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WBSCR22 Gene

protein-coding   GIFtS: 56

GC07P072735
Williams Beuren syndrome chromosome region 22
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
EC 2.1.1.- 3
HASJ4442 2
HUSSY-3 2
MGC19709 1, 2
MGC2022 1, 2
MGC5140 1, 2
PP3381 1, 2
WBMT 1, 2
Descriptions
Williams Beuren syndrome chromosome region 22 2
Williams Beuren syndrome chromosome region 22 protein 2
Williams-Beuren candidate region putative methyltransferase 2
Williams-Beuren syndrome chromosomal region 22 protein 3
External Ids
HGNC: 164051
Entrez Gene: 1140492
UniProtKB: O437093
Ensembl: ENSG000000714627
Search outside databases for aliases for WBSCR22 gene

Previous GC identifers: GC07P071738 GC07P072496 GC07P072509 GC07P072542

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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EntrezGene summary for WBSCR22:
This gene encodes a protein containing a nuclear localization signal and an S-adenosyl-L-methionine
binding motif typical of methyltransferases, suggesting that the encoded protein may act on DNA
methylation. This gene is deleted in Williams syndrome, a multisystem developmental disorder
caused by the deletion of contiguous genes at 7q11.23. [provided by RefSeq]

UniProtKB/Swiss-Prot: WBS22_HUMAN, O43709
Function: Methyltransferase that may act on DNA

Gene Wiki entry for WBSCR22

(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 WBSCR22 gene  

Ensembl cytogenetic band:  7q11.23   HGNC cytogenetic band: 7q11.23

WBSCR22 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 GC07P072735:     (about GC identifiers)

Start:
72,735,834 bp from pter
End:
72,750,478 bp from pter
Size:
14,645 bases
Orientation:
plus strand

1 alternative location:
Chr7+,CRA_TCAG 72,430,970-72,445,614     
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: WBS22_HUMAN, O43709 (See protein sequence)
Recommended Name: Uncharacterized methyltransferase WBSCR22  
Size: 281 amino acids; 31880 Da
Subcellular location: Nucleus (Potential)
Sequence caution: Sequence=AAG17249.1; Type=Frameshift; Positions=194, 203;
Secondary accessions: Q96P12 Q9BQ58 Q9HBP9
Alternative splicing: 2 isoforms:  O43709-1   O43709-2   

REFSEQ proteins: NP_059998.2  

ENSEMBL proteins: 
ENSP00000265758 


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
Recombinant Proteins from Abcam (WBSCR22)
Human Recombinant Proteins from Abnova (WBSCR22)
              OriGene Purified Recombinant Human Protein: WBSCR22 

2 Gene Ontology (GO) cellular component terms (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0005575 cellular_component ND--
GO:0005634 nucleus IEA--
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Antibodies for WBSCR22: 
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
Antibodies from Abcam (WBSCR22), each with their AbpromiseSM
Monoclonal and Polyclonal Antibodies from Abnova (WBSCR22)
Novus Biologicals Antibody for WBSCR22

Assays for WBSCR22: 
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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1 InterPro domain/family:
 IPR013216 Methyltransf_11


   GeneDecks  WBSCR22 for the domains selected above  
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Graphical View of Domain Structure for InterPro Entry O43709

ProtoNet protein and cluster: O43709

1 Blocks protein family: IPB013216 Methyltransferase type 11

UniProtKB/Swiss-Prot: WBS22_HUMAN, O43709
Similarity: Belongs to the methyltransferase superfamily

(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 (WBSCR22)
Browse for Gene Knock-down Tools from Millipore
Browse Abnova for Chimera RNAi Products
              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_017528

              Applied Biosystems Silencer® siRNAs for WBSCR22

              Sigma-Aldrich siRNA and siRNA Panels for WBSCR22  
                     Sigma-Aldrich shRNA for WBSCR22  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Clones:Invitrogen Clones for WBSCR22
Browse Clones for the Expression of Recombinant Proteins Available from Millipore
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_017528
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_017528
                                 untagged cDNA clones in CMV expression vector (see all 3): AK091162 

Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
              OriGene genome-wide validated SYBR primer pairs: NM_017528

UniProtKB/Swiss-Prot: WBS22_HUMAN, O43709
Function: Methyltransferase that may act on DNA
Enzyme Number (IUBMB): EC 2.1.1.- 

2 Gene Ontology (GO) molecular function terms (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0008168 methyltransferase activity NAS11124703
GO:0016740 transferase activity IEA--
About this table

