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Aliases & Descriptions for WBSCR22
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase) About This Section
|
| 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 |
|
| | Search outside databases for aliases for WBSCR22 genePrevious GC identifers: GC07P071738 GC07P072496 GC07P072509 GC07P072542 |
Summaries for WBSCR22(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| 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, O43709Function: Methyltransferase that may act on DNAGene Wiki entry for WBSCR22 |
Genomic Location 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: 7q11.23WBSCR22 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
| Proteins for WBSCR22
(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)
About This Section
| 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 Q9HBP9Alternative splicing: 2 isoforms: O43709-1 O43709-2 REFSEQ proteins: NP_059998.2
ENSEMBL proteins: ENSP00000265758
Human Recombinant Proteins               OriGene Purified Recombinant Human Protein: WBSCR22 
2 Gene Ontology (GO) cellular component terms (links to tree view): About this table
Antibodies for WBSCR22: Assays for WBSCR22: | Protein
Domains/ Families for WBSCR22(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| - 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, O43709Similarity: Belongs to the methyltransferase superfamily | Gene Function for WBSCR22
(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
|               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 
              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, O43709Function: Methyltransferase that may act on DNAEnzyme Number (IUBMB): EC 2.1.1.- 2 Gene Ontology (GO) molecular function terms (links to tree view): About this table | Pathways & Interactions for WBSCR22
(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
|
5/33 Interacting proteins for WBSCR22 (ENSP000002657583) via UniProtKB, MINT, and/or STRING (see all 33
)About this table
1 Gene Ontology (GO) biological process term (links to tree view): | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0008152 | metabolic process |
IEA | -- | About this table
|
Drugs & Compounds for WBSCR22(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 Tocris compounds for WBSCR22
|
Transcripts 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
|               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
|
Expression for WBSCR22
(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 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, O43709Tissue specificity: Strongly expressed in heart, skeletal muscle and kidney. Also expressed in spleen, liver, lung and testis |
Orthologs for WBSCR22
(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
)
About this table Species with no ortholog for WBSCR22
ENSEMBL Gene Tree for WBSCR22 | Paralogs for WBSCR22(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| -- |
SNPs/Variants for WBSCR22(According to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Genotyping Reagents from
Applied Biosystems)
About This Section
|
HapMap Linkage Disequilibrium images for WBSCR22 (up to first 250kb)
|
Disorders & Mutations for WBSCR22
(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 |
Medical News for WBSCR22(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications for WBSCR22 (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:- Characterization of two novel genes, WBSCR20 and WBSCR22, deleted in Williams-Beuren syndrome. (PubMed id 11978965)1, 2, 3, 4 Doll A. and Grzeschik K.H. (2001)
- Identification of additional transcripts in the Williams-Beuren syndrome critical region. (PubMed id 12073013)2, 3, 4 Merla G....Reymond A. (2002)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)3, 4 Gerhard D.S....Malek J. (2004)
- Large-scale cDNA transfection screening for genes related to cancer development and progression. (PubMed id 15498874)3, 4 Wan D....Gu J. (2004)
- The DNA sequence of human chromosome 7. (PubMed id 12853948)3, 4 Hillier L.W.... Wilson R.K. (2003)
- Characterization of 16 novel human genes showing high similarity to yeast sequences. (PubMed id 11124703)3, 4 Stanchi F....Valle G. (2001)
- Nucleolar proteome dynamics. (PubMed id 15635413)3 Andersen J.S....Mann M. (2005)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)3 Ota T....Sugano S. (2004)
- Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)3 Strausberg R.L....Marra M.A. (2002)
|
Search for WBSCR22
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing WBSCR22
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing WBSCR22
(According to HUGE)
About This Section
| -- |
Specialized Databases showing WBSCR22(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
|
| About This Section
| --
| Services for WBSCR22(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:

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Incremental update: 13 Oct 2009
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