WBSCR16 Gene
protein-coding GIFtS: 46
GCID: GC07M074456
|
|
Williams-Beuren syndrome chromosome region 16
| |
Aliases
for WBSCR16 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 161 2 | | RCC1-Like G Exchanging Factor-Like Protein2 3 | | Williams-Beuren Syndrome Chromosomal Region 16 Protein2 |
Export aliases for WBSCR16 gene to outside databasesPrevious GC identifers: GC07P073301 GC07M073839 GC07M073853 GC07M073885 GC07M074094 GC07M070125 |
Summaries
for WBSCR16 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for WBSCR16:
This gene encodes an RCC1-like G-exchanging factor. It is deleted in Williams syndrome, a multisystem developmentaldisorder caused by the deletion of contiguous genes at 7q11.23. (provided by RefSeq, Jul 2008)
|
Genomic Views
for WBSCR16 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 WBSCR16 gene promoter:
Sox5 NRSF form 1 AP-4 NRSF form 2 C/EBPalpha CHOP-10 MZF-1 NF-Y CBF(2)
Other transcription factors
Search SABiosciences Chromatin IP Primers for WBSCR16
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat WBSCR16 |
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: 7q11.23WBSCR16 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 7 GeneLoc Exon Structure GeneLoc location for GC07M074456: view genomic region
(about GC identifiers)
Start:
|
74,441,226 bp from pter |
End:
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74,490,064 bp from pter |
Size:
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48,839 bases |
Orientation:
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minus strand |
1 alternative location:
| Chr7-,CRA_TCAG 73,789,347-73,822,763 |
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Proteins
for WBSCR16 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: WBS16_HUMAN, Q96I51 (See
protein sequence)Recommended Name: Williams-Beuren syndrome chromosomal region 16 protein Size: 464 amino acids; 49997 Da
Secondary accessions: D3DXK0 Q548B1 Q9H0G7Explore the universe of human proteins at neXtProt for WBSCR16: NX_Q96I51
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q96I51
WBSCR16 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_110425.1
ENSEMBL proteins: ENSP00000333799 ENSP00000407250 ENSP00000437702 ENSP00000441127
Human Recombinant Protein Products:
Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005575 | cellular_component |
ND | -- | | GO:0005739 | mitochondrion |
IEA | -- |
WBSCR16 for ontologies About GeneDecksing
WBSCR16 Antibody Products:
Assay Products for WBSCR16: |
Protein
Domains /
Families
for WBSCR16 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
WBSCR16 for domains About GeneDecksing
2 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q96I51ProtoNet protein and cluster: Q96I51 1 Blocks protein family: IPB000408 Regulator of chromosome condensation
UniProtKB/Swiss-Prot: WBS16_HUMAN, Q96I51Similarity: Contains 6 RCC1 repeats |
Function
for WBSCR16 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
|
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for WBSCR16 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for WBSCR16
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: WBSCR16 (NM_030798) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
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In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for WBSCR16 |
|
Pathways & Interactions
for WBSCR16 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 WBSCR16
STRING Interaction
Network Preview (showing 5 interactants - click image to see 6)
5/234 Interacting proteins for WBSCR16 (Q96I512, 3 ENSP000003337994) via UniProtKB, MINT, STRING, and/or I2D (see all 234)About this table
Gene Ontology (GO): 1 biological process term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0008150 | biological_process |
ND | -- |
WBSCR16 for ontologies About GeneDecksing
|
Drugs & Compounds
for WBSCR16 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 Tocris compounds for WBSCR16
Search CenterWatch for drugs/clinical trials and news about WBSCR16 / WBS16
|
Transcripts
for WBSCR16 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,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
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 WBSCR16 gene: NM_030798.3 Unigene Cluster for WBSCR16: Williams-Beuren syndrome chromosome region 16 Hs.723684 [show with all ESTs]Unigene Representative Sequence: NM_0307986 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000329959(uc010lca.3 uc003ubr.3) ENST00000467007 ENST00000478352(uc010lcb.1)
ENST00000455375 ENST00000503250 ENST00000543840
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for WBSCR16 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for WBSCR16
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: WBSCR16 (NM_030798) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for WBSCR16 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat WBSCR16 |
