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WBSCR16 Gene

protein-coding   GIFtS: 46

GC07M074094
Williams-Beuren syndrome chromosome region 16
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
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Aliases
DKFZp434D0421 2
MGC189739 2
MGC44931 2
Descriptions
RCC1-like G exchanging factor-like 2
RCC1-like G exchanging factor-like protein 3
Williams-Beuren syndrome chromosome region 16 2
External Ids
HGNC: 149481
Entrez Gene: 815542
UniProtKB: Q96I513
Ensembl: ENSG000001743747
Search outside databases for aliases for WBSCR16 gene

Previous GC identifers: GC07P073301 GC07M073839 GC07M073853 GC07M073885

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

EntrezGene 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 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the WBSCR16 gene  

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)

GeneLoc gene densities for chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M074094:     (about GC identifiers)

Start:
74,094,219 bp from pter
End:
74,127,635 bp from pter
Size:
33,417 bases
Orientation:
minus strand

1 alternative location:
Chr7-,CRA_TCAG 73,789,347-73,822,763     
RefSeq DNA sequence:
NC_000007.12  NT_007758.11  NT_079593.2  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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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: Q548B1 Q9H0G7

REFSEQ proteins: NP_110425.1  

ENSEMBL proteins: 
ENSP00000333799 


Human Recombinant Proteins 
Browse Drug Discovery Central at Invitrogen for human recombinant proteins
Browse Purified and Recombinant Proteins at Millipore
Browse Human Recombinant Proteins at Sigma-Aldrich  
Browse R&D Systems for human recombinant proteins
Browse recombinant and purified proteins available from Enzo Life Sciences
Browse Abcam for Recombinant Proteins
Human Recombinant Proteins from Abnova (WBSCR16)
                Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

1 Gene Ontology (GO) cellular component term (links to tree view):

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

Antibodies for WBSCR16: 
Browse Antibodies Central at Invitrogen
Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
Browse Antibodies at Sigma-Aldrich
Browse R&D Systems for Antibodies
Search for antibodies at Abcam and the World's Antibody Gateway (free search engine of over 150 antibody companies)
Monoclonal and Polyclonal Antibodies from Abnova (WBSCR16)
Novus Biologicals Antibody for WBSCR16

Assays for WBSCR16: 
Browse Invitrogen for biochemical assays
Browse Kits and Assays available from Millipore
Browse R&D Systems for biochemical assays
Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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2 InterPro domains/families:
 IPR009091 Reg_csome_cond/b-lactamase_inh
 IPR000408 Reg_chr_condens


   GeneDecks  WBSCR16 for the domains selected above  
About GeneDecksing

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 MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Inhib.
RNA:
Invitrogen RNAi Products for gene knock-down (WBSCR16)
Browse for Gene Knock-down Tools from Millipore
Browse Abnova for Chimera RNAi Products
               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_030798

              Applied Biosystems Silencer® siRNAs for WBSCR16

              Sigma-Aldrich siRNA for WBSCR16  
                     Sigma-Aldrich shRNA for WBSCR16  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Clones:Invitrogen Clones for WBSCR16
Browse Clones for the Expression of Recombinant Proteins Available from Millipore
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_030798
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_030798
                                 untagged cDNA clones in CMV expression vector (see all 2): AK095583 

Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
              OriGene genome-wide validated SYBR primer pairs: NM_030798

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section



5/7 Interacting proteins for WBSCR16 (ENSP000003337993) via UniProtKB, MINT, and/or STRING (see all 7 )
InteractantInteraction Details
GeneCardExternal ID(s)
ABHD11ENSP000002228003STRING (score=.706)
NSUN5ENSP000003091263STRING (score=.706)
NSUN5CENSP000003327243STRING (score=.704)
WBSCR17ENSP000003296543STRING (score=.704)
WBSCR22ENSP000002657583STRING (score=.7)
About this table

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

GO IDQualified GO termEvidencePubMed IDs
GO:0008150 biological_process ND--
About this table
(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 drugs & compounds from Enzo Life Sciences
Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for WBSCR16

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
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 Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib.
RNA:
Invitrogen RNAi Products for gene knock-down (WBSCR16)
Browse for Gene Knock-down Tools from Millipore
Browse Abnova for Chimera RNAi Products
               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_030798

              Sigma-Aldrich siRNA for WBSCR16  
                     Sigma-Aldrich shRNA for WBSCR16  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Applied Biosystems Silencer® siRNAs: 

NM_030798  

REFSEQ mRNAs for WBSCR16 gene: 

