Aliases &
Descriptions
for WBSCR16 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase)
About This Section
|
| Aliases & Descriptions |
|---|
| Williams-Beuren syndrome chromosome region 161 2 | | RCC1-like G exchanging factor-like protein2 3 | | DKFZp434D04212 | | MGC1897392 | | MGC449312 | | Williams-Beuren syndrome chromosomal region 16 protein2 |
Export aliases for WBSCR16 gene to outside databasesPrevious GC identifers: GC07P073301 GC07M073839 GC07M073853 GC07M073885 GC07M074094 GC07M074456 |
Summaries
for WBSCR16 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
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)
|
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 60),
Regulatory elements and Epigenetics data according to
Qiagen and/or
SABiosciences)
About This Section
|
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the WBSCR16 gene promoter:
MIF-1 PPAR-gamma2 PPAR-gamma1 RFX1 YY1 NF-YA NF-Y CP1A C/EBPalpha Pbx1a
Other transcription factors
Search SABiosciences Chromatin IP Primers for WBSCR16
Epigenetics:
|  | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays for 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 gene densities for chromosome 7 GeneLoc Exon Structure GeneLoc location for GC07M070125: view genomic region
(about GC identifiers)
Start:
|
70,125,499 bp from pter |
End:
|
70,155,526 bp from pter |
Size:
|
30,028 bases |
Orientation:
|
minus strand |
1 alternative location:
| Chr7- 74,456,291-74,490,064 |
RefSeq DNA sequence:- NC_000007.13 NT_007933.15 NT_079593.2
|
Proteins
for WBSCR16 gene
(According to
1UniProtKB,
neXtProt,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
Millipore,
Sigma-Aldrich,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological, and/or
ProSpec,
Biochemical Assays by
Millipore,
Sigma-Aldrich,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Dec 2010 and
Entrez Gene,
Antibodies by
Millipore,
Sigma-Aldrich,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals, and/or
Epitomics)
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: Q548B1 Q9H0G7Explore the universe of human proteins at neXtProt for WBSCR16: NX_Q96I51
Post-translational modifications:
View phosphorylation sites using PhosphoSite2
REFSEQ proteins: NP_110425.1
ENSEMBL proteins: ENSP00000407250 ENSP00000333799
Human Recombinant Proteins
2 Gene Ontology (GO) cellular component terms (GO ID links to tree view): | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005575 | cellular_component |
ND | -- | | GO:0005739 | mitochondrion |
IEA | -- |
About this table
WBSCR16 for ontologies About GeneDecksing
Antibodies for WBSCR16:
Assays 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 |
Gene Function
for WBSCR16 gene
(According to UniProtKB,
IUBMB,and/or
Genatlas, Animal models from MGI Dec 24 2010,
shRNA from
OriGene,
Sigma-Aldrich,
RNAi from
Millipore,
siRNAs from
Sigma-Aldrich,
OriGene,
Qiagen,
Super-pooled esiRNAs from Sigma-Aldrich,
microRNA from Sigma-Aldrich,
Qiagen,
SABiosciences,
Clones from Millipore,
Sigma-Aldrich,
OriGene,
GenScript,
Sino Biological,
Cell Lines from GenScript,
Ontologies according to Gene Ontology Consortium 01 Dec 2010 via
Entrez Gene.)
About This Section
|
|
Pathways & Interactions
for WBSCR16 gene
(Pathways according to
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
PCR Arrays from
SABiosciences,
Proteins Network according to
SABiosciences,
Sigma-Aldrich,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Dec 2010 via
Entrez Gene).
