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UPK2 Gene

protein-coding   GIFtS: 51
GCID: GC11P118795

Uroplakin 2

  See UPK2-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
Uroplakin 21 2
Uroplakin II1 2 3
UP22 3 5
UPII2 3 5
uroplakin-21 2

External Ids:    HGNC: 125791   Entrez Gene: 73792   Ensembl: ENSG000001103757   OMIM: 6115585   UniProtKB: O005263   

Export aliases for UPK2 gene to outside databases

Previous GC identifers: GC11P134018 GC11P120338 GC11P118829 GC11P118364 GC11P118332 GC11P114766


(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 UPK2 Gene:
This gene encodes one of the proteins of the highly conserved urothelium-specific integral membrane proteins of
the asymmetric unit membrane which forms urothelium apical plaques in mammals. The asymmetric unit membrane is
believed to strengthen the urothelium by preventing cell rupture during bladder distention. The encoded protein
is expressed in the peripheral blood of bladder cancer patients with transitional cell carcinomas.(provided by
RefSeq, Sep 2009)

GeneCards Summary for UPK2 Gene:
UPK2 (uroplakin 2) is a protein-coding gene. Diseases associated with UPK2 include ovarian brenner tumor, and bladder squamous cell carcinoma.

UniProtKB/Swiss-Prot: UPK2_HUMAN, O00526
Function: Component of the asymmetric unit membrane (AUM); a highly specialized biomembrane elaborated by
terminally differentiated urothelial cells. May play an important role in regulating the assembly of the AUM (By
similarity)

Gene Wiki entry for UPK2 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_000011.9  NC_018922.2  NT_033899.9  
Regulatory elements:
   Regulatory transcription factor binding sites in the UPK2 gene promoter:
         Spz1   AML1a   MAZR   p53   CUTL1   RelA   NF-kappaB   S8   Pax-4a   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidUPK2 promoter sequence
   Search Chromatin IP Primers for UPK2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat UPK2


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

Entrez Gene cytogenetic band: 11q23   Ensembl cytogenetic band:  11q23.3   HGNC cytogenetic band: 11q23

UPK2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
UPK2 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P118795:  view genomic region     (about GC identifiers)

Start:
118,795,873 bp from pter      End:
118,829,269 bp from pter
Size:
33,397 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., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: UPK2_HUMAN, O00526 (See protein sequence)
Recommended Name: Uroplakin-2 precursor  
Size: 184 amino acids; 19438 Da
Subunit: Interacts with uroplakin-1a (UPK1A) (By similarity)
Secondary accessions: B0YJ92 O00457 Q53YV0

Explore the universe of human proteins at neXtProt for UPK2: NX_O00526

Explore proteomics data for UPK2 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn28, Asn57, Asn66
  • Modification sites at PhosphoSitePlus

  • See UPK2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_006751.1  
    ENSEMBL proteins: 
     ENSP00000264031  

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    antibodies-online proteins for UPK2 (5 products) 

     
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    antibodies-online kits for UPK2 (8 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR009952 Uroplakin_II

    Graphical View of Domain Structure for InterPro Entry O00526

    ProtoNet protein and cluster: O00526

    1 Blocks protein domain: IPB009952 Uroplakin II

    UniProtKB/Swiss-Prot: UPK2_HUMAN, O00526
    Similarity: Belongs to the uroplakin-2 family


    Find genes that share domains with UPK2           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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: UPK2_HUMAN, O00526
    Function: Component of the asymmetric unit membrane (AUM); a highly specialized biomembrane elaborated by
    terminally differentiated urothelial cells. May play an important role in regulating the assembly of the AUM (By
    similarity)

         Genatlas biochemistry entry for UPK2:
    uroplakin 2,urothelium specific transmembrane protein forming 12nm protein particles in association with other
    UPKs,at the asymetric unit membrane of the bladder epithelium,strenghthening and stabilizing the urothelial
    epithelial surface trough its interactions with the underlying cytoskeleton,continuously expressed by the
    majority of transitional cell carcinoma of the bladder (TCC), in a region of partial synteny to chromosome 11

    Phenotypes:
         4 MGI mutant phenotypes (inferred from 1 allele(MGI details for Upk2):
     growth/size/body  homeostasis/metabolism  mortality/aging  renal/urinary system 

