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WBSCR22 Gene

protein-coding   GIFtS: 59
GCID: GC07P073097

Williams Beuren Syndrome Chromosome Region 22

  See WBSCR22-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 221 2     PP33812
Metastasis-Related Methyltransferase 11 2     WBMT2
Williams-Beuren Syndrome Chromosomal Region 22 Protein2 3     Ribosome Biogenesis Methyltransferase WBSCR222
MERM12 5     Williams-Beuren Candidate Region Putative Methyltransferase2
HASJ44422     EC 2.1.1.-3
HUSSY-32     

External Ids:    HGNC: 164051   Entrez Gene: 1140492   Ensembl: ENSG000000714627   OMIM: 6157335   UniProtKB: O437093   

Export aliases for WBSCR22 gene to outside databases

Previous GC identifers: GC07P071738 GC07P072496 GC07P072509 GC07P072542 GC07P072735 GC07P068980


(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 WBSCR22 Gene:
This gene encodes a protein containing a nuclear localization signal and an S-adenosyl-L-methionine binding motif
typical of methyltransferases, suggesting that the encoded protein may act on DNA methylation. This gene is
deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at
7q11.23. Alternatively spliced transcript variants have been found. (provided by RefSeq, Feb 2011)

GeneCards Summary for WBSCR22 Gene:
WBSCR22 (Williams Beuren syndrome chromosome region 22) is a protein-coding gene. Diseases associated with WBSCR22 include williams-beuren syndrome, and supravalvular aortic stenosis. GO annotations related to this gene include methyltransferase activity.

UniProtKB/Swiss-Prot: WBS22_HUMAN, O43709
Function: May function as a methyltransferase involved in the processing of 18S pre-rRNAs and biosynthesis of 40S
ribosomal particles

Gene Wiki entry for WBSCR22 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_000007.13  NT_007933.16  NC_018918.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the WBSCR22 gene promoter:
         AML1a   HNF-4alpha2   STAT5A   Nkx2-5   HNF-4alpha1   Roaz   Max   HOXA5   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidWBSCR22 promoter sequence
   Search Chromatin IP Primers for WBSCR22

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat WBSCR22


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

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

WBSCR22 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
WBSCR22 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07P073097:  view genomic region     (about GC identifiers)

Start:
73,097,355 bp from pter      End:
73,119,491 bp from pter
Size:
22,137 bases      Orientation:
plus strand

1 alternative location:
Chr7+,CRA_TCAG 72,430,970-72,445,614     

(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: WBS22_HUMAN, O43709 (See protein sequence)
Recommended Name: Ribosome biogenesis methyltransferase WBSCR22  
Size: 281 amino acids; 31880 Da
Sequence caution: Sequence=AAG17249.1; Type=Frameshift; Positions=194, 203;
Secondary accessions: A8K501 Q96P12 Q9BQ58 Q9HBP9
Alternative splicing: 2 isoforms:  O43709-1   O43709-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for WBSCR22: NX_O43709

Explore proteomics data for WBSCR22 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys196, Lys255, Lys256
  • Modification sites at PhosphoSitePlus

  • See WBSCR22 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001189489.1  NP_059998.2  

    ENSEMBL proteins: 
     ENSP00000265758   ENSP00000391761   ENSP00000390136   ENSP00000404981   ENSP00000392039  
     ENSP00000390048   ENSP00000391410   ENSP00000398314   ENSP00000401191   ENSP00000415387  
     ENSP00000398732   ENSP00000394852   ENSP00000397056  

    WBSCR22 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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    2 InterPro protein domains:
     IPR022238 Unchr_MeTrfase_Williams-Beuren
     IPR013216 Methyltransf_11

    Graphical View of Domain Structure for InterPro Entry O43709

    ProtoNet protein and cluster: O43709

    1 Blocks protein domain: IPB013216 Methyltransferase type 11

    UniProtKB/Swiss-Prot: WBS22_HUMAN, O43709
    Similarity: Belongs to the methyltransferase superfamily


    Find genes that share domains with WBSCR22           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: WBS22_HUMAN, O43709
    Function: May function as a methyltransferase involved in the processing of 18S pre-rRNAs and biosynthesis of 40S
    ribosomal particles

