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WBSCR16 Gene

protein-coding   GIFtS: 42

GC07M070125
Williams-Beuren syndrome chromosome region 16
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Products    

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

Aliases & Descriptions
Williams-Beuren syndrome chromosome region 161 2
RCC1-like G exchanging factor-like protein2 3
DKFZp434D04212
MGC1897392
MGC449312
Williams-Beuren syndrome chromosomal region 16 protein2

External Ids:    HGNC: 149481   Entrez Gene: 815542   Ensembl: ENSG000001743747   UniProtKB: Q96I513   

Export aliases for WBSCR16 gene to outside databases

Previous GC identifers: GC07P073301 GC07M073839 GC07M073853 GC07M073885 GC07M074094 GC07M074456


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

Entrez Gene summary for WBSCR16:
This gene encodes an RCC1-like G-exchanging factor. It is deleted in Williams syndrome, a multisystem developmental
disorder caused by the deletion of contiguous genes at 7q11.23. (provided by RefSeq)


(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 60), Regulatory elements and Epigenetics data according to Qiagen and/or SABiosciences)
About This Section

Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the WBSCR16 gene promoter:
         MIF-1   PPAR-gamma2   PPAR-gamma1   RFX1   YY1   NF-YA   NF-Y   CP1A   C/EBPalpha   Pbx1a   
         Other transcription factors

   Search SABiosciences Chromatin IP Primers for WBSCR16

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays for WBSCR16 


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

WBSCR16 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
WBSCR16 gene location

GeneLoc gene densities for chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M070125:  view genomic region     (about GC identifiers)

Start:
70,125,499 bp from pter
End:
70,155,526 bp from pter
Size:
30,028 bases
Orientation:
minus strand

1 alternative location:
Chr7- 74,456,291-74,490,064     
RefSeq DNA sequence:
NC_000007.13  NT_007933.15  NT_079593.2  

(According to 1UniProtKB, neXtProt, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Millipore, Sigma-Aldrich, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, and/or ProSpec,
Biochemical Assays by Millipore, Sigma-Aldrich, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Dec 2010 and Entrez Gene, Antibodies by Millipore, Sigma-Aldrich, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, and/or Epitomics)
About This Section

UniProtKB/Swiss-Prot: WBS16_HUMAN, Q96I51 (See protein sequence)
Recommended Name: Williams-Beuren syndrome chromosomal region 16 protein  
Size: 464 amino acids; 49997 Da
Secondary accessions: Q548B1 Q9H0G7

Explore the universe of human proteins at neXtProt for WBSCR16: NX_Q96I51 

Post-translational modifications:

  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins: NP_110425.1  

    ENSEMBL proteins: 
    ENSP00000407250 ENSP00000333799 


    Human Recombinant Proteins 
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    2 Gene Ontology (GO) cellular component terms (GO ID links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005575 cellular_component ND--
    GO:0005739 mitochondrion IEA--
    About this table

    WBSCR16 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

    WBSCR16 for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR009091 Reg_csome_cond/b-lactamase_inh
     IPR000408 Reg_chr_condens

    Graphical View of Domain Structure for InterPro Entry Q96I51

    ProtoNet protein and cluster: Q96I51

    1 Blocks protein family: IPB000408 Regulator of chromosome condensation

    UniProtKB/Swiss-Prot: WBS16_HUMAN, Q96I51
    Similarity: Contains 6 RCC1 repeats


    (According to UniProtKB, IUBMB,and/or Genatlas, Animal models from MGI Dec 24 2010,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Millipore, siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich, microRNA from Sigma-Aldrich, Qiagen, SABiosciences, Clones from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, Cell Lines from GenScript, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene.)
    About This Section

    Inhib.
    RNA:
        
