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WBSCR27 Gene

protein-coding GIFtS: 46

GC07M072886

Williams Beuren syndrome chromosome region 27
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase)
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Aliases
MGC40131 ^²

Descriptions
Williams Beuren syndrome chromosome region 27 ^²
Williams-Beuren syndrome chromosome region 27 ^²

External Ids
HGNC: 19068¹
Entrez Gene: 155368²
UniProtKB: Q8N6F8³
Ensembl: ENSG00000165171⁷

Search outside databases for aliases for WBSCR27 gene

Previous GC identifers: GC07M071890 GC07M072647 GC07M072661 GC00U917011 GC07M072693

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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EntrezGene summary for WBSCR27:

This gene encodes a protein belonging to ubiE/COQ5 methyltransferase family. The gene is deleted in

Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes

at 7q11.22-q11.23. [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 WBSCR27 gene

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

WBSCR27 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 GC07M072886: (about GC identifiers)

Start:	72,886,856 bp from pter
End:	72,894,801 bp from pter
Size:	7,946 bases
Orientation:	minus strand

1 alternative location:

Chr7-,CRA_TCAG 72,581,992-72,589,927

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: WBS27_HUMAN, Q8N6F8 (See protein sequence)

Recommended Name: Williams-Beuren syndrome chromosomal region 27 protein

Size: 245 amino acids; 26680 Da

REFSEQ proteins: NP_689772.2

ENSEMBL proteins:

ENSP00000297873

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Browse Purified and Recombinant Proteins at Millipore
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	Browse R&D Systems for human recombinant proteins
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	Human Recombinant Proteins from Abnova (WBSCR27)

OriGene Purified Recombinant Human Protein: WBSCR27

Antibodies for WBSCR27:

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Assays for WBSCR27:

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	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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Graphical View of Domain Structure for InterPro Entry Q8N6F8

ProtoNet protein and cluster: Q8N6F8

1 Blocks protein family: IPB013216 Methyltransferase type 11

(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.)
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Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (WBSCR27)
		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_152559

Applied Biosystems Silencer® siRNAs for WBSCR27

Sigma-Aldrich siRNA for WBSCR27

Sigma-Aldrich shRNA for WBSCR27

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Invitrogen Clones for WBSCR27
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clone in CMV expression vector: NM_152559
Myc/DDK tagged cDNA clone in CMV expression vector: NM_152559
untagged cDNA clones in CMV expression vector (see all 2): BC030295

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: BC030295

1 Gene Ontology (GO) molecular function term (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0008168	methyltransferase 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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3 Interacting proteins for WBSCR27 (ENSP00000297873³) via UniProtKB, MINT, and/or STRING

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
PRRT3	ENSP00000295984³	STRING (score=.712)
ZCCHC13	ENSP00000345633³	STRING (score=.706)
--	ENSP00000374466³	STRING (score=.712)

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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

(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 WBSCR27

(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 (WBSCR27)
		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_152559

Sigma-Aldrich siRNA for WBSCR27

Sigma-Aldrich shRNA for WBSCR27

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_152559

REFSEQ mRNAs for WBSCR27 gene:

NM_152559.2

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_152559

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_152559
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_152559
                                 untagged cDNA clones in CMV expression vector (see all 2): BC030295

Additional cDNA sequence:

AF534110.1 AK301597.1 AY354928.1 BC030295.2

1 DOTS entry:

DT.100019105

12 AceView cDNA sequences:

NM_152559 AI457405 AY354928 BC030295 BX112517 AF534110 BI856424 AW804629

AW079211 AA535916 BU194377 BI006797

highest scoring ESTs for WBSCR27:

AA535916 AF534110 AY354928 BI856424 AI457405 AW079211 AW804629 BC030295 BU194377 BX112517

Unigene Cluster for WBSCR27:

Williams Beuren syndrome chromosome region 27

Hs.647042 [show with all ESTs]

