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WBSCR28 Gene

protein-coding   GIFtS: 40
GCID: GC07P073275

Williams-Beuren Syndrome Chromosome Region 28

  See WBSCR28-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)
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Aliases
Williams-Beuren Syndrome Chromosome Region 281 2
Williams-Beuren Syndrome Chromosomal Region 28 Protein2
Williams-Beuren Syndrome Critical Region 282

External Ids:    HGNC: 230181   Entrez Gene: 1358862   Ensembl: ENSG000001758777   OMIM: 6125475   UniProtKB: Q6UE053   

Export aliases for WBSCR28 gene to outside databases

Previous GC identifers: GC07P072673 GC07P072687 GC07P072720 GC07P072913 GC07P069158


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for WBSCR28 Gene:
WBSCR28 (Williams-Beuren syndrome chromosome region 28) is a protein-coding gene. Diseases associated with WBSCR28 include williams-beuren 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 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  NC_018918.2  NT_007933.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the WBSCR28 gene promoter:
         ER-alpha   Sox5   MyoD   POU6F1 (c2)   Egr-4   MEF-2A   CREB   HEN1   FAC1   aMEF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidWBSCR28 promoter sequence
   Search Chromatin IP Primers for WBSCR28

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat WBSCR28


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

WBSCR28 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
WBSCR28 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07P073275:  view genomic region     (about GC identifiers)

Start:
73,275,489 bp from pter      End:
73,280,223 bp from pter
Size:
4,735 bases      Orientation:
plus strand

1 alternative location:
Chr7+,CRA_TCAG 72,608,561-72,613,295     

(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, LSBio, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: WBS28_HUMAN, Q6UE05 (See protein sequence)
Recommended Name: Williams-Beuren syndrome chromosomal region 28 protein  
Size: 265 amino acids; 29433 Da
Sequence caution: Sequence=AAQ74836.1; Type=Erroneous translation; Note=Wrong choice of CDS;
Secondary accessions: Q6UE04 Q8NHP4
Alternative splicing: 2 isoforms:  Q6UE05-1   Q6UE05-2   (No experimental confirmation available. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay)

Explore the universe of human proteins at neXtProt for WBSCR28: NX_Q6UE05

Explore proteomics data for WBSCR28 at MOPED


See WBSCR28 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_872310.2  
ENSEMBL proteins: 
 ENSP00000316775   ENSP00000403621  

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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: Q6UE05


(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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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 UniProtKB/Swiss-Prot
WBS28_HUMAN, Q6UE05: Membrane; Multi-pass membrane protein (Potential)
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
plasma membrane3
extracellular1

Gene Ontology (GO): 1 cellular component term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0016021integral component of membrane IEA--

Find genes that share ontologies with WBSCR28           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 WBSCR28
Interactions:

    Search GeneGlobe Interaction Network for WBSCR28

(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 WBSCR28 (WBS28)



(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 WBSCR28 gene: 
NM_182504.3  

Unigene Cluster for WBSCR28:

Williams-Beuren syndrome chromosome region 28
Hs.647026  [show with all ESTs]
Unigene Representative Sequence: AY372054
2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000320531(uc003tzk.2) ENST00000426490(uc003tzl.2)
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Additional mRNA sequence: 

AY372053.1 AY372054.1 BC030643.2 

2 DOTS entries:

DT.308312  DT.100680124 

12 AceView cDNA sequences:

NM_182504 BG720212 BC030643 BX096621 AI969361 AI365155 AY372053 AY372054 
BI826261 AA426067 AA812822 AA781910 

GeneLoc Exon Structure

3 Alternative Splicing Database (ASD) splice patterns (SP) for WBSCR28    About this scheme

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4a · 4b
SP1:              -                           
SP2:                                          
SP3:                                          


ECgene alternative splicing isoforms for WBSCR28

(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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WBSCR28 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: TGGGGCAGCA
WBSCR28 Expression
About this image

WBSCR28 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

WBSCR28 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.647026
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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)
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This gene was present in the common ancestor of human and mouse.

