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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

WBSCR28 Gene

protein-coding   GIFtS: 39
GCID: GC07P073275

Williams-Beuren syndrome chromosome region 28
 Explore 2 diseases affiliated with
WBSCR28 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for WBSCR28    

Aliases
for WBSCR28 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Williams-Beuren Syndrome Chromosome Region 281 2
MGC267191
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


Summaries
for WBSCR28 gene

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

Genomic Views
for WBSCR28 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NC_018918.1  NT_007933.15  NT_079593.2  
Regulatory elements:
   SABiosciences 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 plasmid: WBSCR28 promoter sequence
   Search SABiosciences Chromatin IP Primers for WBSCR28

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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     

Proteins
for WBSCR28 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: WBS28_HUMAN, Q6UE05 (See protein sequence)
Recommended Name: Williams-Beuren syndrome chromosomal region 28 protein  
Size: 265 amino acids; 29433 Da
Subcellular location: Membrane; Multi-pass membrane protein (Potential)
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

WBSCR28 Protein expression data from MOPED and PaxDb:    About this image 

Estimated protein expression log10 (pmol).

REFSEQ proteins: NP_872310.2  
ENSEMBL proteins: 
 ENSP00000316775   ENSP00000403621  

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Uscn Proteins for WBSCR28

Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0016021integral to membrane IEA--


WBSCR28 for ontologies           About GeneDecksing



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Protein Domains /
Families
for WBSCR28 gene

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

ProtoNet protein and cluster: Q6UE05


Function
for WBSCR28 gene

(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section
miRNA
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Pathways & Interactions
for WBSCR28 gene

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
About This Section



Interactions:

    Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for WBSCR28

Drugs & Compounds
for WBSCR28 gene

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section
Browse Small Molecules at EMD Millipore
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Browse Tocris compounds for WBSCR28
Search CenterWatch for drugs/clinical trials and news about WBSCR28 / WBS28 

Transcripts
for WBSCR28 gene

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 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,
RNAi Products from EMD Millipore,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section
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)

miRNA
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Inhib. RNA
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Additional cDNA sequence: 

AY372053.1 AY372054.1 BC030643.2 

2 DOTS entries:

DT.308312  DT.100680124 

12 AceView cDNA sequences:

AY372054 BC030643 BX096621 AI969361 AY372053 AI365155 BI826261 BG720212 
NM_182504 AA812822 AA426067 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

Expression
for WBSCR28 gene

(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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

WBSCR28 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TGGGGCAGCA

Microarray
RNAseq (Illumina Body Map)
(100×FPKM)½
SAGE (Serial Analysis of Gene Expression)
About this image
See WBSCR28 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for WBSCR28

SOURCE GeneReport for Unigene cluster: Hs.647026
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In Situ
Assay Products: 
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Orthologs
for WBSCR28 gene

(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)
About This Section
This gene was present in the common ancestor of human and mouse.

Orthologs for WBSCR28 gene from 1/5 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_194065.21  NP_919041.11 
 1349015945 


ENSEMBL Gene Tree for WBSCR28 (if available)
TreeFam Gene Tree for WBSCR28 (if available) 

Paralogs
for WBSCR28 gene

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

Genomic Variants
for WBSCR28 gene

(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

10/142 NCBI SNPs in WBSCR28 are shown (see all 142)     About this table
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance		Chr 7 posSequence#AA
Chg		TypeMore#Allele
freq		PopTotal
sample		More
----------
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
rs1395330591,2
C,--73273894(+) TTCTT-/TCTTTT
TCTTTCTCTCTTT 		1 -- us2k10--------
rs1112819501,2
C--73273907(+) TTTCTC/TTCTTT 1 -- us2k10--------
rs1855657211,2
--73273943(+) CTTTCC/TTTCTT 1 -- us2k10--------
rs1491321251,2
--73273994(+) TTCTT-/TCTCTCT 1 -- us2k10--------
rs97691601,2
C,--73274228(+) agagaC/Tggggt 1 -- us2k10--------

HapMap Linkage Disequilibrium report for WBSCR28 (73275489 - 73280223 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for WBSCR28
     1 CNV: 4542

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Disorders / Diseases
for WBSCR28 gene

(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.)
About This Section
WBSCR28 for disorders           About GeneDecksing

OMIM gene information: 612547    OMIM disorders: --

2 diseases for WBSCR28:    About MalaCards
williams-beuren syndrome    williams syndrome


Export disorders for WBSCR28 gene to outside databases

Publications
for WBSCR28 gene

(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)
About This Section

PubMed articles for WBSCR28 gene integrated from 9 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. (1996)
  2. Williams-Beuren syndrome TRIM50 encodes an E3 ubiquitin ligase. (PubMed id 18398435)2 Micale L....Reymond A. (2008)
  3. 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. (2004)
  4. The DNA sequence of human chromosome 7. (PubMed id 12853948)2 Hillier L.W.... Wilson R.K. (2003)
  5. 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)

External Searches for WBSCR28 gene

(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)

Genome Databases showing WBSCR28 gene

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section
Entrez Gene: 135886 HGNC: 23018 AceView: WBSCR28 Ensembl:ENSG00000175877 euGenes: HUgn135886
ECgene: WBSCR28 H-InvDB: WBSCR28

Other Databases showing WBSCR28 gene

(According to HUGE)
About This Section
   --

Specialized Databases showing WBSCR28 gene

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
NameDescription
PharmGKB entry for WBSCR28 Pharmacogenomics, SNPs, Pathways

Intellectual Property
for WBSCR28 gene

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
About This Section
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



Products
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About This Section

 
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 Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for WBSCR28
 Browse SwitchGear 3'UTR luciferase reporter plasmids for WBSCR28
 SwitchGear Promoter luciferase reporter plasmids for WBSCR28
 ThermoFisher Antibodies for WBSCR28
 Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat WBSCR28
       
GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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VWF
(GIFTS: 73)
von Willebrand factor
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