         Enzyme Number (IUBMB): EC 2.1.1.-1

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008168methyltransferase activity NAS11124703
    GO:0044822poly(A) RNA binding IDA--
         
    Find genes that share ontologies with WBSCR22           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for WBSCR22:
     Nucleolar pre-40S maturation d 

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for WBSCR22

    miRNA
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    miRTarBase miRNAs that target WBSCR22:
    hsa-mir-484 (MIRT042038)

    Block miRNA regulation of human, mouse, rat WBSCR22 using miScript Target Protectors
    2 qRT-PCR Assays for microRNAs that regulate WBSCR22:
    hsa-miR-576-5p hsa-miR-4263
    SwitchGear 3'UTR luciferase reporter plasmidWBSCR22 3' UTR sequence
    Inhib. RNA
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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
    WBS22_HUMAN, O43709: Nucleus. Note=Localized diffusely throughout the nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus3
    cytosol2
    mitochondrion1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005575cellular_component ND--
    GO:0005634nucleus IEA--

    Find genes that share ontologies with WBSCR22           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 WBSCR22 About    
    See pathways by source

    SuperPathContained pathways About
    1Phenylalanine metabolism
    Tyrosine metabolism0.36
    2Histidine metabolism
    Histidine metabolism


    Find genes that share SuperPaths with WBSCR22           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways




    2 Kegg Pathways  (Kegg details for WBSCR22):
        Histidine metabolism
    Tyrosine metabolism

        Pathway & Disease-focused RT2 Profiler PCR Array including WBSCR22: 
              Amino Acid Metabolism II in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for WBSCR22

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

    Selected Interacting proteins for WBSCR22 (O437093 ENSP000002657584) via UniProtKB, MINT, STRING, and/or I2D (see all 33)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DHX37Q8IY373, ENSP000003111354I2D: score=3 STRING: ENSP00000311135
    BYSLQ138953, ENSP000002303404I2D: score=1 STRING: ENSP00000230340
    PRKAB1Q9Y4783, ENSP000002293284I2D: score=1 STRING: ENSP00000229328
    CNBPP626333I2D: score=1 
    FOSP011003I2D: score=1 
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006364rRNA processing IEA--
    GO:0008150biological_process ND--
    GO:0008152metabolic process ----

    Find genes that share ontologies with WBSCR22           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 WBSCR22 (WBS22)



    (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 WBSCR22 gene (2 alternative transcripts): 
    NM_001202560.2  NM_017528.4  

    Unigene Cluster for WBSCR22:

    Williams Beuren syndrome chromosome region 22
    Hs.647063  [show with all ESTs]
    Unigene Representative Sequence: BF213257
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 19):
    ENST00000464615 ENST00000265758(uc003tyu.3 uc003tyt.3 uc022afv.1)
    ENST00000421304 ENST00000432522 ENST00000421744(uc010lbi.1) ENST00000478670
    ENST00000496153 ENST00000441822 ENST00000428163 ENST00000436944 ENST00000463307
    ENST00000430270(uc003tyv.3) ENST00000423497 ENST00000487006 ENST00000430446
    ENST00000442099 ENST00000453316 ENST00000471215
    miRNA
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    2 qRT-PCR Assays for microRNAs that regulate WBSCR22:
    hsa-miR-576-5p hsa-miR-4263
    SwitchGear 3'UTR luciferase reporter plasmidWBSCR22 3' UTR sequence
    Inhib. RNA
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat WBSCR22
      QuantiTect SYBR Green Assays in human, mouse, rat WBSCR22
      QuantiFast Probe-based Assays in human, mouse, rat WBSCR22

    Additional mRNA sequence: 

    AF218007.1 AF412034.1 AF420248.1 AK291116.1 AK315032.1 BC000169.2 BC001780.1 BC011696.2 
    NR_037776.2 NR_045512.1 

    Selected DOTS entries (see all 27):