NM_030798.3   

Applied Biosystems TaqMan ® Gene Expression Assays: 

NM_030798  

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_030798
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_030798
                                 untagged cDNA clones in CMV expression vector (see all 2): AK095583 

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.95142649  DT.97811175  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 ):

CK821196 C21173 CR595395 AA828240 F09210 BQ670244 AF410455 F11550 
AA295219 BQ441718 BM803130 AI379213 F09799 BF811400 BE551122 CA427790 
CK821195 BM670527 CD672812 H17128 BI962596 BI789128 AW016934 AI205322 

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.716393  [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

1 Ensembl transcript including schematic representation:
ENST00000329959  
(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 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

WBSCR16 expression in normal and diseased human tissues

 Applied Biosystems TaqMan ® Gene Expression Assays for WBSCR16

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

80618_s_at2, 3 U95-E 1 1.00 1.00 0.82 1.15 AW016934 0.40 1.00 0.76 1

89601_at2, 3 U95-E 1 1.00 1.00 0.72 1.10 AI333691 0.20 0.50 0.38 1

68321_at2, 3 U95-E 1 1.00 1.00 0.31 0.47 AA828240 0.40 1.00 0.76 1

65894_at2, 3 U95-C 2 1.00 0.97 0.97 1.25 AA411243 0.40 0.67 0.55 1

52596_f_at2, 3 U95-B 2 1.00 0.97 0.86 1.04 R52511 0.80 1.00 0.91 1

238132_at2, 3 U133-B 1 1.00 1.00 -- -- BF508860 0.20 1.00 0.72 1

221247_s_at2, 3 U133-A 1 1.00 1.00 -- -- NM_030798 0.60 1.00 0.82 1

238132_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

1554409_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

1554410_a_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

221247_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
About this table
Data from (Publications) and GNF BioGPS
    About these images
About these images

CGAP SAGE TAG: --

SOURCE GeneReport for Unigene cluster: Hs.716393

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

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, 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 55
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
(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
About This Section

Paralogs for WBSCR16 gene
RCC22  SNHG3-RCC12  RPGR2  

(According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section


10/61 NCBI SNPs in WBSCR16 are shown (see all 61 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 5)
ABGenomic DataTranscription DataAllele Frequencies
SNP IDValidChr 7 posSequenceRecsAA
Chg
TypeMoreRecsAllele
freq
PopTotal
sample
More
------------
rs102807641,2
C,F,H74127825(+) TCCTCC/TAGCGA 1 -- ng314Minor allele frequency- T:0.15EU EA WA 420
--
rs69556711,2
A,C74127422(+) GCGCCC/TGGCCG 1 R/G mis10--------
--
rs64600921,2
A,C74121310(+) gaggcA/Ggaggt 1 -- int10--------
--
rs77830111,2
A,C74125911(+) atataC/Tatata 1 -- int10--------
--
rs64600931,2
A,C74122859(+) tgatcC/Tgcccg 1 -- int10--------
rs102295021,2
F,H74126189(+) TAGTAT/CAAGGC 1 -- int14Minor allele frequency- C:0.11EU EA WA 418
rs121116541,2
F,H74125033(+) AAATAT/CAGTCT 1 -- int14Minor allele frequency- C:0.06EU EA WA 418
--
rs64600941,2
A,C74126711(+) TGTCTA/CTAAAA 1 -- int10--------
--
rs102345751,2
C74121978(+) gcaagC/Tgaatt 1 -- int10--------
rs69429461,2
H74123650(+) gcccaG/Accagg 1 -- int14Minor allele frequency- A:0.00EU EA WA 386
About this table

HapMap Linkage Disequilibrium images for WBSCR16 (up to first 250kb)

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

UniProtKB/Swiss-Prot: WBS16_HUMAN, Q96I51
  • Haploinsufficiency of WBSCR16 may be the cause of certain cardiovascular and
    musculo-skeletal abnormalities observed in Williams-Beuren syndrome (WBS) [MIM:194050]; a rare
    developmental disorder. It is a contiguous gene deletion syndrome involving genes from chromosome
    band 7q11.23
  • (Possibly Related Articles in Doctor's Guide)
    About This Section

      --

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

    7 PubMed articles for WBSCR16 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)
    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, 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

      --
    (Available from WIS Yeda, Salk, Tufts)
    About This Section

      --
    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



    Products for WBSCR16:
     TaqMan ® Gene Expression Assays
     TaqMan ® Genotyping Assays
      Free SNP selection tool



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