Unigene Representative Sequence: NM_152559

GeneLoc Exon Structure

1 Ensembl transcript including schematic representation:

ENST00000297873

(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

WBSCR27 expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for WBSCR27

¹ / ² / ³

2 probe-sets matching WBSCR27 gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
84272_at²^{, 3}	U95-D	1	0.69	1.00	1.00	1.00	AA535916	0.80	1.00	0.91	1
1553778_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--

GeneDecks WBSCR27 for binary patterns associated with the probe-sets selected above

About GeneDecksing

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Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: TGGCCTTAGC

SOURCE GeneReport for Unigene cluster: Hs.647042

(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 WBSCR27 gene from 5 species

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	LOC489801¹	--	similar to Williams-Beuren syndrome critical region more	84.04(n) 83.41(a)	489801 XM_546919.2 XP_546919.2
rat (Rattus norvegicus)	Wbscr27¹	--	Williams Beuren syndrome chromosome region 27	80.2(n) 79.21(a)	688407 XM_001066820.1 XP_001066820.1
mouse (Mus musculus)	Wbscr27^{1, 5}	5⁵	Williams Beuren syndrome chromosome region 27 (human)^{1, 5}	80.2(n)¹ 77.23(a)¹	79565¹ NM_024479.2¹ NP_077799.2¹ AA399935⁵ AC079938⁵ (see all 15)
chicken (Gallus gallus)	WBSCR27¹	--	Williams Beuren syndrome chromosome region 27	65.55(n) 59.66(a)	770708 XM_001234037.1 XP_001234038.1
zebrafish (Danio rerio)	zgc:136279¹	--	zgc:136279	52.96(n) 46.7(a)	678636 NM_001040381.1 NP_001035471.1

About this table Species with no ortholog for WBSCR27

ENSEMBL Gene Tree for WBSCR27

(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

10/64 NCBI SNPs in WBSCR27 are shown (see all 64 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 15)

AB	SNP ID	Valid	Chr 7 pos	Sequence	Recs	AA Chg	Type	More	Recs	Allele freq	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--				--
	rs1073909^1,2	A,C,F,H	72896225(-)	`GGACAG/CCTGCA`	1	--	ng3¹		4		EU EA WA	418
	rs4262227^1,2	C,F,H	72896574(+)	`gaataC/Ggacca`	1	--	ng3¹		12		EU EA WA	1256
--	rs11772456^1,2	A,C	72894836(+)	`CTCACC/TGCCTG`	1	--	ng3¹		0	--	--	--	--
--	rs13241921^1,2	F,H	72892748(+)	`GGGCCC/TGGGCC`	1	Q/R	mis¹ ese³		4		EU EA WA	366
--	rs7809965^1,2	A,C	72895837(+)	`taacaG/Tgacaa`	1	--	ng3¹		0	--	--	--	--
--	rs11763367^1,2	A,C	72896023(+)	`tcaaaA/Taaaaa`	1	--	ng3¹		0	--	--	--	--
--	rs10225983^1,2	A,C	72896686(+)	`gtctcA/Gtgtct`	1	--	ng3¹		0	--	--	--	--
--	rs10233171^1,2	C	72894903(+)	`CAGTCC/Tgcccg`	1	--	ng3¹		0	--	--	--	--
--	rs10276377^1,2	C	72894774(+)	`CGCCTC/GGGGCG`	1	--	ut5¹ ese³		0	--	--	--	--
--	rs10233067^1,2	C	72894856(+)	`ATTGGC/TTTTCC`	1	--	ng3¹ tfbs³		0	--	--	--	--

About this table

HapMap Linkage Disequilibrium images for WBSCR27 (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

OMIM: 612546

UniProtKB/Swiss-Prot: WBS27_HUMAN, Q8N6F8

Haploinsufficiency of WBSCR27 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

