 299782   Ensembl: ENSG000001880217   OMIM: 3002645   UniProtKB: Q9UHD93   

Export aliases for UBQLN2 gene to outside databases

Previous GC identifers: GC0XP053424 GC0XP054556 GC0XP055195 GC0XP055556 GC0XP056473 GC0XP053642


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 ubqln2-related amyotrophic lateral sclerosis/frontotemporal dementia, and amyotrophic lateral sclerosis 15, with or without frontotemporal dementia. An important paralog of this gene is UBQLN3.

UniProtKB/Swiss-Prot: UBQL2_HUMAN, Q9UHD9
Function: 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


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000023.10  NC_018934.2  NT_011630.15  
Regulatory elements:
   Regulatory transcription factor binding sites in the UBQLN2 gene promoter:
         HOXA9B   HOXA9   MyoD   POU3F2 (N-Oct-5a)   POU3F2 (N-Oct-5b)   POU3F2   Meis-1b   AREB6   POU2F1   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidUBQLN2 promoter sequence
   Search Chromatin IP Primers for UBQLN2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat UBQLN2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xp11.21   Ensembl cytogenetic band:  Xp11.21   HGNC cytogenetic band: Xp11.21

UBQLN2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
UBQLN2 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP056606:  view genomic region     (about GC identifiers)

Start:
56,590,026 bp from pter      End:
56,593,443 bp from pter
Size:
3,418 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: UBQL2_HUMAN, Q9UHD9 (See protein sequence)
Recommended Name: Ubiquilin-2  
Size: 624 amino acids; 65696 Da
Subunit: Binds UBE3A and BTRC. Interacts with the 19S proteasome subunit
1 PDB 3D structure from and Proteopedia for UBQLN2:
1J8C (3D)    
Secondary accessions: O94798 Q5D027 Q9H3W6 Q9HAZ4

Explore the universe of human proteins at neXtProt for UBQLN2: NX_Q9UHD9

Explore proteomics data for UBQLN2 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys41, Lys43, Lys66, Lys79
  • Modification sites at PhosphoSitePlus

  • See UBQLN2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_038472.2  
    ENSEMBL proteins: 
     ENSP00000345195  

    UBQLN2 Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    UBQLN: Ubiquilin family

    Selected InterPro protein domains (see all 8):
     IPR015496 Ubiquilin
     IPR000626 Ubiquitin_dom
     IPR009060 UBA-like
     IPR006636 STI1_HS-bd
     IPR000449 UBA/Ts_N

    Graphical View of Domain Structure for InterPro Entry Q9UHD9

    ProtoNet protein and cluster: Q9UHD9

    2 Blocks protein domains:
    IPB000449 Ubiquitin-associated domain
    IPB000626 Ubiquitin domain


    UniProtKB/Swiss-Prot: UBQL2_HUMAN, Q9UHD9
    Similarity: Contains 1 UBA domain
    Similarity: Contains 1 ubiquitin-like domain


    Find genes that share domains with UBQLN2           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: UBQL2_HUMAN, Q9UHD9
    Function: Increases the half-life of proteins destined to be degraded by the proteasome; may modulate
    proteasome-mediated protein degradation
    Induction: Highly expressed in mitotic cells from metaphase to telophase. Expression in non-mitotic cells is very
    low

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003684damaged DNA binding ----
    GO:0005488binding ----
    GO:0005515protein binding IPI17098253
         
    Find genes that share ontologies with UBQLN2           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for UBQLN2:
     Increased cell death in DLD-1   Synthetic lethal with Ras 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for UBQLN2
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    miRNA
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    miRTarBase miRNAs that target UBQLN2:
    hsa-mir-484 (MIRT041770), hsa-mir-193b-3p (MIRT041359), hsa-mir-155-5p (MIRT020846), hsa-mir-34a-5p (MIRT025411)

    Block miRNA regulation of human, mouse, rat UBQLN2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate UBQLN2 (see all 48):
    hsa-miR-548j hsa-miR-323-3p hsa-miR-607 hsa-miR-218 hsa-miR-4275 hsa-miR-3658 hsa-miR-3613-3p hsa-miR-548a-5p
    SwitchGear 3'UTR luciferase reporter plasmidUBQLN2 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Predesigned siRNA for gene silencing in human, mouse, rat UBQLN2

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    GenScript: all cDNA clones in your preferred vector: UBQLN2 (NM_013444)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for UBQLN2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat UBQLN2
    Addgene plasmids for UBQLN2 

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UBQLN2


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    UBQL2_HUMAN, Q9UHD9: Cytoplasm. Nucleus. Note=Where it colocalizes with the proteasome. Associated with fibers in
    mitotic cells
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol4
    plasma membrane4

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0005737cytoplasm IDA--
    GO:0005886plasma membrane IDA--

    Find genes that share ontologies with UBQLN2           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for UBQLN2 About    
    See pathways by source