    Find genes that share phenotypes with UPK2           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Upk2tm1Tsun for UPK2

       genOway: Develop your customized and physiologically relevant rodent model for UPK2

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    (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
    UPK2_HUMAN, O00526: Cell membrane; Single-pass type I membrane protein (Potential). Note=Heterodimer formation
    with UPK1A is a prerequisite to exit out of the endoplasmic reticulum (ER) (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    endoplasmic reticulum2

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005887integral component of plasma membrane TAS8175808
    GO:0016324apical plasma membrane IEA--
    GO:0030176integral component of endoplasmic reticulum membrane IEA--
    GO:0070062extracellular vesicular exosome IDA19056867

    Find genes that share ontologies with UPK2           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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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for UPK2
    Interactions:

        Search GeneGlobe Interaction Network for UPK2

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    2 Interacting proteins for UPK2 (O005263 ENSP000002640314) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UPK1AO003223, ENSP000002222754I2D: score=2 STRING: ENSP00000222275
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007275multicellular organismal development TAS9515818
    GO:0030855epithelial cell differentiation IDA10514386
    GO:0061024membrane organization IEA--

    Find genes that share ontologies with UPK2           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 UPK2

    1 Novoseek inferred chemical compound relationship for UPK2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    troglitazone 47.2 3 15054105 (1), 16105033 (1)



    Find genes that share compounds with UPK2           About GenesLikeMe



    (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 UPK2 gene: 
    NM_006760.3  

    Unigene Cluster for UPK2:

    Uroplakin 2
    Hs.379613  [show with all ESTs]
    Unigene Representative Sequence: AK128181
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000534788 ENST00000264031(uc001puh.3)
    miRNA
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    Additional mRNA sequence: 

    AB009454.1 AF000562.1 AK128181.1 AY455312.1 BC113900.1 Y13645.1 

    2 DOTS entries:

    DT.92416886  DT.101972424 

    9 AceView cDNA sequences:

    AB009454 AY455312 CD556028 NM_006760 BX283541 Y13645 BG489265 BQ640714 
    AF000562 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for UPK2    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5
    SP1:                          -               
    SP2:                                          


    ECgene alternative splicing isoforms for UPK2

    (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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    UPK2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTCCTGCTGG
    UPK2 Expression
    About this image


    UPK2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Ovary (Reproductive System)
             Oviduct
     
     Brain (Nervous System)
             Cerebral Cortex
    UPK2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    UPK2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.379613

    UniProtKB/Swiss-Prot: UPK2_HUMAN, O00526
    Tissue specificity: Expressed in ureter

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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)
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    This gene was present in the common ancestor of human and mouse.

    Orthologs for UPK2 gene from Selected species (see all 6)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Upk21 , 5 uroplakin 21, 5 84.24(n)1
    86.96(a)1
      9 (24.84 cM)5
    222691  NM_009476.21  NP_033502.21 
     444527165 


    ENSEMBL Gene Tree for UPK2 (if available)
    TreeFam Gene Tree for UPK2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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      --

    (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 UPK2 (see all 131)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs20971311,2
    C,F,A--118825069(+) AAAATA/GCAAAA 1 -- us2k14Minor allele frequency- G:0.43NS NA 42
    rs1885016111,2
    --118825181(+) GATCAC/TGCCAC 1 -- us2k10--------
    rs1484111751,2
    --118825373(+) CTGCTC/TAGGCC 1 -- us2k10--------
    rs1916497521,2
    --118825461(+) ACAACC/TTCCCT 1 -- us2k10--------
    rs1839450881,2
    --118825538(+) AGATAC/TACAGC 1 -- us2k10--------
    rs1440293841,2
    --118825594(+) CTCCCA/GACAAA 1 -- us2k10--------
    rs1459821791,2
    --118825614(+) TTTCCA/GCAAGT 1 -- us2k10--------
    rs17901911,2
    C,F,A,H--118825636(+) TCTGAA/GTCTCA 1 -- us2k129Minor allele frequency- G:0.41NS EA NA WA CSA 2810
    rs1400677091,2
    C--118825653(+) ACTTT-/TCTCTCT 1 -- us2k10--------
    rs803465111,2
    C,F--118825685(+) TGAGAC/GAGAGT 1 -- us2k11Minor allele frequency- G:0.03EA 120