    Browse for Gene Knock-down Tools from Millipore
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    Gene
    Editing:
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    Clones:Browse Clones for the Expression of Recombinant Proteins Available from Millipore
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    OriGene GFP tagged cDNA clones in CMV expression vector: WBSCR16
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector: WBSCR16
    OriGene untagged cDNA clones in CMV expression vector (see all 2): WBSCR16
    OriGene 3'-UTR clone: WBSCR16 
    Browse MicroRNA Expression Plasmids 
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    Browse Sino Biological Human cDNA Clones

    Cell
    Lines:
      
    GenScript Custom overexpressing Cell Line Services for WBSCR16 


    (Pathways according to Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB, Sets of similar genes according to GeneDecks, PCR Arrays from SABiosciences, Proteins Network according to SABiosciences, Sigma-Aldrich, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene).
    About This Section

        SABiosciences Custom Pathway-Focused PCR Arrays for WBSCR16 

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for WBSCR16

    5/234 Interacting proteins for WBSCR16 (Q96I512) via UniProtKB, MINT, and/or STRING (see all 234)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    AARS2Q5JTZ92MINT-8079030
    AASSQ9UDR52MINT-8079030
    ACAD9Q9H8452MINT-8079030
    ACADVLP497482MINT-8079030
    ACOT9Q9Y3052MINT-8079030
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008150 biological_process ND--
    About this table

    WBSCR16 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section
    Browse Small Molecules at Sigma-Aldrich
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for WBSCR16


    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 228 Homo sapiens; Dec 8 2010) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Millipore,
    siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene, microRNA from Sigma-Aldrich, Qiagen, SABiosciences,
    Tagged/untagged cDNA clones from OriGene, Sigma-Aldrich, GenScript, Primers from OriGene and/or SABiosciences)
    About This Section

    Inhib.
    RNA:
         
    Browse for Gene Knock-down Tools from Millipore
    Browse Nano Scale siRNA at Sigma-Aldrich
    Sigma-Aldrich esiRNA and siRNA for WBSCR16
    Sigma-Aldrich shRNA for WBSCR16
    OriGene 29mer shRNA kits in GFP-retroviral vector (see all 3): WBSCR16
    OriGene shRNA RFP (see all 3): WBSCR16
    OriGene basic RS shRNA (see all 3): WBSCR16
    OriGene siRNA (see all 2): WBSCR16
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of WBSCR16 
    miRNA: Sigma-Aldrich microRNA Mimics for WBSCR16
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    Search SABiosciences for Assays for microRNAs that regulate WBSCR16
    Clones: Browse FLAG tag genes at Sigma-Aldrich
    OriGene GFP tagged cDNA clones in CMV expression vector: WBSCR16
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector: WBSCR16
    OriGene untagged cDNA clones in CMV expression vector (see all 2): WBSCR16
    OriGene 3'-UTR Clone: WBSCR16 
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    Primers: OriGene genome-wide validated SYBR primer pairs: WBSCR16
    Browse OriGene validated miRNA SYBR primer pairs 
    SABiosciences RT2 qPCR Primer Assay for WBSCR16: PPH20694A

    REFSEQ mRNAs for WBSCR16 gene: 

    NM_030798.3  

    Additional cDNA sequence: 

    AF410455.1 AK057870.1 AK172855.1 AK309117.1 AL136804.1 AL831977.1 BC007823.2 BC019008.2 
    BC032712.1 BC040695.1 BC157844.1 CR595395.1 

    24/40 DOTS entries (see all 40):

    DT.446405  DT.100706758  DT.102839870  DT.97811175  DT.95142649  DT.95142640  DT.121643848  DT.121117050 
    DT.97791291  DT.97802582  DT.109712  DT.121116706  DT.100773359  DT.92442978  DT.100774964  DT.100030775 
    DT.121116990  DT.95142645  DT.40123715  DT.428902  DT.85105582  DT.92442982  DT.95142644  DT.100716404 

    24/388 AceView cDNA sequences (see all 388):