Additional cDNA sequence: AF410455.1 AK057870.1 AK309117.1 AL136804.1 BC007823.2 BC019008.2 BC032712.1 BC040695.1 BC157844.1 24/36 DOTS entries (see all 36): DT.446405 DT.100706758 DT.102839870 DT.95142649 DT.97811175 DT.95142640 DT.121117050 DT.121643848 DT.121116706 DT.97791291 DT.92442978 DT.100773359 DT.100774964 DT.100030775 DT.121116990 DT.121117138 DT.95142645 DT.97802582 DT.109712 DT.92442982 DT.95142644 DT.100716404 DT.428902 DT.100698697 24/388 AceView cDNA sequences (see all 388): BV176987 BU931503 BX355257 BM672135 AI379213 CD672812 AK123110 F09210 BI962596 BU608408 BQ054774 BC007823 BQ672925 BQ063884 AI989643 BM803130 BU526567 AW593726 CK821195 CA427790 BQ669245 BQ441718 BM824532 AW515754
GeneLoc Exon Structure
5/7 Alternative Splicing Database (ASD) splice patterns (SP) for WBSCR16 (see all 7) About this scheme
| 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: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | - | | | | | | | | | | | |
ECgene alternative splicing isoforms for WBSCR16
|
Expression
for WBSCR16 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
| WBSCR16 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --
About this image
See WBSCR16 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for WBSCR16
SOURCE GeneReport for Unigene cluster: Hs.723684
UniProtKB/Swiss-Prot: WBS16_HUMAN, Q96I51Tissue specificity: Ubiquitous
SABiosciences Custom PCR Arrays for WBSCR16
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for WBSCR16
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat WBSCR16 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat WBSCR16 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat WBSCR16 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for WBSCR16 |
Orthologs
for WBSCR16 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 eukaryotes.
Orthologs for WBSCR16 gene from 8/24 species (see all 24) About this table
ENSEMBL Gene Tree for WBSCR16 (if available)
TreeFam Gene Tree for WBSCR16 (if available) |
Paralogs
for WBSCR16 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for WBSCR16 gene
- SERGEF2 RCBTB22 IBTK2 RCBTB12
2 SIMAP similar genes for WBSCR16 using alignment to 6 protein entries: WBS16_HUMAN (see all proteins):HERC3 HERC6
WBSCR16 for paralogs About GeneDecksing
1 Pseudogenes.org Pseudogene for WBSCR16
PGOHUM00000260367
|
Genomic Variants
for WBSCR16 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
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 7 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for WBSCR16 (74441226 - 74490064 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 3 variations for WBSCR16
3 CNVs: 3686 64862 31363 | SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing WBSCR16 |
|
Disorders
/ Diseases
for WBSCR16 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
|
WBSCR16 for disorders About GeneDecksing
UniProtKB/Swiss-Prot: WBS16_HUMAN, Q96I51
Note=WBSCR16 is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygousdeletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over betweenhighly homologous low-copy repeat sequences flanking the deleted region. Haploinsufficiency of WBSCR16 may be thecause of certain cardiovascular and musculo-skeletal abnormalities observed in the disease
2  diseases for WBSCR16: About MalaCardswilliams-beuren syndrome williams syndrome
1 disease from the University of Copenhagen DISEASES database for WBSCR16:Williams-Beuren syndrome Export disorders for WBSCR16 gene to outside databases
|
Publications
for WBSCR16 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 WBSCR16 gene, integrated from 9 sources (see all 14):
(articles sorted by number of sources associating them with WBSCR16) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Identification of additional transcripts in the Williams-Beuren syndrome critical region. (PubMed id 12073013)1, 2, 3 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)1, 2 Gerhard D.S....Malek J. (2004)
- Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PubMed id 11230166)1, 2 Wiemann S.... Poustka A. (2001)
- A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
- Charting the landscape of tandem BRCT domain-mediated protein interactions. (PubMed id 22990118)1 Woods N.T....Monteiro A.N. (2012)
- Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
- Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
- Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
- A functional peptidyl-tRNA hydrolase, ICT1, has been recruited into the human mitochondrial ribosome. (PubMed id 20186120)1 Richter R....Chrzanowska-Lightowlers Z.M. (2010)
- Protein interaction data set highlighted with human Ras-MAPK/PI3K signaling pathways. (PubMed id 18624398)1 Wang J....He F. (2008)
|
External Searches for WBSCR16 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing WBSCR16 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing WBSCR16 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing WBSCR16 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
|
| Name | Description |
| PharmGKB entry for WBSCR16 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for WBSCR16 gene:
Search GeneIP for patents involving WBSCR16
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for WBSCR16 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
 | |
 |
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