    DT.95343883  DT.449036  DT.100045556  DT.91697291  DT.100882827  DT.92453336  DT.86853322  DT.100882803 
    DT.86840752  DT.100882800  DT.101985265  DT.40121831  DT.92453315  DT.97835286  DT.100774069  DT.100882797 
    DT.100882799  DT.121099520  DT.121099550  DT.121099594  DT.121099598  DT.75156889  DT.92453326  DT.95343877 

    Selected AceView cDNA sequences (see all 434):

    BQ721300 BU162699 CR623973 BE274210 AA720623 BI084123 CB152593 Z41689 
    F19213 AA401387 CA773945 BE390452 BM687678 BE385255 BQ058497 BF436057 
    BE729485 BE280467 AA508840 AI401248 BP357367 CR623572 CA771078 BE742393 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for WBSCR22 (see all 11)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c · 2d · 2e ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b ^ 10a · 10b ^ 11 ^ 12a · 12b
    SP1:                                                                                      -           -     -                 -                     
    SP2:                          -     -     -     -                                         -           -     -                 -                     
    SP3:                          -     -     -     -                                                     -     -                 -                     
    SP4:                                -     -     -                                         -                                                         
    SP5:                                                                    -     -           -           -     -                 -                     


    ECgene alternative splicing isoforms for WBSCR22

    (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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    WBSCR22 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGTGCTGGAG
    WBSCR22 Expression
    About this image


    WBSCR22 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Testis (Reproductive System)
             XY Germ Cells Testis Cord
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Gonad
             XY Germ Cells Testis Cord
     
     Thyroid (Endocrine System)
     
     Uterus (Reproductive System)
    WBSCR22 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    WBSCR22 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.647063

    UniProtKB/Swiss-Prot: WBS22_HUMAN, O43709
    Tissue specificity: Strongly expressed in heart, skeletal muscle and kidney. Also expressed in spleen, liver, lung
    and testis

        Pathway & Disease-focused RT2 Profiler PCR Array including WBSCR22: 
              Amino Acid Metabolism II in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for WBSCR22

    (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 WBSCR22 gene from Selected species (see all 22)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Wbscr221 , 5 Williams Beuren syndrome chromosome region 221, 5 82.68(n)1
    79.72(a)1
      5 (74.97 cM)5
    661381  NM_025375.31  NP_079651.21 
     1350529575 
    chicken
    (Gallus gallus)
    Aves WBSCR221 Williams Beuren syndrome chromosome region 22 70.7(n)
    71.17(a)
      431053  NM_001039332.1  NP_001034421.1 
    lizard
    (Anolis carolinensis)
    Reptilia WBSCR226
    Williams Beuren syndrome chromosome region 22
    69(a)
    1 ↔ 1
    GL343734.1(229210-242735)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia wbscr221 Williams Beuren syndrome chromosome region 22 66.67(n)
    67.26(a)
      496966  NM_001011475.1  NP_001011475.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wbscr221 Williams Beuren syndrome chromosome region 22 67.97(n)
    66.19(a)
      572367  NM_001082879.1  NP_001076348.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG109031 CG10903 59.25(n)
    60.22(a)
      40952  NM_141505.4  NP_649762.1 
    worm
    (Caenorhabditis elegans)
    Secernentea C27F2.41 C27F2.4 53.57(n)
    54.29(a)
      175671  NM_065650.3  NP_498051.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes BUD23(YCR047C)4
    BUD231
    Methyltransferase, methylates residue G1575 of 18S more4
    BUD231
    53.21(n)1
    50(a)1
      3(211545-210718)4
    8504141, 4  NP_009976.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT5G572801 AT5G57280 55.2(n)
    53.33(a)
      835833  NM_125110.5  NP_200538.1 
    rice
    (Oryza sativa)
    Liliopsida Os02g08043001 Os02g0804300 57.84(n)
    54.7(a)
      4331056  NM_001054967.1  NP_001048432.1 


    ENSEMBL Gene Tree for WBSCR22 (if available)
    TreeFam Gene Tree for WBSCR22 (if available)

