VWA2 Gene
protein-coding GIFtS: 39
GCID: GC10P115990
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|
von Willebrand factor A domain containing 2
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Aliases
for VWA2 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 21 2 | | Colon Cancer Secreted Protein 22 3 | | AMACO1 2 3 | | FLJ162131 | | CCSP-21 2 3 | | FLJ458571 | | NET421 2 | | Colon Cancer Diagnostic Marker2 | | A Domain-Containing Protein Similar To Matrilin And Collagen2 3 | | Von Willebrand Factor A Domain-Containing Protein 22 |
Export aliases for VWA2 gene to outside databasesPrevious GC identifer: GC10P109626 |
Summaries
for VWA2 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 VWA2:
This gene encodes a member of the von Willebrand factor A-like domain protein superfamily. The encoded protein islocalized to the extracellular matrix and may serve as a structural component in basement membranes or in anchoringstructures on scaffolds of collagen VII or fibrillin. This gene has been linked to type 1A diabetes and is a candidateserological marker for colon cancer. (provided by RefSeq, Jan 2013)
Gene Wiki entry for VWA2
|
Genomic Views
for VWA2 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_000010.10 NC_018921.1 NT_030059.13
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the VWA2 gene promoter:
HFH-3 TBP C/EBPbeta Lmo2 FOXD3 FOXI1 AREB6 SRY FOXC1 Msx-1
Other transcription factors
Search SABiosciences Chromatin IP Primers for VWA2
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat VWA2 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 10q25.3 Ensembl cytogenetic band: 10q25.3 HGNC cytogenetic band: 10q25.3VWA2 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 10 GeneLoc Exon Structure GeneLoc location for GC10P115990: view genomic region
(about GC identifiers)
Start:
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115,999,018 bp from pter |
End:
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116,051,272 bp from pter |
Size:
|
52,255 bases |
Orientation:
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plus strand |
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Proteins
for VWA2 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: VWA2_HUMAN, Q5GFL6 (See
protein sequence)Recommended Name: von Willebrand factor A domain-containing protein 2 precursor Size: 755 amino acids; 82012 Da
Subunit: Forms monomers and multimers (By similarity)
Subcellular location: Secreted
Miscellaneous: May be used as a serological marker for colon neoplasia
Secondary accessions: A1A5D4 B5MDJ8 Q6ZS39 Q6ZWJ7 Q708C5 Q70UZ8Alternative splicing: 3 isoforms: Q5GFL6-1 Q5GFL6-2 Q5GFL6-3 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for VWA2: NX_Q5GFL6
Post-translational modifications:
A 55 kDa form is produced by proteolytic cleavage1
View neXtProt modification sites for NX_Q5GFL6
VWA2 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (2 alternative transcripts):
NP_001258975.1 NP_940898.1
ENSEMBL proteins: ENSP00000376708 ENSP00000298715
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:0005576 | extracellular region |
-- | -- | | GO:0005604 | basement membrane |
IEA | -- |
VWA2 for ontologies About GeneDecksing
VWA2 Antibody Products:
Assay Products for VWA2: |
Protein
Domains /
Families
for VWA2 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
VWA2 for domains About GeneDecksing
3 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q5GFL6ProtoNet protein and cluster: Q5GFL6 UniProtKB/Swiss-Prot: VWA2_HUMAN, Q5GFL6Similarity: Contains 2 EGF-like domainsSimilarity: Contains 3 VWFA domains |
Function
for VWA2 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 VWA2 (see all 2)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for VWA2
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
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In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for VWA2 |
Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0042802 | identical protein binding |
IEA | -- |
VWA2 for ontologies About GeneDecksing
|
Pathways & Interactions
for VWA2 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 VWA2
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:0007161 | calcium-independent cell-matrix adhesion |
IEA | -- |
VWA2 for ontologies About GeneDecksing
|
Drugs & Compounds
for VWA2 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 VWA2
Search CenterWatch for drugs/clinical trials and news about VWA2
|
Transcripts
for VWA2 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 VWA2 gene (2 alternative transcripts): NM_001272046.1 NM_198496.1 Unigene Cluster for VWA2: Von Willebrand factor A domain containing 2 Hs.197741 [show with all ESTs]Unigene Representative Sequence: AY5729722 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000392982(uc001lbl.1) ENST00000298715(uc001lbk.1 uc009xyf.1)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for VWA2 (see all 2)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for VWA2
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: VWA2 (NM_198496) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for VWA2 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat VWA2 |