    BQ441718 BM551815 BC007823 CA427790 BP430822 BU632322 AW515754 AI205322 
    BC019008 NM_030798 BX355257 BM550670 AI701939 BQ933719 BG106763 BX114147 
    AI913182 CD673006 BE378938 AA828240 CD671424 H17128 BM803130 AK123110 

    highest scoring ESTs for WBSCR16:

    AF410455 AL136804 AL527548 AL536085 AL560983 BC007823 BC019008 BC032712 BC040695 BE207607 

    Unigene Cluster for WBSCR16:

    Williams-Beuren syndrome chromosome region 16
    Hs.723684  [show with all ESTs]
    Unigene Representative Sequence: AL831977


    GeneLoc Exon Structure

    5/7 Alternative Splicing Database (ASD) splice patterns (SP) for WBSCR16 (see all 7)

    ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12a · 12b ^ 13a · 13b ^ 14
    SP1:              -                                                                                                         
    SP2:                                                                                      -                                 
    SP3:                                                                                      -                                 
    SP4:                                                                                                                        
    SP5:                                                                                      -                                 

    About this scheme

    ECgene alternative splicing isoforms for WBSCR16
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000455375 ENST00000478352(uc010lcb.1) ENST00000329959(uc010lca.2 uc003ubr.2)
    ENST00000467007

    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 228 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Primers from OriGene and/or SABiosciences )
    About This Section

    WBSCR16 expression in normal and diseased human tissues

    1  / 2  / 3

    11 probe-sets matching WBSCR16 gene

    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    89601_at2, 3 U95-E 1 1.00 1.00 0.72 1.10 AI333691 0.20 0.50 0.38 1
    80618_s_at2, 3 U95-E 1 0.94 1.00 0.82 1.15 AW016934 0.40 1.00 0.76 1
    52596_f_at2, 3 U95-B 1 0.94 1.00 0.86 1.04 R52511 0.80 1.00 0.91 1
    65894_at2, 3 U95-C 1 0.88 1.00 0.97 1.25 AA411243 0.40 0.67 0.55 1
    68321_at2, 3 U95-E 1 0.50 1.00 0.31 0.47 AA828240 0.40 1.00 0.76 1
    221247_s_at2, 3 U133-A 1 0.82 1.00 -- -- NM_030798 0.60 1.00 0.82 1
    238132_at2, 3 U133-B 1 0.36 1.00 -- -- BF508860 0.20 1.00 0.72 1
    1554410_a_at2 U133Plus2 2 1.00 0.64 -- -- -- -- -- -- --
    221247_s_at2 U133Plus2 1 0.82 1.00 -- -- -- -- -- -- --
    238132_at2 U133Plus2 1 0.36 1.00 -- -- -- -- -- -- --
    1554409_at2 U133Plus2 1 0.27 1.00 -- -- -- -- -- -- --
    About this table

    WBSCR16 for expression           About GeneDecksing

    Data from Genenote  (Publications) and GNF BioGPS
        About these images
    WBSCR16 gene expression
    WBSCR16 gene electronic northern expression
    WBSCR16 gene sage expression
    About these images

    CGAP SAGE TAG: --

    SOURCE GeneReport for Unigene cluster: Hs.723684

    UniProtKB/Swiss-Prot: WBS16_HUMAN, Q96I51
    Tissue specificity: Ubiquitous

    Primers: OriGene genome-wide validated SYBR primer pairs: WBSCR16
    Browse OriGene validated miRNA SYBR primer pairs 
    SABiosciences RT2 qPCR Primer Assay for WBSCR16: PPH20694A
        SABiosciences Custom PCR Arrays for WBSCR16 


    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Dec 24 2010, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section

