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WBSCR27 Gene

protein-coding   GIFtS: 42
GCID: GC07M073248

Williams Beuren Syndrome Chromosome Region 27

  See 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
Williams Beuren Syndrome Chromosome Region 271 2
Williams-Beuren Syndrome Chromosomal Region 27 Protein2

External Ids:    HGNC: 190681   Entrez Gene: 1553682   Ensembl: ENSG000001651717   OMIM: 6125465   UniProtKB: Q8N6F83   

Export aliases for WBSCR27 gene to outside databases

Previous GC identifers: GC07M071890 GC07M072647 GC07M072661 GC00U917011 GC07M072693 GC07M072886 GC07M069132


(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 WBSCR27 Gene:
This gene encodes a protein belonging to ubiE/COQ5 methyltransferase family. The gene is deleted in Williams
syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.22-q11.23.
(provided by RefSeq, Jul 2008)

GeneCards Summary for WBSCR27 Gene:
WBSCR27 (Williams Beuren syndrome chromosome region 27) is a protein-coding gene. Diseases associated with WBSCR27 include williams-beuren syndrome, and multiple myeloma.




(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:
NC_000007.14  NC_018918.2  NT_007933.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the WBSCR27 gene promoter:
         HEN1   CREB   ER-alpha   USF1   AML1a   USF-1   Lmo2   Pax-2   Pax-2a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): WBSCR27 promoter sequence
   Search Chromatin IP Primers for WBSCR27

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat WBSCR27


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

WBSCR27 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
WBSCR27 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M073248:  view genomic region     (about GC identifiers)

Start:
73,248,920 bp from pter      End:
73,256,865 bp from pter
Size:
7,946 bases      Orientation:
minus strand

1 alternative location:
Chr7-,CRA_TCAG 72,581,992-72,589,927     

(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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: WBS27_HUMAN, Q8N6F8 (See protein sequence)
Recommended Name: Williams-Beuren syndrome chromosomal region 27 protein  
Size: 245 amino acids; 26522 Da

Explore the universe of human proteins at neXtProt for WBSCR27: NX_Q8N6F8

Explore proteomics data for WBSCR27 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See WBSCR27 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_689772.2  
    ENSEMBL proteins: 
     ENSP00000297873   ENSP00000398533  

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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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    ProtoNet protein and cluster: Q8N6F8

    1 Blocks protein domain: IPB013216 Methyltransferase type 11


    (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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008168methyltransferase activity ----
         
    WBSCR27 for ontologies           About GeneDecksing


    Animal Models:
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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 COMPARTMENTS: 

    CompartmentConfidence
    cytosol2
    nucleus2
    extracellular1
    peroxisome1

    (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 WBSCR27
    Interactions:

        Search GeneGlobe Interaction Network for WBSCR27

    STRING Interaction Network Preview (showing 5 interactants - click image to see 9)

    Selected Interacting proteins for WBSCR27 (ENSP000002978734) via UniProtKB, MINT, STRING, and/or I2D (see all 9)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    BYSLENSP000002303404STRING: ENSP00000230340
    DHX37ENSP000003111354STRING: ENSP00000311135
    TRMT112ENSP000003094334STRING: ENSP00000309433
    DMTF1ENSP000003321714STRING: ENSP00000332171
    MCM2ENSP000002650564STRING: ENSP00000265056
    About this table

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008152metabolic process ----

    WBSCR27 for ontologies           About GeneDecksing



    (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 WBSCR27 (WBS27)



    (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,
    Conferences by KenesGroup, 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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for WBSCR27 gene: 
    NM_152559.2  

    Unigene Cluster for WBSCR27:

    Williams Beuren syndrome chromosome region 27
    Hs.647042  [show with all ESTs]
    Unigene Representative Sequence: NM_152559
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000297873(uc003tzj.2) ENST00000458679 ENST00000493174(uc011kfd.1)

    miRNA
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    hsa-miR-185*
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    Inhib. RNA
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      QuantiTect SYBR Green Assays in human, mouse, rat WBSCR27
      QuantiFast Probe-based Assays in human, mouse, rat WBSCR27

    Additional mRNA sequence: 

    AF534110.1 AK301597.1 AY354928.1 BC030295.2 

    1 DOTS entry:

    DT.100019105 

    12 AceView cDNA sequences:

    NM_152559 AI457405 BX112517 BC030295 AY354928 BI856424 AF534110 AW804629 
    AW079211 AA535916 BU194377 BI006797 

    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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    WBSCR27 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGGCCTTAGC
    WBSCR27 Expression
    About this image

    WBSCR27 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    WBSCR27 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.647042
        Custom PCR Arrays for WBSCR27
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for WBSCR27

    (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 chordates.