    SuperPathContained pathways About
    1Protein processing in endoplasmic reticulum
    Protein processing in endoplasmic reticulum


    Find genes that share SuperPaths with UBQLN2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Kegg Pathway  (Kegg details for UBQLN2):
        Protein processing in endoplasmic reticulum

        Pathway & Disease-focused RT2 Profiler PCR Array including UBQLN2: 
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for UBQLN2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for UBQLN2 (Q9UHD91, 2, 3 ENSP000003451954) via UniProtKB, MINT, STRING, and/or I2D (see all 166)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ADRM1Q161861, 2, 3, ENSP000002530034EBI-947187,EBI-954387 MINT-7308339 MINT-7308309 MINT-7308324 I2D: score=2 STRING: ENSP00000253003
    PRPF40AO754002, 3MINT-61847 I2D: score=3 
    RNF11Q9Y3C52, 3MINT-60853 I2D: score=3 
    PSMD4P550361, 2, 3, ENSP000003578794EBI-947187,EBI-359318 MINT-7311366 MINT-7311387 MINT-7311418 I2D: score=5 STRING: ENSP00000357879
    UBQLN4Q9NRR52, 3, ENSP000003572924MINT-2872426 I2D: score=3 STRING: ENSP00000357292
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006289nucleotide-excision repair ----
    GO:0008219cell death IEA--
    GO:0043161proteasome-mediated ubiquitin-dependent protein catabolic process ----

    Find genes that share ontologies with UBQLN2           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for UBQLN2 (UBQL2)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for UBQLN2 gene: 
    NM_013444.3  

    Unigene Cluster for UBQLN2:

    Ubiquilin 2
    Hs.179309  [show with all ESTs]
    Unigene Representative Sequence: NM_013444
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000338222(uc004dus.3)
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat UBQLN2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate UBQLN2 (see all 48):
    hsa-miR-548j hsa-miR-323-3p hsa-miR-607 hsa-miR-218 hsa-miR-4275 hsa-miR-3658 hsa-miR-3613-3p hsa-miR-548a-5p
    SwitchGear 3'UTR luciferase reporter plasmidUBQLN2 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat UBQLN2
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    GenScript: all cDNA clones in your preferred vector: UBQLN2 (NM_013444)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for UBQLN2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat UBQLN2
    Addgene plasmids for UBQLN2 
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat UBQLN2
      QuantiTect SYBR Green Assays in human, mouse, rat UBQLN2
      QuantiFast Probe-based Assays in human, mouse, rat UBQLN2

    Additional mRNA sequence: 

    AB015344.1 AF189009.1 AF293385.1 AK001029.1 AK297252.1 AK302885.1 AL442081.1 BC069237.1 

    3 DOTS entries:

    DT.446802  DT.75178455  DT.100743118 

    Selected AceView cDNA sequences (see all 62):

    BQ638428 BM452656 BM928110 BG779081 AI738604 NM_013444 R49916 BQ921071 
    AF293385 BM698115 BI836610 AL442081 AA235610 CA390135 Z43703 AI140828 
    CA313169 AA351423 AI677838 BI772210 BE170732 BQ640426 AW087180 AF189009 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    UBQLN2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGATGTTTGC
    UBQLN2 Expression
    About this image


    UBQLN2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Neural Tube (Nervous System)
             Telencephalon
    UBQLN2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    UBQLN2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.179309
        Pathway & Disease-focused RT2 Profiler PCR Array including UBQLN2: 
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UBQLN2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for UBQLN2 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ubqln21 , 5 ubiquilin 21, 5 86.1(n)1
    88.89(a)1
      X (68.46 cM)5
    546091  NM_018798.21  NP_061268.21 
     1534982275 
    chicken
    (Gallus gallus)
    Aves --
    Uncharacterized protein
    75(a)
    1 → many
    Z(39839862-39870812)
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    75(a)
    1 → many
    2(42676593-42701741)
    fruit fly
    (Drosophila melanogaster)
    Insecta CG142243   -- 48(a)   18E1   --
    worm
    (Caenorhabditis elegans)
    Secernentea ubql-11 ubql-1 49.02(n)
    41.99(a)
      172434  NM_170894.3  NP_740883.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes DSK2(YMR276W)4 Nuclear-enriched ubiquitin-like polyubiquitin-binding more   --   13(818827-819948) 855319  NP_014003.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons DSK21 DSK2 48.49(n)
    44.19(a)
      816225  NM_127274.3  NP_179311.1 
    rice
    (Oryza sativa)
    Liliopsida Os10g05422001 Os10g0542200 48.76(n)
    43.46(a)
      4349264  NM_001071728.1  NP_001065193.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for UBQLN2 gene
    UBQLN32  UBQLN42  UBQLN12  UBQLNL2  
    3 SIMAP similar genes for UBQLN2 using alignment to 1 protein entry:     UBQL2_HUMAN:
    UBQLN1    UBQLN4    UBQLN3