About This Section
|
SABiosciences Custom Pathway-Focused PCR Arrays for WBSCR16
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for WBSCR16
5/234 Interacting proteins for WBSCR16 (Q96I512) via UniProtKB, MINT, and/or STRING (see all 234)About this table
1 Gene Ontology (GO) biological process term (GO ID links to tree view): | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0008150 | biological_process |
ND | -- |
About this table
WBSCR16 for ontologies About GeneDecksing
|
Drugs & Compounds
for WBSCR16 gene(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 WBSCR16
|
Transcripts
for WBSCR16 gene(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 228 Homo sapiens; Dec 8 2010) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
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
Millipore,
siRNAs from
Sigma-Aldrich,
OriGene,
Qiagen,
Super-pooled esiRNAs from Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
microRNA from Sigma-Aldrich,
Qiagen,
SABiosciences,
Tagged/untagged cDNA clones from
OriGene,
Sigma-Aldrich,
GenScript,
Primers from
OriGene and/or
SABiosciences)
About This Section
|
REFSEQ mRNAs for WBSCR16 gene: NM_030798.3 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.97811175 DT.95142649 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): BQ441718 BM551815 BC007823 CA427790 BP430822 BU632322 AW515754 AI205322 BC019008 NM_030798 BX355257 BM550670 AI701939 BQ933719 BG106763 BX114147 AI913182 CD673006 BE378938 AA828240 CD671424 H17128 BM803130 AK123110
 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.723684 [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
4 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000455375 ENST00000478352(uc010lcb.1) ENST00000329959(uc010lca.2 uc003ubr.2)
ENST00000467007
|
Expression
for WBSCR16 gene
(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 228 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Primers from
OriGene and/or
SABiosciences
)
About This Section
| WBSCR16 expression in normal and diseased human tissues
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 |
| 89601_at2, 3
|
U95-E |
1 |
1.00 |
1.00 |
0.72 |
1.10 |
AI333691 |
0.20 |
0.50 |
0.38 |
1 |
| 80618_s_at2, 3
|
U95-E |
1 |
0.94 |
1.00 |
0.82 |
1.15 |
AW016934 |
0.40 |
1.00 |
0.76 |
1 |
| 52596_f_at2, 3
|
U95-B |
1 |
0.94 |
1.00 |
0.86 |
1.04 |
R52511 |
0.80 |
1.00 |
0.91 |
1 |
| 65894_at2, 3
|
U95-C |
1 |
0.88 |
1.00 |
0.97 |
1.25 |
AA411243 |
0.40 |
0.67 |
0.55 |
1 |
| 68321_at2, 3
|
U95-E |
1 |
0.50 |
1.00 |
0.31 |
0.47 |
AA828240 |
0.40 |
1.00 |
0.76 |
1 |
| 221247_s_at2, 3
|
U133-A |
1 |
0.82 |
1.00 |
-- |
-- |
NM_030798 |
0.60 |
1.00 |
0.82 |
1 |
| 238132_at2, 3
|
U133-B |
1 |
0.36 |
1.00 |
-- |
-- |
BF508860 |
0.20 |
1.00 |
0.72 |
1 |
| 1554410_a_at2
|
U133Plus2 |
2 |
1.00 |
0.64 |
-- |
-- |
-- |
-- |
-- |
-- |
-- |
| 221247_s_at2
|
U133Plus2 |
1 |
0.82 |
1.00 |
-- |
-- |
-- |
-- |
-- |
-- |
-- |
| 238132_at2
|
U133Plus2 |
1 |
0.36 |
1.00 |
-- |
-- |
-- |
-- |
-- |
-- |
-- |
| 1554409_at2
|
U133Plus2 |
1 |
0.27 |
1.00 |
-- |
-- |
-- |
-- |
-- |
-- |
-- |
About this table
WBSCR16 for expression About GeneDecksing
Data from
Genenote
(Publications) and GNF BioGPS
About these images
About these images
CGAP SAGE TAG: --
SOURCE GeneReport for Unigene cluster: Hs.723684
UniProtKB/Swiss-Prot: WBS16_HUMAN, Q96I51Tissue specificity: Ubiquitous
SABiosciences Custom PCR Arrays for WBSCR16
|
Orthologs
for WBSCR16 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Dec 24 2010,
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)
About this table Species with no ortholog for WBSCR16
ENSEMBL Gene Tree for WBSCR16 (if available) |
Paralogs
for WBSCR16 gene(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
About This Section
| Paralogs for WBSCR16 gene
- SERGEF2 HERC12 RCBTB22 HERC2P92 ENSG000002236812 HERC22 HECTD32 RCBTB12
WBSCR16 for paralogs About GeneDecksing
|
Genomic Variants
for WBSCR16 gene(SNPs according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Resequencing Primers from Qiagen)
About This Section
|
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 3 variations for WBSCR16
3 CNVs: 3686 64862 31363 | | QIAGEN SeqTarget long-range PCR primers for resequencing WBSCR16 |
|
Disorders & Mutations
for WBSCR16 gene
(in which this Gene is Involved, According to
OMIM, UniProtKB,
PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
LSDB, HGMD, 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 diseaseExport disorders and mutations for WBSCR16 gene to outside databases
|
Medical News
for WBSCR16 gene(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications
for WBSCR16 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6UniProtKB/TrEMBL, and/or
7Novoseek)
About This Section
|
7 PubMed articles for WBSCR16 gene integrated from 7 sources:
(articles sorted by number of sources associating them with WBSCR16)- 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)
- The LIFEdb database in 2006. (PubMed id 16381901)1 Mehrle A....Wiemann S. (2006)
- From ORFeome to biology: a functional genomics pipeline. (PubMed id 15489336)1 Wiemann S....Poustka A. (2004)
- Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
- DNA cloning using in vitro site-specific recombination. (PubMed id 11076863)1 Hartley J.L....Brasch M.A. (2000)
|
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 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
| 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 by Millipore, Sigma-Aldrich, R&D Systems, Qiagen, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Epitomics, ProSpec, Uscn,
Clones available from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, PCR Arrays from SABiosciences, Drugs and/or compounds by Sigma-Aldrich, Tocris Bioscience, and/or
Enzo Life Sciences)
About This Section
|
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| |  | Search Tocris compounds for WBSCR16 |
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