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

DTX2P1-UPK3BP1-PMS2P11 Gene

pseudogene   GIFtS: 25
GCID: GC07P076614

DTX2P1-UPK3BP1-PMS2P11 Readthrough Transcribed Pseudogene

(Previous name: DTX2P1-UPK3BP1-PMS2P11 readthrough (non-protein coding))
  See related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
DTX2P1-UPK3BP1-PMS2P11 Readthrough Transcribed Pseudogene1 2
DTX2P1-UPK3BP1-PMS2P11 Readthrough (Non-Protein Coding)1
PMS2L112
PMS2P112
PMSR62

External Ids:    HGNC: 423601   Entrez Gene: 4412632   Ensembl: ENSG000002654797   
ORGUL members:         
NONCODE14:n385224 n346223 n387638 n385225      

Export aliases for DTX2P1-UPK3BP1-PMS2P11 gene to outside databases

Previous GC identifers: GC07P076611 GC07P076612


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

GeneCards Summary for DTX2P1-UPK3BP1-PMS2P11 Gene: 
DTX2P1-UPK3BP1-PMS2P11 (DTX2P1-UPK3BP1-PMS2P11 readthrough transcribed pseudogene) is a pseudogene, and is affiliated with the lncRNA class. Diseases associated with DTX2P1-UPK3BP1-PMS2P11 include williams syndrome.


(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NC_018918.2  NT_007933.15  NT_079595.2  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for DTX2P1-UPK3BP1-PMS2P11
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for DTX2P1-UPK3BP1-PMS2P11

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DTX2P1-UPK3BP1-PMS2P11


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

Entrez Gene cytogenetic band: 7q11.23   Ensembl cytogenetic band:  7q11.23   HGNC cytogenetic band: 7q11.23

DTX2P1-UPK3BP1-PMS2P11 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DTX2P1-UPK3BP1-PMS2P11 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07P076614:  view genomic region     (about GC identifiers)

Start:
76,610,139 bp from pter      End:
76,673,092 bp from pter
Size:
62,954 bases      Orientation:
plus strand

1 alternative location:
Chr7+,CRA_TCAG 75,943,202-75,986,141     
ORGUL member locations:
Legend (see complete legend)

ORGUL Member Locations for DTX2P1-UPK3BP1-PMS2P11

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB: --
Post-translational modifications:
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_

  • DTX2P1-UPK3BP1-PMS2P11 Protein expression data from MOPED1, PaxDb2 and MAXQB3 : --

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

    (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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, 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, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Animal Models:
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    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for DTX2P1-UPK3BP1-PMS2P11

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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
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    Browse Tocris compounds for DTX2P1-UPK3BP1-PMS2P11

    Search CenterWatch for drugs/clinical trials and news about DTX2P1-UPK3BP1-PMS2P11

    (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,
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    About This Section

    Unigene Cluster for DTX2P1-UPK3BP1-PMS2P11:

    DTX2P1-UPK3BP1-PMS2P11 readthrough transcribed pseudogene
    Hs.675888  [show with all ESTs]
    Unigene Representative Sequence: NR_023383
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000584900(uc003ufw.4) ENST00000579700(uc011kgn.1)
    miRNA
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    Additional mRNA sequence: 

    BC015750.1 NR_023383.1 U38980.1 

    16 DOTS entries:

    DT.100810684  DT.101987018  DT.102845540  DT.40239991  DT.91713744  DT.92469716  DT.92469784  DT.121042157 
    DT.121058177  DT.121117142  DT.87077507  DT.91990208  DT.92469833  DT.95144634  DT.95192094  DT.95214454 

    1 AceView cDNA sequence:

    BV172181 

    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

    DTX2P1-UPK3BP1-PMS2P11 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTGCTTCCCC
    DTX2P1-UPK3BP1-PMS2P11 Expression
    About this image


    Genevestigator expression for DTX2P1-UPK3BP1-PMS2P11

    SOURCE GeneReport for Unigene cluster: Hs.675888
        SABiosciences Custom PCR Arrays for DTX2P1-UPK3BP1-PMS2P11
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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
      --

    ENSEMBL Gene Tree for DTX2P1-UPK3BP1-PMS2P11 (if available)
    TreeFam Gene Tree for DTX2P1-UPK3BP1-PMS2P11 (if available)

