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WBSCR16 Gene

protein-coding   GIFtS: 45
GCID: GC07M074456

Williams-Beuren Syndrome Chromosome Region 16

  See WBSCR16-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 161 2
RCC1-Like G Exchanging Factor-Like Protein2 3
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 GC07M070125


(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 WBSCR16 Gene:
This gene encodes a protein containing regulator of chromosome condensation 1-like repeats. The encoded protein
may function as a guanine nucleotide exchange factor. This gene is located in a region of chromosome 7 that is
deleted in Williams-Beuren syndrome, a multisystem developmental disorder. Alternative splicing results in
multiple transcript variants. (provided by RefSeq, Jul 2013)

GeneCards Summary for WBSCR16 Gene:
WBSCR16 (Williams-Beuren syndrome chromosome region 16) is a protein-coding gene. Diseases associated with WBSCR16 include hypertensive retinopathy, and williams-beuren syndrome. An important paralog of this gene is SERGEF.




(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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Regulatory elements:
   Regulatory transcription factor binding sites in the WBSCR16 gene promoter:
         Sox5   NRSF form 1   AP-4   NRSF form 2   C/EBPalpha   CHOP-10   MZF-1   NF-Y   CBF(2)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidWBSCR16 promoter sequence
   Search Chromatin IP Primers for WBSCR16

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat 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 information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M074456:  view genomic region     (about GC identifiers)

Start:
74,441,226 bp from pter      End:
74,490,064 bp from pter
Size:
48,839 bases      Orientation:
minus strand

1 alternative location:
Chr7-,CRA_TCAG 73,789,347-73,822,763     

(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., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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: D3DXK0 Q548B1 Q9H0G7

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

Explore proteomics data for WBSCR16 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See WBSCR16 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001268370.1  NP_110425.2  NP_683682.1  

    ENSEMBL proteins: 
     ENSP00000333799   ENSP00000407250   ENSP00000437702   ENSP00000441127  

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    Cloud-Clone Corp. Proteins for WBSCR16

     
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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:
     IPR009091 RCC1/BLIP-II
     IPR000408 Reg_chr_condens

    Graphical View of Domain Structure for InterPro Entry Q96I51

    ProtoNet protein and cluster: Q96I51

    1 Blocks protein domain: IPB000408 Regulator of chromosome condensation

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


    Find genes that share domains with WBSCR16           About GenesLikeMe


    (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, 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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         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0044822poly(A) RNA binding IDA--
         
    Find genes that share ontologies with WBSCR16           About GenesLikeMe


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for WBSCR16
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    miRNA
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    miRTarBase miRNAs that target WBSCR16:
    hsa-mir-186-5p (MIRT044912), hsa-let-7b-5p (MIRT032286), hsa-mir-503-5p (MIRT041112), hsa-mir-29a-3p (MIRT049968), hsa-mir-16-5p (MIRT031478), hsa-mir-124-3p (MIRT022338), hsa-let-7e-5p (MIRT051455), hsa-mir-185-3p (MIRT038617), hsa-mir-26a-5p (MIRT050077)

    Block miRNA regulation of human, mouse, rat WBSCR16 using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate WBSCR16:
    hsa-miR-3714
    SwitchGear 3'UTR luciferase reporter plasmidWBSCR16 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat WBSCR16

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for WBSCR16


    (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
    nucleus3
    mitochondrion2
    cytosol1

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

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

    Find genes that share ontologies with WBSCR16           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 WBSCR16
    Interactions:

        Search GeneGlobe Interaction Network for WBSCR16

    STRING Interaction Network Preview (showing 5 interactants - click image to see 11)

    Selected Interacting proteins for WBSCR16 (Q96I512, 3 ENSP000003337994) via UniProtKB, MINT, STRING, and/or I2D (see all 252)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ICT1Q141972, 3, ENSP000003015854MINT-8079030 I2D: score=1 STRING: ENSP00000301585
    RBBP6Q7Z6E93, ENSP000003178724I2D: score=2 STRING: ENSP00000317872
    MTERFD1Q96E292, ENSP000002870254MINT-8079030 STRING: ENSP00000287025
    AARS2Q5JTZ92MINT-8079030
    AASSQ9UDR52MINT-8079030
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008150biological_process ND--

    Find genes that share ontologies with WBSCR16           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 WBSCR16 (WBS16)



    (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 WBSCR16 gene (3 alternative transcripts): 
    NM_001281441.1  NM_030798.4  NM_148842.2  

    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000329959(uc010lca.3 uc003ubr.3) ENST00000467007 ENST00000478352(uc010lcb.1)
    ENST00000455375 ENST00000503250 ENST00000543840
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat WBSCR16 using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate WBSCR16:
    hsa-miR-3714
    SwitchGear 3'UTR luciferase reporter plasmidWBSCR16 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for WBSCR16
    Predesigned siRNA for gene silencing in human, mouse, rat WBSCR16
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      QuantiTect SYBR Green Assays in human, mouse, rat WBSCR16
      QuantiFast Probe-based Assays in human, mouse, rat WBSCR16

    Selected AceView cDNA sequences (see all 388):

    BX114147 BG106763 AI701939 BQ933719 NM_030798 BM550670 BU632322 BE378938 
    BM670527 BQ957243 BQ061566 H17128 AI913182 CD673006 AF410455 AW016934 
    BP430822 BQ673587 AW515754 BC040695 BQ441718 BM824532 BQ669245 CA427790 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for WBSCR16 (see all 7)    About this scheme

    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:                                                                                      -                                 


    ECgene alternative splicing isoforms for WBSCR16

    (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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    WBSCR16 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    WBSCR16 Expression
    About this image

    WBSCR16 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    WBSCR16 Protein Expression

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

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for WBSCR16

    (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 animals.