Additional cDNA sequence: AJ536328.2 AJ616914.1 AK122716.1 AK127756.1 AY572972.1 BC128588.1 BC128589.1 BC143380.1 4 DOTS entries: DT.75140981 DT.101980447 DT.40229862 DT.101964591 8 AceView cDNA sequences: AW206492 BX956774 AJ536328 NM_198496 AK127756 AJ616914 AK122716 AW855319
GeneLoc Exon Structure
|
Expression
for VWA2 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
| VWA2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CTCACATAAA
About this image
See VWA2 Protein Expression from SPIRE MOPED and PaxDB
SOURCE GeneReport for Unigene cluster: Hs.197741
UniProtKB/Swiss-Prot: VWA2_HUMAN, Q5GFL6Tissue specificity: Expression is generally absent in normal colon and other normal body tissues, but it is induced anaverage of 78-fold in Stage II, III, and IV colon cancers, as well as in colon adenomas and colon cancer cell lines
SABiosciences Custom PCR Arrays for VWA2
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for VWA2
Browse OriGene validated miRNA SYBR primer pairs
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Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for VWA2 |
Orthologs
for VWA2 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 VWA2 gene from 5/12 species (see all 12) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
mouse
(Mus musculus) |
Mammalia |
Vwa21 , 5 |
von Willebrand factor A domain containing 21, 5 |
81.56(n)1
80.43(a)1 |
|
19 (52.02 cM)5
2406751 NM_172840.21 NP_766428.21
568742495 |
chicken
(Gallus gallus) |
Aves |
VWA21 |
von Willebrand factor A domain containing 2 |
65.15(n)
60.06(a) |
|
423907 XM_421769.3 XP_421769.3 |
lizard
(Anolis carolinensis) |
Reptilia |
VWA26 |
-- |
54(a) |
1 ↔ 1 |
GL343204.1(12130-52226) |
African clawed frog
(Xenopus laevis) |
Amphibia |
Xl.15642 |
Xenopus laevis transcribed sequence with weak similarity more |
72.62(n) |
|
CF285997.1 |
zebrafish
(Danio rerio) |
Actinopterygii |
vwa21 |
von Willebrand factor A domain containing 2 |
58.89(n)
50.29(a) |
|
567428 XM_690723.4 XP_695815.4 |
ENSEMBL Gene Tree for VWA2 (if available)
TreeFam Gene Tree for VWA2 (if available) |
Paralogs
for VWA2 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for VWA2 gene
- VWA12 MATN42 COL14A12 COL9A12 MATN32 MATN22 COL12A12 VIT2
- COL9A32 COCH2 COL9A22 COL20A12 MATN12 COL21A12
2 SIMAP similar genes for VWA2 using alignment to 1 protein entry: VWA2_HUMAN:F9 COL21A1
VWA2 for paralogs About GeneDecksing
|
Genomic Variants
for VWA2 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 10 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for VWA2 (115999018 - 116051272 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for VWA2
1 Indel: 101047 | SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing VWA2 |
|
Disorders
/ Diseases
for VWA2 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
|
VWA2 for disorders About GeneDecksing
3  diseases for VWA2: About MalaCardscolon cancer alzheimer's disease adenoma
Human Genome Epidemiology (HuGE) Navigator: VWA2 (1 document)
Export disorders for VWA2 gene to outside databases
|
Publications
for VWA2 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 VWA2 gene, integrated from 9 sources (see all 15):
(articles sorted by number of sources associating them with VWA2) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Identification and characterization of AMACO, a new member of the von Willebrand factor A-like domain protein superfamily with a regulated expression in the kidney. (PubMed id 14506275)1, 2, 3, 9 Sengle G....Wagener R. (2003)
- Colon cancer secreted protein-2 (CCSP-2), a novel candidate serological marker of colon neoplasia. (PubMed id 15580307)1, 2, 3, 9 Xin B.... Markowitz S. (2005)
- O-glucosylation and O-fucosylation occur together in close proximity on the first epidermal growth factor repeat of AMACO (VWA2 protein). (PubMed id 18434322)1, 9 Gebauer J.M....Wagener R. (2008)
- A rapid cloning method employing orthogonal end protec tion. (PubMed id 22685543)1 Jakobi A.J. and Huizinga E.G. (2012)
- A novel calcium-binding site of von Willebrand factor A2 domain regulates its cleavage by ADAMTS13. (PubMed id 21385852)1 Zhou M....Ding J. (2011)
- Extensive contacts between ADAMTS13 exosites and von Willebrand factor domain A2 contribute to substrate specificity. (PubMed id 18492952)1 Gao W....Sadler J.E. (2008)
- The consensus coding sequences of human breast and colorectal cancers. (PubMed id 16959974)2 Sjoeblom T.... Velculescu V.E. (2006)
- A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PubMed id 16385451)1 Grupe A....Goate A. (2006)
- 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)
- IDDM17: polymorphisms in the AMACO gene are associated with dominant protection against type 1A diabetes in a Bedouin Arab family. (PubMed id 15699509)1 Eller E....Fain P.R. (2004)
|
External Searches for VWA2 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing VWA2 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing VWA2 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing VWA2 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 VWA2 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for VWA2 gene:
Search GeneIP for patents involving VWA2
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for VWA2 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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