VWA3B Gene
protein-coding GIFtS: 39
GCID: GC02P098703
|
|
von Willebrand factor A domain containing 3B
| |
Aliases for VWA3B gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb) About This Section
|
| Aliases |
|---|
| Von Willebrand Factor A Domain Containing 3B1 2 | | DKFZp686F22271 | | MGC267331 | | Von Willebrand Factor A Domain-Containing Protein 3B2 |
Export aliases for VWA3B gene to outside databasesPrevious GC identifers: GC02P098070 GC02P092468 |
Summaries for VWA3B gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| -- |
Genomic Views for VWA3B 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_000002.11 NC_018913.1 NT_022171.15
Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the VWA3B gene promoter: HFH-3 AML1a NF-YA FOXI1 CBF-A CBF-B FOXO4 CP1A NF-Y CBF(2) Other transcription factors
Search SABiosciences Chromatin IP Primers for VWA3B
Epigenetics:
|  | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat VWA3B |
Genomic Location: Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 2q11.2 Ensembl cytogenetic band: 2q11.2 HGNC cytogenetic band: 2q11.2VWA3B Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)

GeneLoc information about chromosome 2 GeneLoc Exon Structure GeneLoc location for GC02P098703: view genomic region
(about GC identifiers)
Start:
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98,703,579 bp from pter |
End:
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98,929,762 bp from pter |
Size:
|
226,184 bases |
Orientation:
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plus strand |
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Proteins for VWA3B 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: VWA3B_HUMAN, Q502W6 (See
protein sequence)Recommended Name: von Willebrand factor A domain-containing protein 3B Size: 1294 amino acids; 145748 Da
Sequence caution: Sequence=BAC04047.1; Type=Erroneous initiation; Note=Translation N-terminally extended;Sequence=CAD89964.1; Type=Frameshift; Positions=1071, 1087, 1110, 1147, 1153, 1195, 1207;
Secondary accessions: B9EK71 Q86T73 Q8N2D0 Q8N770 Q8NA79 Q8ND63 Q8ND65 Q8WW02Alternative splicing: 8 isoforms: Q502W6-1 Q502W6-2 Q502W6-3 Q502W6-4 Q502W6-5 Q502W6-6 Q502W6-7 Q502W6-8 (Ref.2 (CAD89964) sequence differs from that shown due to a frameshift in position 1058)Explore the universe of human proteins at neXtProt for VWA3B: NX_Q502W6
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q502W6 VWA3B Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_659429.4 ENSEMBL proteins: ENSP00000396734 ENSP00000388158 ENSP00000396866 ENSP00000417955 ENSP00000391241 ENSP00000411168 ENSP00000437247 ENSP00000432446 ENSP00000436153 ENSP00000434226 ENSP00000401959 ENSP00000389463 Human Recombinant Protein Products:
VWA3B Antibody Products: Assay Products for VWA3B: |
Protein
Domains / Families for VWA3B gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
VWA3B for domains About GeneDecksing
1 InterPro domain/family:Graphical View of Domain Structure for InterPro Entry Q502W6ProtoNet protein and cluster: Q502W6 UniProtKB/Swiss-Prot: VWA3B_HUMAN, Q502W6Similarity: Contains 1 VWFA domain |
Function for VWA3B 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 VWA3B OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for VWA3B (see all 2) OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: VWA3B (NM_144992) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for VWA3B | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat VWA3B  |
In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for VWA3B |
|
Pathways & Interactions for VWA3B 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 VWA3B
|
Drugs & Compounds for VWA3B 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 VWA3B Search CenterWatch for drugs/clinical trials and news about VWA3B 
|
Transcripts for VWA3B 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 VWA3B gene: NM_144992.4 Unigene Cluster for VWA3B: Von Willebrand factor A domain containing 3B Hs.269977 [show with all ESTs]Unigene Representative Sequence: AL83276118/22 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 22): ENST00000432242(uc002syn.1 uc002syp.1 uc002syo.3) ENST00000433678(uc010yvh.2 uc002syj.3) ENST00000448079 ENST00000448638(uc002syl.1) ENST00000409460(uc002sym.3) ENST00000477737(uc010yvi.1) ENST00000484571 ENST00000483669 ENST00000422503 ENST00000416277(uc002syk.1) ENST00000463635 ENST00000465930 ENST00000489968 ENST00000466852 ENST00000495571(uc002syq.1 uc002sys.3) ENST00000489630(uc010fih.1) ENST00000473149(uc002syr.1) ENST00000485216
Clone Products: |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for VWA3B OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for VWA3B (see all 2) OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: VWA3B (NM_144992) | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for VWA3B | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat VWA3B  |
Additional cDNA sequence: AK057248.1 AK090786.1 AK093084.1 AK098841.1 AK292397.1 AK295743.1 AK302390.1 AL832635.2 AL832761.1 AL834173.1 AL834385.1 BC022028.2 BC026091.2 BC095480.1 BC150653.1 EF491791.1 EF491813.1 11 DOTS entries: DT.40121948 DT.100718635 DT.91810685 DT.100023306 DT.100023307 DT.91649942 DT.97822393 DT.100023311 DT.99931300 DT.121019609 DT.95267374 24/39 AceView cDNA sequences (see all 39): AA885064 AK057248 AK098841 BM981856 AL834385 BC026091 BI826050 BM563224 BG771601 BI463698 AX746614 BM553041 BX102615 BX641313 BG717868 BX114637 AW151158 AI218609 AL834173 AX747910 AA609861 CD557502 AL832761 BI831861 GeneLoc Exon Structure
5 Alternative Splicing Database (ASD) splice patterns (SP) for VWA3B About this scheme
| ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5 | ^ | 6a | · | 6b | ^ | 7a | · | 7b | · | 7c | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13a | · | 13b | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19 | ^ | 20 | ^ | 21 | ^ | |
| SP1: | |   | |   | |   | - |   | |   | |   | - |   | |   | - |   | |   | - |   | |   | |   | - |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP2: | |   | |   | |   | |   | |   | |   | - |   | |   | - |   | |   | - |   | |   | |   | |   | |   | |   | |   | |   | - |   | |   | |   | |   | |   | |   | |   | |   | |
| SP3: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | - |   | |   | |   | |   | |   | |   | |   | |   | |
| SP4: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | - |   | |   | - |   | |   | |   | |   | |   | |   | |
| SP5: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   |
| ExUns: | 22 | ^ | 23 | ^ | 24 | ^ | 25 | ^ | 26 | ^ | 27 | ^ | 28 | ^ | 29a | · | 29b | |
| SP1: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP2: | |   | - |   | |   | |   | |   | |   | |   | |   | |   | |
| SP3: | |   | - |   | |   | |   | |   | |   | |   | |   | |   | |
| SP4: | |   | - |   | |   | |   | |   | |   | |   | |   | |   | |
| SP5: | |   | |   | |   | |   | |   | |   | |   | |   | |   |
ECgene alternative splicing isoforms for VWA3B
|
Expression for VWA3B 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
| VWA3B expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this imageBioGPS CGAP TAG: --
About this image See VWA3B Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for VWA3B
SOURCE GeneReport for Unigene cluster: Hs.269977 SABiosciences Custom PCR Arrays for VWA3B
Primer Products: |  | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for VWA3B Browse OriGene validated miRNA SYBR primer pairs
| |  | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat VWA3B | |  | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat VWA3B | |  | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat VWA3B | In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for VWA3B |
Orthologs for VWA3B 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 chordates.
Orthologs for VWA3B gene from 2/13 species (see all 13) About this table
| Organism |
Taxonomic classification |
Gene |
Description |
Human Similarity |
Orthology Type |
Details |
chicken (Gallus gallus) |
Aves |
VWA3B1 |
von Willebrand factor A domain containing 3B |
64.39(n) 56.19(a) |
  |
418688 XM_003640532.1 XP_003640580.1 |
lizard (Anolis carolinensis) |
Reptilia |
VWA3B6 |
-- |
49(a) |
1 ↔ 1 |
3(109457658-109523639) |
ENSEMBL Gene Tree for VWA3B (if available) TreeFam Gene Tree for VWA3B (if available)  |
Paralogs for VWA3B gene(Paralogs according to
1HomoloGene, 2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68) About This Section
| Paralogs for VWA3B gene
- VWA3A2
2 SIMAP similar genes for VWA3B using alignment to 10 protein entries: VWA3B_HUMAN (see all proteins):MGC26733 VWA3A
VWA3B for paralogs About GeneDecksing
|
Genomic Variants for VWA3B 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 2 pos | Sequence | # | AA Chg | Type | More | # | Allele freq | Pop | Total sample | More |
|---|
HapMap Linkage Disequilibrium report for VWA3B (98703579 - 98929762 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV): 8 variations for VWA3B 6 CNVs: 9959 68093 50606 89830 1592 1033 2 Indels: 60311 33692  | SABiosciences Cancer Mutation PCR Assays |
|  | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing VWA3B |
|
Disorders
/ Diseases for VWA3B 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
|
VWA3B for disorders About MalaCards
VWA3B for disorders About GeneDecksing
Human Genome Epidemiology (HuGE) Navigator: VWA3B (1 document) Export disorders for VWA3B gene to outside databases
|
Publications for VWA3B 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 VWA3B gene integrated from 9 sources: (articles sorted by number of sources associating them with VWA3B) | |  | Utopia: connect your pdf to the dynamic world of online information |
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
- Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (2002)
- Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
- The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (2007)
- Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
- Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)2 Hillier L.W....Wilson R.K. (2005)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
|
External Searches for VWA3B gene
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing VWA3B gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing VWA3B gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing VWA3B 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 VWA3B | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for VWA3B gene: Search GeneIP for patents involving VWA3B
GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products for VWA3B 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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| | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat VWA3B | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing VWA3B | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat VWA3B | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat VWA3B | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat VWA3B | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat VWA3B |
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 |
 | | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for VWA3B |
|  |  |  | | | ThermoFisher Antibodies for VWA3B |
| | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat VWA3B |
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