Orthologs for WBSCR28 gene from Selected species (see all 5)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Wbscr281 , 5 Williams-Beuren syndrome chromosome region 28 (human)1, 5 67.43(n)1
60.15(a)1
  5 (74.88 cM)5
766291  NM_194065.31  NP_919041.11 
 1349015945 


ENSEMBL Gene Tree for WBSCR28 (if available)
TreeFam Gene Tree for WBSCR28 (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 WBSCR28 (see all 199)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 7 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1860344981,2
--69156859(+) CAAGGA/CTCCCA 1 -- us2k10--------
rs1905453691,2
--73273491(+) ATCATC/TACATG 1 -- us2k10--------
rs1398846811,2
--73273502(+) TCTAGC/GGGTTT 1 -- us2k10--------
rs1416556181,2
--73273641(+) TGTGCC/TGGTAA 1 -- us2k10--------
rs1823813601,2
--73273677(+) GTCCAA/GCAGGA 1 -- us2k10--------
rs341819061,2
C,F--73273802(+) CTGAAC/TTCAAA 1 -- us2k14Minor allele frequency- T:0.14NA EA 244
rs1112819501,2
C--73273907(+) TTTCTC/TTCTTT 1 -- us2k10--------
rs1855657211,2
--73273943(+) CTTTCC/TTTCTT 1 -- us2k10--------
rs1491321251,2
C--73273994(+) TTCTT-/TCTCTCT 1 -- us2k10--------
rs97691601,2
C--73274228(+) agagaC/Tggggt 1 -- us2k10--------

HapMap Linkage Disequilibrium report for WBSCR28 (73275489 - 73280223 bp)

Structural Variations
     Database of Genomic Variants (DGV) 1 variation for WBSCR28:    About this table    
Variant IDTypeSubtypePubMed ID
nsv831029CNV Loss17160897

Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing WBSCR28
DNA2.0 Custom Variant and Variant Library Synthesis for WBSCR28

(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: 612547    OMIM disorders: --

1 disease for WBSCR28:    
About MalaCards
williams-beuren syndrome


Find genes that share disorders with WBSCR28           About GenesLikeMe


Export disorders for WBSCR28 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 WBSCR28 gene integrated from 10 sources:
(articles sorted by number of sources associating them with WBSCR28)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Identification of genes from a 500-kb region at 7q11.23 that is commonly deleted in Williams syndrome patients. (PubMed id 8812460)1, 3 Osborne L.R.... Tsui L.-C. (Genomics 1996)
  2. Bcl2-associated athanogene 3 interactome analysis reveals a new role in modulating proteasome activity. (PubMed id 23824909)1 Chen Y....Ge F. (amp 2013)
  3. Williams-Beuren syndrome TRIM50 encodes an E3 ubiquitin ligase. (PubMed id 18398435)2 Micale L.... Reymond A. (Eur. J. Hum. Genet. 2008)
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)
  5. The DNA sequence of human chromosome 7. (PubMed id 12853948)2 Hillier L.W.... Wilson R.K. (Nature 2003)
  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. (Proc. Natl. Acad. Sci. U.S.A. 2002)

(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: 135886 HGNC: 23018 AceView: WBSCR28 Ensembl:ENSG00000175877 euGenes: HUgn135886
ECgene: WBSCR28 H-InvDB: WBSCR28

(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 WBSCR28 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 WBSCR28 gene:
Search GeneIP for patents involving WBSCR28

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, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, 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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 inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for WBSCR28
 inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for WBSCR28
 Search LSBio for Antibodies for WBSCR28
 Browse compounds at ApexBio
 Search Addgene for plasmids for WBSCR28
  Search eBioscience for proteins for WBSCR28
  Search eBioscience for elisas for WBSCR28
  eBioscience FlowRNA Probe Sets
Customized transgenic rodents for:
 Humanization
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 Off-target effect monitoring
 Translational medicine
 Tissue-specific gene expresssion
 Time-controlled gene expresssion
 antibodies-online antibodies for WBSCR28
 antibodies-online kits for WBSCR28 (4 products)
  Search antibodies-online for peptides for WBSCR28
 antibodies-online proteins for WBSCR28 (2 products)
       
GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014 , 7 Oct 2014

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