5 PubMed articles for WBSCR27 gene:

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)
Williams-Beuren syndrome TRIM50 encodes an E3 ubiquitin ligase. (PubMed id 18398435)³ Micale L....Reymond A. (2008)
Identification of nine human-specific frameshift mutations by comparative analysis of the human and the chimpanzee genome sequences. (PubMed id 15961456)³ Hahn Y. and Lee B. (2005)
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)
Hepatitis C virus core protein interacts with 14-3-3 protein and activates the kinase Raf-1. (PubMed id )⁴ Aoki H.... Hino O. (2000)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
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: 155368	HGNC: 19068	AceView: WBSCR27	Ensembl:ENSG00000165171	euGenes: HUgn155368
ECgene: WBSCR27	H-InvDB: WBSCR27

(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

Licensable Technologies for WBSCR27
(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)
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Products for WBSCR27:

TaqMan ® Gene Expression Assays

TaqMan ® Genotyping Assays

Free SNP selection tool

Invitrogen iPath Pathways	Invitrogen BLOCK-iT™ RNAi
Invitrogen Antibodies	Invitrogen Assays
Invitrogen Clones	Invitrogen Q-PCR Products
Invitrogen Human Recombinant Kinases	Invitrogen Custom Antibody and Peptide Service
Invitrogen Proteins / Assays / Screening Services	Search Invitrogen catalog for WBSCR27-related products

	Millipore Custom Antibody & Bulk Services
	Millipore Preclinical / Clinical Development Services
	Millipore Immunoassay Services
	Millipore Target Screening & Profiling Services

	Predesigned and custom siRNAs for WBSCR27		Antibodies for WBSCR27
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WBSCR27 Gene

protein-coding GIFtS: 46

Aliases &
Descriptions
for WBSCR27

Summaries
for WBSCR27

Genomic Location
for WBSCR27

Proteins
for WBSCR27

Protein Domains/
Families
for WBSCR27

Gene Function
for WBSCR27

Pathways & Interactions
for WBSCR27

Drugs & Compounds
for WBSCR27

Transcripts
for WBSCR27

Expression
for WBSCR27

Orthologs
for WBSCR27

Paralogs
for WBSCR27

SNPs/Variants
for WBSCR27

Disorders & Mutations
for WBSCR27

Medical News
for WBSCR27

Publications
for WBSCR27

Search for WBSCR27

Genome Databases showing WBSCR27

Other Databases showing WBSCR27

Specialized Databases showing WBSCR27

Licensable Technologies
for WBSCR27

Services
for WBSCR27

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

WBSCR27 Gene

protein-coding GIFtS: 46

Aliases & Descriptionsfor WBSCR27

Summariesfor WBSCR27

Genomic Locationfor WBSCR27

Proteinsfor WBSCR27

Protein Domains/Familiesfor WBSCR27

Gene Functionfor WBSCR27

Pathways & Interactionsfor WBSCR27

Drugs & Compoundsfor WBSCR27

Transcriptsfor WBSCR27

Expression for WBSCR27

Orthologsfor WBSCR27

Paralogsfor WBSCR27

SNPs/Variantsfor WBSCR27

Disorders & Mutationsfor WBSCR27

Medical Newsfor WBSCR27

Publicationsfor WBSCR27

Search for WBSCR27

Genome Databases showing WBSCR27

Other Databases showing WBSCR27

Specialized Databases showing WBSCR27

Licensable Technologiesfor WBSCR27

Servicesfor WBSCR27

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for WBSCR27

Summaries
for WBSCR27

Genomic Location
for WBSCR27

Proteins
for WBSCR27

Protein Domains/
Families
for WBSCR27

Gene Function
for WBSCR27

Pathways & Interactions
for WBSCR27

Drugs & Compounds
for WBSCR27

Transcripts
for WBSCR27

Expression
for WBSCR27

Orthologs
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Paralogs
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SNPs/Variants
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Medical News
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for WBSCR27

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