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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

UBQLN2 Gene

protein-coding   GIFtS: 59
GCID: GC0XP056606

ubiquilin 2

 Explore 7 diseases affiliated with
UBQLN2 via our new
 Human Malady Compendium 
Biological research products
for UBQLN2
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Ubiquilin 21 2     Dsk21
PLIC21 2 3 5     LIC-21
N4BP41 2 3     RIHFB21571
Chap11 3     ALS152
PLIC-21 3     DSK22
Protein Linking IAP With Cytoskeleton 22 3     Nedd4 Binding Protein 42
Ubiquitin-Like Product Chap1/Dsk22 3     Ubiquilin-21
CHAP12 5     DSK2 Homolog3
CHAP1/DSK21     HPLIC-21

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for UBQLN2:
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)

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


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NC_018934.1  NT_011630.14  
Regulatory elements:
   SABiosciences 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
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Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9UHD9

  • UBQLN2 Protein expression data from MOPED and PaxDb:    About this image 
    UBQLN2 Protein Expression
    REFSEQ proteins: NP_038472.2  
    ENSEMBL proteins: 
     ENSP00000345195  

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    Uscn Proteins for UBQLN2

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

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

    UBQLN2 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    UBQLN2 for domains           About GeneDecksing

    5/8 InterPro domains/families (see all 8):
     IPR006636 STI1_HS-bd
     IPR000449 UBA/transl_elong_EF1B_N
     IPR015940 UBA/transl_elong_EF1B_N_euk
     IPR015496 Ubiquilin
     IPR000626 Ubiquitin

    Graphical View of Domain Structure for InterPro Entry Q9UHD9

    ProtoNet protein and cluster: Q9UHD9

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


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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    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): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI17098253
         
    UBQLN2 for ontologies           About GeneDecksing


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

    Animal Models:
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for UBQLN2 

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


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Protein processing in endoplasmic reticulum
    Protein processing in endoplasmic reticulum1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways



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


    UBQLN2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for UBQLN2

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

    5/97 Interacting proteins for UBQLN2 (Q9UHD91, 2, 3 ENSP000003451954) via UniProtKB, MINT, STRING, and/or I2D (see all 97)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PSMD4P550362, 3, ENSP000003578794MINT-7311366 MINT-7311387 MINT-7311418 I2D: score=5 STRING: ENSP00000357879
    ADRM1Q161862, 3, ENSP000002530034MINT-7308339 MINT-7308309 MINT-7308324 I2D: score=2 STRING: ENSP00000253003
    PRPF40AO754002, 3MINT-61847 I2D: score=3 
    RNF11Q9Y3C52, 3MINT-60853 I2D: score=3 
    UBQLN4Q9NRR52, 3, ENSP000003572924MINT-2872426 I2D: score=3 STRING: ENSP00000357292
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008219cell death IEA--

    UBQLN2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for UBQLN2
    Search CenterWatch for drugs/clinical trials and news about UBQLN2 / UBQL2 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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)

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    8/48 QIAGEN miScript miRNA 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
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    Additional cDNA 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 

    24/62 AceView cDNA sequences (see all 62):

    BG779081 BQ638428 AI140828 BM698115 AF293385 AI738604 BM928110 CA390135 
    NM_013444 BQ921071 AL442081 AA235610 BM452656 BI836610 R49916 Z43703 
    AI677838 AI970587 AF189009 BE383133 BI833091 AI144481 BI223443 CA313169 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    UBQLN2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TGATGTTTGC
    UBQLN2 Expression
    About this image
    See UBQLN2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for UBQLN2

    SOURCE GeneReport for Unigene cluster: Hs.179309
        SABiosciences Expression via Pathway-Focused PCR Array including UBQLN2: 