    Orthologs for WBSCR16 gene from 5/13 species (see all 13)
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    LOC4897931   -- similar to RCC1-like G exchanging factor-like isoform more 86.55(n)
    89.58(a)
    489793  XM_546911.2  XP_546911.2 
    chimpanzee
    (Pan troglodytes)
    WBSCR161   -- Williams-Beuren syndrome chromosome region 16 99.43(n)
    99.57(a)
    463474  XM_001153683.1  XP_001153683.1 
    cow
    (Bos taurus)
    LOC5132731   -- similar to Williams-Beuren syndrome chromosomal region more 87.5(n)
    92.24(a)
    513273  XM_590936.3  XP_590936.2 
    rat
    (Rattus norvegicus)
    Wbscr161   -- Williams-Beuren syndrome chromosome region 16 homolog more 83.92(n)
    90.61(a)
    360796  XM_341066.3  XP_341067.1 
    mouse
    (Mus musculus)
    Wbscr161 , 5 5 (74.42 cM)5
    Williams-Beuren syndrome chromosome region 16 homolog more1, 5 84.1(n)1
    91.03(a)1
    942541  NM_033572.11  NP_291050.11 
     AA0087275  AF2677475  (see all 19)
    About this table        Species with no ortholog for WBSCR16

    ENSEMBL Gene Tree for WBSCR16 (if available)

    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section
    Paralogs for WBSCR16 gene
    SERGEF2  HERC12  RCBTB22  HERC2P92  ENSG000002236812  HERC22  HECTD32  RCBTB12  

    WBSCR16 for paralogs           About GeneDecksing



    (SNPs according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Resequencing Primers from Qiagen)
    About This Section

    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 3 variations for WBSCR16
         3 CNVs: 3686 64862 31363
    QIAGEN SeqTarget long-range PCR primers for resequencing WBSCR16 

    (in which this Gene is Involved, According to OMIM, UniProtKB, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, LSDB, HGMD, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    WBSCR16 for disorders           About GeneDecksing

    UniProtKB/Swiss-Prot: WBS16_HUMAN, Q96I51
  • Note=WBSCR16 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 WBSCR16 may be the
    cause of certain cardiovascular and musculo-skeletal abnormalities observed in the disease


    Export disorders and mutations for WBSCR16 gene to outside databases


    (Possibly Related Articles in Doctor's Guide)
    About This Section
      --

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6UniProtKB/TrEMBL, and/or 7Novoseek)
    About This Section

    7 PubMed articles for WBSCR16 gene integrated from 7 sources:
    (articles sorted by number of sources associating them with WBSCR16)
    1. Identification of additional transcripts in the Williams-Beuren syndrome critical region. (PubMed id 12073013)1, 2, 3 Merla G....Reymond A. (2002)
    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. (2004)
    3. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PubMed id 11230166)1, 2 Wiemann S.... Poustka A. (2001)
    4. The LIFEdb database in 2006. (PubMed id 16381901)1 Mehrle A....Wiemann S. (2006)
    5. From ORFeome to biology: a functional genomics pipeline. (PubMed id 15489336)1 Wiemann S....Poustka A. (2004)
    6. 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)
    7. DNA cloning using in vitro site-specific recombination. (PubMed id 11076863)1 Hartley J.L....Brasch M.A. (2000)

    (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: 81554 HGNC: 14948 AceView: WBSCR16 Ensembl:ENSG00000174374 euGenes: HUgn81554
    ECgene: WBSCR16 H-InvDB: WBSCR16

    (According to HUGE)
    About This Section
      --

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

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from XenneX, Inc.)
    About This Section
    Patent Information for WBSCR16 gene:
    Search GeneIP for patents involving WBSCR16

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



    (Antibodies, recombinant proteins, and assays by Millipore, Sigma-Aldrich, R&D Systems, Qiagen, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Epitomics, ProSpec, Uscn,
    Clones available from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, PCR Arrays from SABiosciences, Drugs and/or compounds by Sigma-Aldrich, Tocris Bioscience, and/or Enzo Life Sciences)
    About This Section

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    GeneCards Homepage - Last full update: 31 Dec 2010 - Incremental updates: 10 Jan 2011 , 10 Jan 2011

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