    Orthologs for WBSCR27 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Wbscr271 , 5 Williams Beuren syndrome chromosome region 27 (human)1, 5 80.13(n)1
    76.85(a)1
      5 (74.89 cM)5
    795651  NM_024479.21  NP_077799.21 
     1349323685 
    chicken
    (Gallus gallus)
    Aves WBSCR271 Williams Beuren syndrome chromosome region 27 64.58(n)
    56.77(a)
      770708  XM_001234037.3  XP_001234038.2 
    lizard
    (Anolis carolinensis)
    Reptilia WBSCR276
    Williams Beuren syndrome chromosome region 27
    47(a)
    1 ↔ 1
    GL343462.1(626470-634519)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia wbscr271 Williams Beuren syndrome chromosome region 27 54.59(n)
    55.1(a)
      100135203  NM_001113905.1  NP_001107377.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wbscr271 Williams Beuren syndrome chromosome region 27 52.83(n)
    46(a)
      678636  NM_001040381.1  NP_001035471.1 


    ENSEMBL Gene Tree for WBSCR27 (if available)
    TreeFam Gene Tree for WBSCR27 (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 WBSCR27 (see all 242)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2020000251,2
    --72582134(+) GGCTGG/TGGGCT 1 -- ut310--------
    rs733699561,2
    C,F--72582164(+) TGGGTC/TGCCTT 2 Q R mis13Minor allele frequency- T:0.04WA NA 4628
    rs1462212591,2
    C,F--72582196(+) AATGCC/TGGAGA 2 P syn11Minor allele frequency- T:0.00NA 4548
    rs1392208721,2
    C,F--72582197(+) ATGCCG/AGAGAT 2 /P /L mis12Minor allele frequency- A:0.00NA EU 5871
    rs1412988161,2
    C,F--72582227(+) ATGCCG/AGATAC 2 /P /L mis12Minor allele frequency- A:0.00NA EU 5869
    rs132464601,2
    C,F--72582237(+) CCACCA/TCCAGC 2 R W mis112Minor allele frequency- T:0.34NA WA CSA EA EU 6228
    rs1479564761,2
    C,F--72582244(+) CAGCTC/TGGAGG 2 P syn11Minor allele frequency- T:0.00NA 4546
    rs115435981,2
    C--72582245(+) AGCTCG/AGAGGT 2 /P /L mis1 ese33Minor allele frequency- A:0.04NA EA 124
    rs1415743201,2
    F--72582265(+) CCAGCG/AGTCCA 2 /T syn11Minor allele frequency- A:0.00NA 4544
    rs1470323501,2
    C--72582285(+) CACAGG/TCCAGG 2 T P mis11Minor allele frequency- T:0.00NA 4524

    HapMap Linkage Disequilibrium report for WBSCR27 (73248920 - 73256865 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for WBSCR27:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv888372CNV Loss21882294
    nsv831029CNV Loss17160897

    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, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 612546    OMIM disorders: --

    UniProtKB/Swiss-Prot: WBS27_HUMAN, Q8N6F8
  • Note=WBSCR27 is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a
    hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing
    over between highly homologous low-copy repeat sequences flanking the deleted region. Haploinsufficiency of
    WBSCR27 may be the cause of certain cardiovascular and musculo-skeletal abnormalities observed in the disease

  • 3 diseases for WBSCR27:    
    About MalaCards
    williams-beuren syndrome    multiple myeloma    myeloma


    WBSCR27 for disorders           About GeneDecksing


    Export disorders for WBSCR27 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 WBSCR27 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with WBSCR27)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Williams-Beuren syndrome TRIM50 encodes an E3 ubiquitin ligase. (PubMed id 18398435)1, 2 Micale L.... Reymond A. (Eur. J. Hum. Genet. 2008)
    2. 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)
    3. A Y2H-seq approach defines the human protein methyltransferase interactome. (PubMed id 23455924)1 Weimann M.... Stelzl U. (Nat. Methods 2013)
    4. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)
    5. Identification of nine human-specific frameshift mutations by comparative analysis of the human and the chimpanzee genome sequences. (PubMed id 15961456)1 Hahn Y. and Lee B. (Bioinformatics 2005)
    6. The DNA sequence of human chromosome 7. (PubMed id 12853948)2 Hillier L.W.... Wilson R.K. (Nature 2003)
    7. 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. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    8. (PubMed id )2 

    (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: 155368 HGNC: 19068 AceView: WBSCR27 Ensembl:ENSG00000165171 euGenes: HUgn155368
    ECgene: WBSCR27 H-InvDB: WBSCR27

    (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 WBSCR27 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 WBSCR27 gene:
    Search GeneIP for patents involving WBSCR27

    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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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