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VWA2 (von Willebrand factor A domain containing 2)

Identity

Alias_symbol (synonym)FLJ45857
FLJ16213
CCSP-2
AMACO
NET42
Other alias
HGNC (Hugo) VWA2
LocusID (NCBI) 340706
Atlas_Id 46548
Location 10q25.3  [Link to chromosome band 10q25]
Location_base_pair Starts at 114239254 and ends at 114294500 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
VWA2 (10q25.3) / IDE (10q23.33)VWA2 10q25.3 / IDE 10q23.33

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)VWA2   24709
Cards
Entrez_Gene (NCBI)VWA2  340706  von Willebrand factor A domain containing 2
AliasesAMACO; CCSP-2; NET42
GeneCards (Weizmann)VWA2
Ensembl hg19 (Hinxton)ENSG00000165816 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000165816 [Gene_View]  chr10:114239254-114294500 [Contig_View]  VWA2 [Vega]
ICGC DataPortalENSG00000165816
TCGA cBioPortalVWA2
AceView (NCBI)VWA2
Genatlas (Paris)VWA2
WikiGenes340706
SOURCE (Princeton)VWA2
Genetics Home Reference (NIH)VWA2
Genomic and cartography
GoldenPath hg38 (UCSC)VWA2  -     chr10:114239254-114294500 +  10q25.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)VWA2  -     10q25.3   [Description]    (hg19-Feb_2009)
EnsemblVWA2 - 10q25.3 [CytoView hg19]  VWA2 - 10q25.3 [CytoView hg38]
Mapping of homologs : NCBIVWA2 [Mapview hg19]  VWA2 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AI870708 AJ536328 AJ616914 AK122716 AK127756
RefSeq transcript (Entrez)NM_001272046 NM_001320804 NM_198496
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)VWA2
Cluster EST : UnigeneHs.197741 [ NCBI ]
CGAP (NCI)Hs.197741
Alternative Splicing GalleryENSG00000165816
Gene ExpressionVWA2 [ NCBI-GEO ]   VWA2 [ EBI - ARRAY_EXPRESS ]   VWA2 [ SEEK ]   VWA2 [ MEM ]
Gene Expression Viewer (FireBrowse)VWA2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)340706
GTEX Portal (Tissue expression)VWA2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ5GFL6   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ5GFL6  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ5GFL6
Splice isoforms : SwissVarQ5GFL6
PhosPhoSitePlusQ5GFL6
Domaine pattern : Prosite (Expaxy)EGF_1 (PS00022)    EGF_2 (PS01186)    EGF_3 (PS50026)    VWFA (PS50234)   
Domains : Interpro (EBI)EGF-like_Ca-bd_dom    EGF-like_CS    EGF-like_dom    VWA2    VWF_A   
Domain families : Pfam (Sanger)EGF (PF00008)    VWA (PF00092)   
Domain families : Pfam (NCBI)pfam00008    pfam00092   
Domain families : Smart (EMBL)EGF (SM00181)  EGF_CA (SM00179)  VWA (SM00327)  
Conserved Domain (NCBI)VWA2
DMDM Disease mutations340706
Blocks (Seattle)VWA2
SuperfamilyQ5GFL6
Human Protein AtlasENSG00000165816
Peptide AtlasQ5GFL6
HPRD16481
IPIIPI00394834   IPI00645921   IPI00827672   
Protein Interaction databases
DIP (DOE-UCLA)Q5GFL6
IntAct (EBI)Q5GFL6
FunCoupENSG00000165816
BioGRIDVWA2
STRING (EMBL)VWA2
ZODIACVWA2
Ontologies - Pathways
QuickGOQ5GFL6
Ontology : AmiGOcalcium ion binding  protein binding  basement membrane  extracellular space  calcium-independent cell-matrix adhesion  identical protein binding  regulation of insulin receptor signaling pathway  protein homooligomerization  extracellular exosome  
Ontology : EGO-EBIcalcium ion binding  protein binding  basement membrane  extracellular space  calcium-independent cell-matrix adhesion  identical protein binding  regulation of insulin receptor signaling pathway  protein homooligomerization  extracellular exosome  
NDEx NetworkVWA2
Atlas of Cancer Signalling NetworkVWA2
Wikipedia pathwaysVWA2
Orthology - Evolution
OrthoDB340706
GeneTree (enSembl)ENSG00000165816
Phylogenetic Trees/Animal Genes : TreeFamVWA2
HOVERGENQ5GFL6
HOGENOMQ5GFL6
Homologs : HomoloGeneVWA2
Homology/Alignments : Family Browser (UCSC)VWA2
Gene fusions - Rearrangements
Fusion : MitelmanVWA2/IDE [10q25.3/10q23.33]  
Fusion: TCGAVWA2 10q25.3 IDE 10q23.33 LGG
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerVWA2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)VWA2
dbVarVWA2
ClinVarVWA2
1000_GenomesVWA2 
Exome Variant ServerVWA2
ExAC (Exome Aggregation Consortium)VWA2 (select the gene name)
Genetic variants : HAPMAP340706
Genomic Variants (DGV)VWA2 [DGVbeta]
DECIPHERVWA2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisVWA2 
Mutations
ICGC Data PortalVWA2 
TCGA Data PortalVWA2 
Broad Tumor PortalVWA2
OASIS PortalVWA2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICVWA2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDVWA2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch VWA2
DgiDB (Drug Gene Interaction Database)VWA2
DoCM (Curated mutations)VWA2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)VWA2 (select a term)
intoGenVWA2
Cancer3DVWA2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
MedgenVWA2
Genetic Testing Registry VWA2
NextProtQ5GFL6 [Medical]
TSGene340706
GENETestsVWA2
Huge Navigator VWA2 [HugePedia]
snp3D : Map Gene to Disease340706
BioCentury BCIQVWA2
ClinGenVWA2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD340706
Chemical/Pharm GKB GenePA142670613
Clinical trialVWA2
Miscellaneous
canSAR (ICR)VWA2 (select the gene name)
Probes
Litterature
PubMed13 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineVWA2
EVEXVWA2
GoPubMedVWA2
iHOPVWA2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri May 19 12:43:58 CEST 2017

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