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VWA2 (von Willebrand factor A domain containing 2)

Identity

Alias (NCBI)AMACO
CCSP-2
CCSP2
NET42
HGNC (Hugo) VWA2
HGNC Alias symbFLJ45857
FLJ16213
CCSP-2
AMACO
NET42
LocusID (NCBI) 340706
Atlas_Id 46548
Location 10q25.3  [Link to chromosome band 10q25]
Location_base_pair Starts at 114239614 and ends at 114294500 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
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    von Willebrand factor A domain containing 2
AliasesAMACO; CCSP-2; CCSP2; NET42
GeneCards (Weizmann)VWA2
Ensembl hg19 (Hinxton)ENSG00000165816 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000165816 [Gene_View]  ENSG00000165816 [Sequence]  chr10:114239614-114294500 [Contig_View]  VWA2 [Vega]
ICGC DataPortalENSG00000165816
TCGA cBioPortalVWA2
AceView (NCBI)VWA2
Genatlas (Paris)VWA2
SOURCE (Princeton)VWA2
Genetics Home Reference (NIH)VWA2
Genomic and cartography
GoldenPath hg38 (UCSC)VWA2  -     chr10:114239614-114294500 +  10q25.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)VWA2  -     10q25.3   [Description]    (hg19-Feb_2009)
GoldenPathVWA2 - 10q25.3 [CytoView hg19]  VWA2 - 10q25.3 [CytoView hg38]
ImmunoBaseENSG00000165816
Genome Data Viewer NCBIVWA2 [Mapview hg19]  
OMIM618281   
Gene and transcription
Genbank (Entrez)AI870708 AJ536328 AJ616914 AK122716 AK127756
RefSeq transcript (Entrez)NM_001272046 NM_001320804 NM_198496
Consensus coding sequences : CCDS (NCBI)VWA2
Gene ExpressionVWA2 [ NCBI-GEO ]   VWA2 [ EBI - ARRAY_EXPRESS ]   VWA2 [ SEEK ]   VWA2 [ MEM ]
Gene Expression Viewer (FireBrowse)VWA2 [ Firebrowse - Broad ]
GenevisibleExpression of VWA2 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)340706
GTEX Portal (Tissue expression)VWA2
Human Protein AtlasENSG00000165816-VWA2 [pathology]   [cell]   [tissue]
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
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_dom    VWA2    VWF_A    vWFA_dom_sf   
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
SuperfamilyQ5GFL6
AlphaFold pdb e-kbQ5GFL6   
Human Protein Atlas [tissue]ENSG00000165816-VWA2 [tissue]
HPRD16481
Protein Interaction databases
DIP (DOE-UCLA)Q5GFL6
IntAct (EBI)Q5GFL6
BioGRIDVWA2
STRING (EMBL)VWA2
ZODIACVWA2
Ontologies - Pathways
QuickGOQ5GFL6
Ontology : AmiGOcalcium ion binding  protein binding  basement membrane  extracellular space  extracellular space  calcium-independent cell-matrix adhesion  identical protein binding  regulation of insulin receptor signaling pathway  collagen-containing extracellular matrix  extracellular exosome  
Ontology : EGO-EBIcalcium ion binding  protein binding  basement membrane  extracellular space  extracellular space  calcium-independent cell-matrix adhesion  identical protein binding  regulation of insulin receptor signaling pathway  collagen-containing extracellular matrix  extracellular exosome  
NDEx NetworkVWA2
Atlas of Cancer Signalling NetworkVWA2
Wikipedia pathwaysVWA2
Orthology - Evolution
OrthoDB340706
GeneTree (enSembl)ENSG00000165816
Phylogenetic Trees/Animal Genes : TreeFamVWA2
Homologs : HomoloGeneVWA2
Homology/Alignments : Family Browser (UCSC)VWA2
Gene fusions - Rearrangements
Fusion : MitelmanVWA2/IDE [10q25.3/10q23.33]  
Fusion : QuiverVWA2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerVWA2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)VWA2
dbVarVWA2
ClinVarVWA2
MonarchVWA2
1000_GenomesVWA2 
Exome Variant ServerVWA2
GNOMAD BrowserENSG00000165816
Varsome BrowserVWA2
ACMGVWA2 variants
VarityQ5GFL6
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]  
Somatic Mutations in Cancer : COSMIC3DVWA2
Mutations and Diseases : HGMDVWA2
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaVWA2
DgiDB (Drug Gene Interaction Database)VWA2
DoCM (Curated mutations)VWA2
CIViC (Clinical Interpretations of Variants in Cancer)VWA2
Cancer3DVWA2
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM618281   
Orphanet
DisGeNETVWA2
MedgenVWA2
Genetic Testing Registry VWA2
NextProtQ5GFL6 [Medical]
GENETestsVWA2
Target ValidationVWA2
Huge Navigator VWA2 [HugePedia]
ClinGenVWA2
Clinical trials, drugs, therapy
MyCancerGenomeVWA2
Protein Interactions : CTDVWA2
Pharm GKB GenePA142670613
PharosQ5GFL6
Clinical trialVWA2
Miscellaneous
canSAR (ICR)VWA2
HarmonizomeVWA2
DataMed IndexVWA2
Probes
Litterature
PubMed17 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXVWA2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 15:38:10 CEST 2021

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