    HapMap Linkage Disequilibrium report for UPK2 (118795873 - 118829269 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for UPK2:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv819166CNV Loss19587683

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing UPK2
    DNA2.0 Custom Variant and Variant Library Synthesis for UPK2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 611558    OMIM disorders: --

    4 diseases for UPK2:    
    About MalaCards
    ovarian brenner tumor    bladder squamous cell carcinoma    bladder carcinoma in situ    bladder carcinoma

    5 diseases from the University of Copenhagen DISEASES database for UPK2:
    Urinary bladder cancer     Transitional cell carcinoma     Bladder carcinoma in situ     Cystitis
    Vesicoureteral reflux

    Find genes that share disorders with UPK2           About GenesLikeMe

    8 Novoseek inferred disease relationships for UPK2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    bladder cancer 74.3 26 12624658 (4), 10458411 (3), 15059347 (3), 18440837 (2) (see all 9)
    carcinoma transitional cell 70.9 6 9846985 (1), 10458411 (1), 19513619 (1), 12474225 (1) (see all 5)
    metastasis 39.1 3 10458411 (1), 12474225 (1), 16280744 (1)
    carcinoma 37.4 1 16619260 (1)
    cancer 23.9 10 15059347 (3), 12792753 (2), 15017198 (1), 10955799 (1)
    primary tumor 23 2 11410485 (1)
    tumors 21.7 6 14963492 (1), 11297251 (1), 18696039 (1)
    cancer lung 0 1 15059347 (1)


    Export disorders for UPK2 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 UPK2 gene, integrated from 10 sources (see all 46):
    (articles sorted by number of sources associating them with UPK2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Uroplakin gene expression by normal and neoplastic human urothelium. (PubMed id 9846985)1, 2, 3, 9 Lobban E.D.... Southgate J. (Am. J. Pathol. 1998)
    2. Genetic detection for hematogenous micrometastasis in patients with various types of malignant tumors using Uroplakin II derived primers in polymerase chain reaction. (PubMed id 12792753)1, 2, 9 Hirata H....Kanamaru T. (Oncol. Rep. 2003)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    4. Uroplakin II gene is expressed in transitional cell carcinoma but not in bilharzial bladder squamous cell carcinoma: alternative pathways of bladder epithelial differentiation and tumor formation. (PubMed id 9515818)1, 3 Wu R.L....Sun T.T. (Cancer Res. 1998)
    5. Mutation analyses of Uroplakin II in children with renal tract malformations. (PubMed id 17012268)1, 9 Jenkins D....Woolf A.S. (Nephrol. Dial. Transplant. 2006)
    6. Prostate stem cell antigen enhancer and uroplakin II promoter based bladder cancer targeted tissue-specific vector. (PubMed id 18440837)1, 9 Wang D....Rodriguez R. (Urol. Oncol. 2010)
    7. Detection of circulating uroplakin-positive cells in patients with transitional cell carcinoma of the bladder. (PubMed id 10458411)1, 9 Li S.M....Wu X.R. (J. Urol. 1999)
    8. Expression of transitional cell-specific genes, uroplakin Ia and II, in bladder cancer: detection of circulating cancer cells in the peripheral blood of metastatic patients. (PubMed id 10404304)1, 9 Yuasa T....Okada Y. (Int. J. Urol. 1999)
    9. Selective interactions of UPIa and UPIb, two members of the transmembrane 4 superfamily, with distinct single transmembrane-domained proteins in differentiated urothelial cells. (PubMed id 8530366)1, 9 Wu X.R....Sun T.T. (J. Biol. Chem. 1995)
    10. Cloning of human uroplakin II gene from Chinese transitional cell carcinoma of bladder and construction of its eukaryotic expression vector. (PubMed id 16116969)1, 9 Chen F....Lu G. (J. Huazhong Univ. Sci. Technol. Med. Sci. 2005)

    (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)
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    Entrez Gene: 7379 HGNC: 12579 AceView: UPK2 Ensembl:ENSG00000110375 euGenes: HUgn7379
    ECgene: UPK2 H-InvDB: UPK2

    (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 UPK2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for UPK2 gene:
    Search GeneIP for patents involving UPK2

    GeneCards and IP:
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