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

    (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) 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

    10/14 SNPs in DTX2P1-UPK3BP1-PMS2P11 are shown (see all 14)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs578840351,2
    C--76609132(+) GCCATC/-CCGGC 1 -- us2k11Minor allele frequency- -:0.50NA 2
    rs1995637371,2
    C--76619060(+) TTTTT-/TCTTTT 1 -- int10--------
    rs1432960341,2
    C--76619120(+) GAGTC-/T/TT  
            
    CTTTT
    1 -- int10--------
    rs2007180431,2
    C--76622006(+) CTTCC-/CTCTGC 1 -- int10--------
    rs346033231,2
    C--76626266(+) AGGTG-/GTGGGTGT 1 -- int10--------
    rs114594921,2
    C--76636175(+) TTGACG/-GGCAC 1 -- int11Minor allele frequency- -:0.00CSA 2
    rs3679442951,2
    ----76653029(+) CTCTCC/TCCTTC 1 -- nc-transcript-variant0--------
    rs715524461,2
    ----76608636(+) TTTGAG/AACGGA 1 -- us2k11Minor allele frequency- A:0.50NA 2
    rs2001890401,2
    ----76652969(+) CTGTAT/CTCAGC 1 -- nc-transcript-variant1Minor allele frequency- C:0.01EU 313
    rs747686951,2
    ----76644035(+) ATATAT/GACATA 1 -- int11Minor allele frequency- G:0.00NA 2

    HapMap Linkage Disequilibrium report for DTX2P1-UPK3BP1-PMS2P11 (76610139 - 76673092 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/48 variations for DTX2P1-UPK3BP1-PMS2P11 (see all 48):    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv820936CNV Deletion20802225
    esv2742165CNV Deletion23290073
    esv2734691CNV Deletion23290073
    esv2734690CNV Deletion23290073
    esv2741833CNV Deletion23290073
    esv2734687CNV Deletion23290073
    esv2734689CNV Deletion23290073
    dgv1218e199CNV Deletion23128226
    esv5293CNV Deletion18987735
    esv2422494CNV Duplication17116639

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    2 diseases for DTX2P1-UPK3BP1-PMS2P11:    About MalaCards
    williams syndrome    


    DTX2P1-UPK3BP1-PMS2P11 for disorders           About GeneDecksing


    Export disorders for DTX2P1-UPK3BP1-PMS2P11 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 DTX2P1-UPK3BP1-PMS2P11 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with DTX2P1-UPK3BP1-PMS2P11)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Ubiquitin ligase substrate identification through qua ntitative proteomics at both the protein and peptide levels. (PubMed id 21987572)1 Lee K.A....Doedens J.R. (2011)
    2. Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index. (PubMed id 20935630)1 Speliotes E.K....Loos R.J. (2010)
    3. Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions. (PubMed id 15342556)1 Suzuki Y.... Sugano S. (2004)
    4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
    5. PMS2-related genes flank the rearrangement breakpoints associated with Williams syndrome and other diseases on human chromosome 7. (PubMed id 9344666)1 Osborne L.R....Scherer S.W. (1997)
    6. Genomic organization of the human PMS2 gene family. (PubMed id 8586419)1 Nicolaides N.C.... Kinzler K.W. (1995)
    7. Cloning, characterization and chromosomal assignment of the human genes homologous to yeast PMS1, a member of mismatch repair genes. (PubMed id 7980603)1 Horii A.... Nakamura Y. (1994)
    8. Mutagenesis of yeast MW104-1B strain has identified the uncharacterized PMS6 DNA mismatch repair gene locus and additional alleles of existing PMS1, PMS2 and MSH2 genes. (PubMed id 7521009)9 Jeyaprakash A....Fogel S. (1994)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 441263 HGNC: 42360 AceView: LOC441263 Ensembl:ENSG00000265479 euGenes: HUgn441263
    ECgene: DTX2P1-UPK3BP1-PMS2P11 H-InvDB: DTX2P1-UPK3BP1-PMS2P11

    (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 DTX2P1-UPK3BP1-PMS2P11 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 DTX2P1-UPK3BP1-PMS2P11 gene:
    Search GeneIP for patents involving DTX2P1-UPK3BP1-PMS2P11

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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