    Find genes that share paralogs with UBQLN2           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for UBQLN2 (see all 95)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0665664
    Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia (ALS15)4--see VAR_0665662 P S mis40--------
    VAR_0688974
    Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia (ALS15)4--see VAR_0688972 T I mis40--------
    VAR_0688964
    Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia (ALS15)4--see VAR_0688962 Q R mis40--------
    VAR_0665644
    Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia (ALS15)4--see VAR_0665642 P T mis40--------
    VAR_0665634
    Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia (ALS15)4--see VAR_0665632 P S mis40--------
    VAR_0688954
    Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia (ALS15)4--see VAR_0688952 A T mis40--------
    VAR_0665654
    Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia (ALS15)4--see VAR_0665652 P S mis40--------
    VAR_0665624
    Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia (ALS15)4--see VAR_0665622 P H mis40--------
    rs59607381,2
    C,F,A,H--56605539(+) CTTTAA/CTCACT 1 -- us2k118Minor allele frequency- C:0.32NS EA WA NA CSA 1974
    rs1907733741,2
    --56605577(+) CCTCAC/TGGGTG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for UBQLN2 (56590026 - 56593443 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for UBQLN2:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv6916CNV Loss18451855
    nsv510538CNV Loss20534489

    Human Gene Mutation Database (HGMD): UBQLN2
    Locus Specific Mutation Databases (LSDB): UBQLN2

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 300264   
    OMIM disorders: 300857  
    UniProtKB/Swiss-Prot: UBQL2_HUMAN, Q9UHD9
  • 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. Note=The disease is
    caused by mutations affecting the gene represented in this entry

  • 6 diseases for UBQLN2:    
    About MalaCards
    ubqln2-related amyotrophic lateral sclerosis/frontotemporal dementia    amyotrophic lateral sclerosis 15, with or without frontotemporal dementia    brown-vialetto-van laere syndrome    frontotemporal dementia
    amyotrophic lateral sclerosis    dementia

    3 diseases from the University of Copenhagen DISEASES database for UBQLN2:
    Amyotrophic lateral sclerosis     Frontotemporal dementia     Brown-Vialetto-Van Laere syndrome

    Find genes that share disorders with UBQLN2           About GenesLikeMe


    Export disorders for UBQLN2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for UBQLN2 gene, integrated from 10 sources (see all 66):
    (articles sorted by number of sources associating them with UBQLN2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A family of ubiquitin-like proteins binds the ATPase domain of Hsp70- like Stch. (PubMed id 10675567)1, 2, 3 Kaye F.J.... Rose M.D. (FEBS Lett. 2000)
    2. Structural studies of the interaction between ubiquitin family proteins and proteasome subunit S5a. (PubMed id 11827521)1, 2, 9 Walters K.J.... Howley P.M. (Biochemistry 2002)
    3. The hPLIC proteins may provide a link between the ubiquitination machinery and the proteasome. (PubMed id 10983987)1, 2, 9 Kleijnen M.F.... Howley P.M. (Mol. Cell 2000)
    4. Screening in ALS and FTD patients reveals 3 novel UBQLN2 mutations outside the PXX domain and a pure FTD phenotype. (PubMed id 22892309)1, 2 Synofzik M.... Biskup S. (Neurobiol. Aging 2012)
    5. UBQLN2 mutations are rare in French and French-Canadian amyotrophic lateral sclerosis. (PubMed id 22560112)1, 2 Daoud H.... Rouleau G.A. (Neurobiol. Aging 2012)
    6. UBQLN2/ubiquilin 2 mutation and pathology in familial amyotrophic lateral sclerosis. (PubMed id 22717235)1, 2 Williams K.L.... Blair I.P. (Neurobiol. Aging 2012)
    7. Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia. (PubMed id 21857683)1, 2 Deng H.X....Siddique T. (Nature 2011)
    8. The DNA sequence of the human X chromosome. (PubMed id 15772651)1, 2 Ross M.T.... Bentley D.R. (Nature 2005)
    9. Selection system for genes encoding nuclear-targeted proteins. (PubMed id 9853615)1, 2 Ueki N.... Muramatsu M.-A. (Nat. Biotechnol. 1998)
    10. The ubiquitin-like protein PLIC-2 is a negative regulator of G protein-coupled receptor endocytosis. (PubMed id 18199683)1, 9 N'Diaye E.N....Brown E.J. (Mol. Biol. Cell 2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 29978 HGNC: 12509 AceView: UBQLN2 Ensembl:ENSG00000188021 euGenes: HUgn29978
    ECgene: UBQLN2 Kegg: 29978 H-InvDB: UBQLN2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for UBQLN2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for UBQLN2 gene:
    Search GeneIP for patents involving UBQLN2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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