    Orthologs for WBSCR16 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Wbscr161 , 5 Williams-Beuren syndrome chromosome region 16 homolog more1, 5 83.95(n)1
    91.07(a)1
      5 (74.42 cM)5
    942541  NM_033572.21  NP_291050.11 
     1341480545 
    chicken
    (Gallus gallus)
    Aves WBSCR161 Williams-Beuren syndrome chromosome region 16 72.01(n)
    76.21(a)
      417484  NM_001006212.1  NP_001006212.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    74(a)
    62(a)
    1 ↔ many
    1 ↔ many
    GL344694.1(676-3541)
    4(45527331-45528783)
    African clawed frog
    (Xenopus laevis)
    Amphibia CF287772.12   -- 74.48(n)    CF287772.1 
    zebrafish
    (Danio rerio)
    Actinopterygii BQ419571.12   -- 77.59(n)    BQ419571.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG38621 CG3862 52.8(n)
    43.11(a)
      33261  NM_134706.2  NP_608550.1 
    worm
    (Caenorhabditis elegans)
    Secernentea CELE_W09G3.71 CELE_W09G3.7 43.49(n)
    34.5(a)
      173245  NM_001026500.3  NP_001021671.2 


    ENSEMBL Gene Tree for WBSCR16 (if available)
    TreeFam Gene Tree for WBSCR16 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for WBSCR16 gene
    SERGEF2  RCC22  RCBTB22  IBTK2  RCC12  RPGR2  RCBTB12  
    2 SIMAP similar genes for WBSCR16 using alignment to 6 protein entries:     WBS16_HUMAN (see all proteins):
    HERC3    HERC6

    Find genes that share paralogs with WBSCR16           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for WBSCR16
    PGOHUM00000260367


    (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 WBSCR16 (see all 270)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1385465741,2
    C--74456477(+) AACTTA/GGCCTC 1 -- ut310--------
    rs1415114651,2
    --74458423(+) TGATTC/TTTATG 1 -- int10--------
    rs1462213971,2
    --74458430(+) TATGCC/TGGGCG 1 -- int10--------
    rs1885859881,2
    --74463403(+) CAGAAG/TTTTGA 1 -- int10--------
    rs1390772691,2
    C--74463426(+) CAACAC/TAGGAA 1 -- int10--------
    rs3732495031,2
    C--74463775(+) GTTTTA/CAAAAA 1 -- int10--------
    rs1809912961,2
    --74463776(+) TTTTCA/CAAAAA 1 -- int10--------
    rs1439914151,2
    C--74464988(+) GAAGCC/TGGAAG 1 -- int10--------
    rs1852056231,2
    --74466746(+) CACGCA/GAGGTG 1 -- int10--------
    rs2003755721,2
    --74466933(+) TGGTTA/GGGACT 1 -- int10--------

    HapMap Linkage Disequilibrium report for WBSCR16 (74441226 - 74490064 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for WBSCR16:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv820906CNV Deletion20802225
    esv2658348CNV Deletion23128226
    nsv8145CNV Gain18304495
    nsv888381CNV Gain21882294
    esv23295CNV Gain+Loss19812545
    essv21300CNV CNV17122850
    dgv2100e1CNV Complex17122850
    nsv7402OTHER Inversion18451855

    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, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    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

  • 2 diseases for WBSCR16:    
    About MalaCards
    hypertensive retinopathy    williams-beuren syndrome

    1 disease from the University of Copenhagen DISEASES database for WBSCR16:
    Williams-Beuren syndrome

    Find genes that share disorders with WBSCR16           About GenesLikeMe


    Export disorders for WBSCR16 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 WBSCR16 gene, integrated from 10 sources (see all 16):
    (articles sorted by number of sources associating them with WBSCR16)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of additional transcripts in the Williams-Beuren syndrome critical region. (PubMed id 12073013)1, 2, 3 Merla G.... Reymond A. (Hum. Genet. 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. (Genome Res. 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. (Genome Res. 2001)
    4. Development and application of a DNA microarray-based yeast two-hybrid system. (PubMed id 23275563)1 Suter B....Wanker E.E. (Nucleic Acids Res. 2013)
    5. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)
    6. Charting the landscape of tandem BRCT domain-mediated protein interactions. (PubMed id 22990118)1 Woods N.T....Monteiro A.N. (Sci Signal 2012)
    7. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
    8. Toward an understanding of the protein interaction network of the human liver. (PubMed id 21988832)1 Wang J....Yang X. (Mol. Syst. Biol. 2011)
    9. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)
    10. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (amp 2011)

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

    (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 WBSCR16 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
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    IP news from LifeMap Sciences, Inc.)
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    Patent Information for WBSCR16 gene:
    Search GeneIP for patents involving WBSCR16

    GeneCards and IP:
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