(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.)
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5 Kegg Pathways  (Kegg details for WBSCR22):
 hsa00150 Androgen and estrogen metabolism
 hsa00340 Histidine metabolism
 hsa00350 Tyrosine metabolism
 hsa00440 Aminophosphonate metabolism
 hsa00450 Selenoamino acid metabolism

   GeneDecks  WBSCR22 for the pathways selected above  
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5/33 Interacting proteins for WBSCR22 (ENSP000002657583) via UniProtKB, MINT, and/or STRING (see all 33 )
InteractantInteraction Details
GeneCardExternal ID(s)
AHCYENSP000002174263STRING (score=.904)
INMTENSP000000132223STRING (score=.903)
AANATENSP000002506153STRING (score=.899)
AHCYL2ENSP000003159313STRING (score=.899)
CATENSP000002410523STRING (score=.899)
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1 Gene Ontology (GO) biological process term (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0008152 metabolic process IEA--
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 WBSCR22

(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 (WBSCR22)
Browse for Gene Knock-down Tools from Millipore
Browse Abnova for Chimera RNAi Products
              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_017528

              Sigma-Aldrich siRNA and siRNA Panels for WBSCR22  
                     Sigma-Aldrich shRNA for WBSCR22  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Applied Biosystems Silencer® siRNAs: 

NM_017528  

REFSEQ mRNAs for WBSCR22 gene: 

NM_017528.2   

Applied Biosystems TaqMan ® Gene Expression Assays: 

NM_017528  

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_017528
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_017528
                                 untagged cDNA clones in CMV expression vector (see all 3): AK091162 

Additional cDNA sequence: 

AF218007.1 AF412034.1 AF420248.1 AK091162.1 AK126224.1 AK291116.1 AK296375.1 AK309574.1 
AK315032.1 BC000169.2 BC001780.1 BC011696.2 CR602260.1 CR603690.1 CR615237.1 CR623572.1 
CR623973.1 

24/27 DOTS entries (see all 27 ):

DT.95343883  DT.449036  DT.100045556  DT.91697291  DT.100882827  DT.86853322  DT.92453336  DT.311328 
DT.95343877  DT.100882803  DT.86840752  DT.100882800  DT.101985265  DT.40121831  DT.92453315  DT.97835286 
DT.100774069  DT.100882797  DT.100882799  DT.121099520  DT.121099550  DT.121099594  DT.121099598  DT.75156889 

24/434 AceView cDNA sequences (see all 434 ):

BU162699 AW139867 BE729485 BG655742 BU188540 BF432399 AA478382 CB152593 
BE385255 AA355513 BU844912 CB242251 BE274407 BE792796 BQ939916 AA161417 
CR603690 AI423560 NM_017528 BQ271979 CB106743 AL045546 AW651736 AA401387 

highest scoring ESTs for WBSCR22:

AF218007 AF412034 AF420248 AI797997 AJ224442 AK091162 BC000169 BC001780 BC011696 AA115398 

Unigene Cluster for WBSCR22:

Williams Beuren syndrome chromosome region 22
Hs.647063  [show with all ESTs]
Unigene Representative Sequence: AK126224


GeneLoc Exon Structure

5/11 Alternative Splicing Database (ASD) splice patterns (SP) for WBSCR22 (see all 11 )

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

About this scheme

ECgene alternative splicing isoforms for WBSCR22

1 Ensembl transcript including schematic representation:
ENST00000265758  
(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

WBSCR22 expression in normal and diseased human tissues

 Applied Biosystems TaqMan ® Gene Expression Assays for WBSCR22

1 / 2 / 3

7 probe-sets matching WBSCR22 gene


Affymetrix
probe-set
Array  GeneAnnot data GeneNote data GeneTide data
# genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank

40089_at2, 3 U95-A 1 1.00 1.00 0.90 1.01 AJ224442 0.80 1.00 0.91 1
40090_at2, 3 U95-A 1 1.00 1.00 0.98 0.93 AI797997 0.80 1.00 0.91 1

62984_r_at2, 3 U95-C 1 0.75 1.00 0.49 1.08 AA496413 0.40 1.00 0.76 1

207628_s_at2, 3 U133-A 1 1.00 1.00 -- -- NM_017528 0.60 1.00 0.82 1

231415_at2, 3 U133-B 1 0.82 1.00 -- -- AI821527 0.20 1.00 0.72 1

207628_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

231415_at2 U133Plus2 1 0.82 1.00 -- -- -- -- -- -- --
GeneDecks  WBSCR22 for binary patterns associated with the probe-sets selected above  
About GeneDecksing
About this table    
Data from (Publications) and GNF BioGPS
    About these images
About these images