              Molecular Toxicology PathwayFinder 384HT in human mouse rat

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    In Situ
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    (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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for UBQLN2 gene from 4/22 species (see all 22)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    fruit fly
    (Drosophila melanogaster)
    Insecta CG142243   -- 48(a)   18E1   --
    worm
    (Caenorhabditis elegans)
    Secernentea F15C11.26
    F15C11.2
    37(a)
    1 → many
    I(7021981-7029075)
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT2G171906
    DSK26
    ubiquitin-like protein
    33(a)
    31(a)
    many ↔ many
    many ↔ many
    2(7477845-7481606)
    2(7481881-7485240)
    rice
    (Oryza sativa)
    Liliopsida --
    --
    ubiquitin family protein, putative, expressed
    30(a)
    25(a)
    many ↔ many
    many ↔ many
    3(1790568-1795419)
    10(21097813-21103066)


    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)
    About This Section
    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

    UBQLN2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/65 NCBI SNPs in UBQLN2 are shown (see all 65    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs59607381,2
    C,F,A,H--56588095(+) CTTTAA/CTCACT 1 -- us2k118Minor allele frequency- C:0.32NS EA WA NA CSA 1974
    rs1907733741,2
    --56588133(+) CCTCAC/TGGGTG 1 -- us2k10--------
    rs1815850961,2
    --56588391(+) GTCATA/CTTTTT 1 -- us2k10--------
    rs1867929161,2
    --56588403(+) CCTCTC/GTATTT 1 -- us2k10--------
    rs1387607431,2
    --56588479(+) ATATAA/GCATAC 1 -- us2k10--------
    rs1911839211,2
    --56588485(+) CATACC/TTGTAT 1 -- us2k10--------
    rs1834621151,2
    --56588696(+) CTCTTC/TCTCAG 1 -- us2k10--------
    rs1417012871,2
    --56588784(+) TGTGCC/TTGTCA 1 -- us2k10--------
    rs1879547381,2
    --56588958(+) TTTTAC/TACATA 1 -- us2k10--------
    rs1899922611,2
    --56588987(+) AACTGC/TTCAAA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for UBQLN2 (56590026 - 56593443 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for UBQLN2: --
    Human Gene Mutation Database (HGMD): UBQLN2

    Locus Specific Mutation Databases (LSDB): UBQLN2

    SABiosciences Cancer Mutation 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.)
    About This Section

    UBQLN2 for disorders           About GeneDecksing

    OMIM gene information: 300264    OMIM disorders: --

    UniProtKB/Swiss-Prot: UBQL2_HUMAN, Q9UHD9
  • Defects in UBQLN2 are the cause of amyotrophic lateral sclerosis type 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

    7 diseases for UBQLN2:    About MalaCards
    amyotrophic lateral sclerosis    frontotemporal dementia    lateral sclerosis    macular degeneration
    dementia    ataxia    malaria

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

    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)
    About This Section

    PubMed articles for UBQLN2 gene, integrated from 9 sources (see all 52):
    (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. (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. (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. (2000)
    4. UBQLN2/ubiquilin 2 mutation and pathology in familial amyotrophic lateral sclerosis. (PubMed id 22717235)1, 2 Williams K.L.... Blair I.P. (2012)
    5. UBQLN2 mutations are rare in French and French-Canadian amyotrophic lateral sclerosis. (PubMed id 22560112)1, 2 Daoud H.... Rouleau G.A. (2012)
    6. 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. (2011)
    7. The DNA sequence of the human X chromosome. (PubMed id 15772651)1, 2 Ross M.T.... Bentley D.R. (2005)
    8. Selection system for genes encoding nuclear-targeted proteins. (PubMed id 9853615)1, 2 Ueki N.... Muramatsu M.-A. (1998)
    9. 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. (2008)
    10. Identification of ubiquitin-like protein-binding subunits of the 26S proteasome. (PubMed id 12200120)1, 9 Saeki Y....Yokosawa H. (2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 29978 HGNC: 12509 AceView: UBQLN2 Ensembl:ENSG00000188021 euGenes: HUgn29978
    ECgene: UBQLN2 Kegg: 29978 H-InvDB: UBQLN2

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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
    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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