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

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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 WBSCR22 (see all 310)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1883361091,2
    --73099819(+) TCTATC/TGCCCA 4 -- int10--------
    rs1823572511,2
    --73099837(+) GTGCTA/GCAGTG 4 -- int10--------
    rs1853967791,2
    --73099899(+) CCCGAA/CTAGTT 4 -- int10--------
    rs352018751,2
    C--73100266(+) AAAAAA/-TTAGC 4 -- int11Minor allele frequency- -:0.00NA 2
    rs1435740651,2
    --73100350(+) TAACCC/TGGGAG 4 -- int10--------
    rs357032061,2
    C--73100429(+) GTCTC-/AAAAAA 4 -- int12Minor allele frequency- A:0.00NA CSA 4
    rs117621911,2
    C,F,A,H--73100487(+) TTCTTG/CACTGG 4 -- int111Minor allele frequency- C:0.47NA WA CSA EA 374
    rs755306541,2
    C,F--73100588(+) GAAACT/CATGGA 4 -- int11Minor allele frequency- C:0.05WA 118
    rs1906452051,2
    --73100637(+) AGCAGC/TCCAGC 4 -- int10--------
    rs21411671,2
    C,F,A,H--73100724(-) TATCAT/CTGCAC 4 -- int110Minor allele frequency- C:0.17NS EA NA CSA WA 782

    HapMap Linkage Disequilibrium report for WBSCR22 (73097355 - 73119491 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for WBSCR22:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv831028CNV Loss17160897
    nsv888371CNV Loss21882294
    nsv888370CNV Loss21882294
    dgv7325n71CNV Loss21882294
    nsv469841CNV Complex16826518

    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing WBSCR22
    DNA2.0 Custom Variant and Variant Library Synthesis for WBSCR22

    (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: 615733    OMIM disorders: --

    UniProtKB/Swiss-Prot: WBS22_HUMAN, O43709
  • Note=WBSCR22 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
    WBSCR22 may be the cause of certain cardiovascular and musculo-skeletal abnormalities observed in the disease

  • 2 diseases for WBSCR22:    
    About MalaCards
    williams-beuren syndrome    supravalvular aortic stenosis

    2 diseases from the University of Copenhagen DISEASES database for WBSCR22:
    Williams-Beuren syndrome     Supravalvular aortic stenosis

    Find genes that share disorders with WBSCR22           About GenesLikeMe


    Export disorders for WBSCR22 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 WBSCR22 gene, integrated from 10 sources (see all 30):
    (articles sorted by number of sources associating them with WBSCR22)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Characterization of two novel genes, WBSCR20 and WBSCR22, deleted in Williams-Beuren syndrome. (PubMed id 11978965)1, 2, 3, 9 Doll A. and Grzeschik K.-H. (Cytogenet. Cell Genet. 2001)
    2. Identification of additional transcripts in the Williams-Beuren syndrome critical region. (PubMed id 12073013)1, 2, 3 Merla G.... Reymond A. (Hum. Genet. 2002)
    3. The novel metastasis promoter Merm1/Wbscr22 enhances tumor cell survival in the vasculature by suppressing Zac1/p53-dependent apoptosis. (PubMed id 21148752)1, 3 Nakazawa Y....Fujita N. (Cancer Res. 2011)
    4. Large-scale cDNA transfection screening for genes related to cancer development and progression. (PubMed id 15498874)1, 2 Wan D....Gu J. (Proc. Natl. Acad. Sci. U.S.A. 2004)
    5. 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)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    7. The DNA sequence of human chromosome 7. (PubMed id 12853948)1, 2 Hillier L.W.... Wilson R.K. (Nature 2003)
    8. Characterization of 16 novel human genes showing high similarity to yeast sequences. (PubMed id 11124703)1, 2 Stanchi F.... Valle G. (Yeast 2001)
    9. The human WBSCR22 protein is involved in the biogenesis of the 40S ribosomal subunits in mammalian cells. (PubMed id 24086612)2 Ounap K.... Kurg R. (PLoS ONE 2013)
    10. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)

    (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: 114049 HGNC: 16405 AceView: WBSCR22 Ensembl:ENSG00000071462 euGenes: HUgn114049
    ECgene: WBSCR22 Kegg: 114049 H-InvDB: WBSCR22

    (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 WBSCR22 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 WBSCR22 gene:
    Search GeneIP for patents involving WBSCR22

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



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