CGAP SAGE TAG: GGTGCTGGAG

SOURCE GeneReport for Unigene cluster: Hs.647063

Expression variation in blood from EXPOLDB for WBSCR22

UniProtKB/Swiss-Prot: WBS22_HUMAN, O43709
Tissue specificity: Strongly expressed in heart, skeletal muscle and kidney. Also expressed in
spleen, liver, lung and testis

(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 WBSCR22 gene from 5/19 species (see all 19 )
Organism Gene Locus Description Human
Similarity
NCBI accessions
dog
(Canis familiaris)
LOC4797171   -- similar to Putative methyltransferase HUSSY-03 (Williams-Beuren more 84.22(n)
83.27(a)
479717  XM_852312.1  XP_857405.1 
chimpanzee
(Pan troglodytes)
LOC7425591   -- similar to putative methyltransferase WBMT 96.44(n)
96.09(a)
742559  XM_001146333.1  XP_001146333.1 
cow
(Bos taurus)
WBSCR221   -- Williams Beuren syndrome chromosome region 22 protein 82.09(n)
81.49(a)
513878  NM_001034457.2  NP_001029629.2 
rat
(Rattus norvegicus)
Wbscr221   -- Williams Beuren syndrome chromosome region 22 81.14(n)
79.36(a)
368084  XM_347254.3  XP_347255.2 
mouse
(Mus musculus)
Wbscr221, 5 55
Williams Beuren syndrome chromosome region 221, 5 82.68(n)1
79.72(a)1
661381  NM_025375.21  NP_079651.21 
 AC0841095  AF4120355  (see all 25)
About this table        Species with no ortholog for WBSCR22

ENSEMBL Gene Tree for WBSCR22
(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
About This Section

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


10/71 NCBI SNPs in WBSCR22 are shown (see all 71 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 27)
ABGenomic DataTranscription DataAllele Frequencies
SNP IDValidChr 7 posSequenceRecsAA
Chg
TypeMoreRecsAllele
freq
PopTotal
sample
More
------------
rs11413201,2
C72750403(+) gggagA/Gaaaaa 1 -- ut31 ese3 trp31Minor allele frequency- G:0.00MN 184
rs104796651,2
A,C,F,H72746860(+) ctgacG/Aattct 1 -- int18Minor allele frequency- A:0.30EU EA WA 838
rs10012201,2
A,C,F,H72748539(-) GAATGA/GACTAG 1 -- int18Minor allele frequency- G:0.46EU EA WA 838
rs119819891,2
C,F,H72743832(+) GCTGAT/GAGTCT 1 -- int14Minor allele frequency- G:0.01EU EA WA 416
rs21411671,2
A,F,H72738660(-) TATCAT/CTGCAC 1 -- int14Minor allele frequency- C:0.16EU EA WA 418
rs22934871,2
C,F,H72746246(-) GAACCA/GAAGTG 1 -- int18Minor allele frequency- G:0.19EA NA EU WA 2026
rs22934901,2
C,F,H72744939(-) TCCCCG/TGCACA 1 -- int15Minor allele frequency- T:0.19EA EU WA 1696
rs22934891,2
C,F,H72745215(-) ACAACA/GGAGAA 1 -- int19Minor allele frequency- N:0.00EA NA EU WA 1922
rs21411661,2
A,F,H72738724(-) CCATTC/TGAAAG 1 -- int14Minor allele frequency- T:0.16EU EA WA 418
rs22934881,2
C,F,H72746141(-) TCCCAC/TGAGAA 1 -- int19Minor allele frequency- T:0.18EA EU WA 2146
About this table

HapMap Linkage Disequilibrium images for WBSCR22 (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: WBS22_HUMAN, O43709
  • Haploinsufficiency of WBSCR22 may be the cause of certain cardiovascular and
    musculo-skeletal abnormalities observed in Williams-Beuren syndrome (WBS) [MIM:194050]. WBS is 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

    9 PubMed articles for WBSCR22 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: 114049 HGNC: 16405 AceView: WBSCR22 Ensembl:ENSG00000071462 euGenes: HUgn114049
    ECgene: WBSCR22 H-InvDB: WBSCR22
    (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 WBSCR22:
     TaqMan ® Gene Expression Assays
     TaqMan ® Genotyping Assays
      Free SNP selection tool



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     Western blot validated antibodies
     shRNA in GFP-retroviral vector
     Search Tocris compounds for WBSCR22




     Search www.enzolifesicences.com for proteins, assays, substrates, inhibitors & antibodies
     Antibodies for WBSCR22

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