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Aliases & Descriptions for WBSCR16
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase) About This Section
|
| Aliases |
|---|
| DKFZp434D0421 2 | | MGC189739 2 | | MGC44931 2 |
| | | Descriptions |
|---|
| RCC1-like G exchanging factor-like 2 | | RCC1-like G exchanging factor-like protein 3 | | Williams-Beuren syndrome chromosome region 16 2 |
|
| | Search outside databases for aliases for WBSCR16 genePrevious GC identifers: GC07P073301 GC07M073839 GC07M073853 GC07M073885 |
Summaries for WBSCR16(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| EntrezGene summary for WBSCR16: This gene encodes an RCC1-like G-exchanging factor. It is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. [provided by RefSeq]
|
Genomic Location for WBSCR16
(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 WBSCR16 gene 
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 GC07M074094:
(about GC identifiers)
Start:
|
74,094,219 bp from pter |
End:
|
74,127,635 bp from pter |
Size:
|
33,417 bases |
Orientation:
|
minus strand |
1 alternative location:
| Chr7-,CRA_TCAG 73,789,347-73,822,763 |
RefSeq DNA sequence:- NC_000007.12 NT_007758.11 NT_079593.2
| Proteins for WBSCR16
(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: WBS16_HUMAN, Q96I51 (See
protein sequence)Recommended Name: Williams-Beuren syndrome chromosomal region 16 protein Size: 464 amino acids; 49997 Da
Secondary accessions: Q548B1 Q9H0G7REFSEQ proteins: NP_110425.1
ENSEMBL proteins: ENSP00000333799
Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 
1 Gene Ontology (GO) cellular component term (links to tree view): | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005575 | cellular_component |
ND | -- | About this table
Antibodies for WBSCR16: Assays for WBSCR16: | Protein
Domains/ Families for WBSCR16(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 Q96I51
ProtoNet 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
(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 vectors (see all 2): NM_030798
Applied Biosystems Silencer® siRNAs for WBSCR16
Sigma-Aldrich siRNA for WBSCR16  Sigma-Aldrich shRNA for WBSCR16  Explore Sigma-Aldrich super-pooled esiRNAs 
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_030798                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_030798                                  untagged cDNA clones in CMV expression vector (see all 2): AK095583 
Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_030798
| Pathways & Interactions for WBSCR16
(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
|
5/7 Interacting proteins for WBSCR16 (ENSP000003337993) via UniProtKB, MINT, and/or STRING (see all 7
)About this table
1 Gene Ontology (GO) biological process term (links to tree view): | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0008150 | biological_process |
ND | -- | About this table
|
Drugs & Compounds for WBSCR16(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(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 vectors (see all 2): NM_030798
Sigma-Aldrich siRNA for WBSCR16  Sigma-Aldrich shRNA for WBSCR16  Explore Sigma-Aldrich super-pooled esiRNAs 
Applied Biosystems Silencer® siRNAs: NM_030798 REFSEQ mRNAs for WBSCR16 gene: NM_030798.3
Applied Biosystems TaqMan ® Gene Expression Assays: NM_030798               OriGene GFP tagged cDNA clone in CMV expression vector: NM_030798                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_030798                                  untagged cDNA clones in CMV expression vector (see all 2): AK095583  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.95142649 DT.97811175 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
):CK821196 C21173 CR595395 AA828240 F09210 BQ670244 AF410455 F11550 AA295219 BQ441718 BM803130 AI379213 F09799 BF811400 BE551122 CA427790 CK821195 BM670527 CD672812 H17128 BI962596 BI789128 AW016934 AI205322
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.716393 [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
1 Ensembl transcript including schematic representation: ENST00000329959
|
Expression for WBSCR16
(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
| WBSCR16 expression in normal and diseased human tissues
Applied Biosystems TaqMan ® Gene Expression Assays for WBSCR16
1 / 2 / 3 11 probe-sets matching WBSCR16 gene Data from
(Publications) and GNF BioGPS About these images About these images
CGAP SAGE TAG: --
SOURCE GeneReport for Unigene cluster: Hs.716393 UniProtKB/Swiss-Prot: WBS16_HUMAN, Q96I51Tissue specificity: Ubiquitous |
Orthologs for WBSCR16
(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 WBSCR16 gene from 5/13 species (see all 13
)
About this table Species with no ortholog for WBSCR16
ENSEMBL Gene Tree for WBSCR16 | Paralogs for WBSCR16(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| Paralogs for WBSCR16 gene
- RCC22 SNHG3-RCC12 RPGR2
|
SNPs/Variants for WBSCR16(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 WBSCR16 (up to first 250kb)
|
Disorders & Mutations for WBSCR16
(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: WBS16_HUMAN, Q96I51
Haploinsufficiency of WBSCR16 may be the cause of certain cardiovascular and musculo-skeletal abnormalities observed in Williams-Beuren syndrome (WBS) [MIM:194050]; a rare developmental disorder. It is a contiguous gene deletion syndrome involving genes from chromosome band 7q11.23 |
Medical News for WBSCR16(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications for WBSCR16 (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
| 7 PubMed articles for WBSCR16 gene: |
Search for WBSCR16
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing WBSCR16
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing WBSCR16
(According to HUGE)
About This Section
| -- |
Specialized Databases showing WBSCR16(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 WBSCR16(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 WBSCR16:

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| | | | Search Tocris compounds for WBSCR16 |
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Incremental update: 13 Oct 2009
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