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VWC2 (von Willebrand factor C domain containing 2)

Identity

Alias_symbol (synonym)PSST739
UNQ739
Other alia{ HGNC (Hugo) VWC2
LocusID (NCBI) 375567
Atlas_Id 75670
Location 7p12.2  [Link to chromosome band 7p12]
Location_base_pair Starts at 49773661 and ends at 49916750 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)
CASD1 (7q21.3) / VWC2 (7p12.2)MAGI2 (7q21.11) / VWC2 (7p12.2)PTPRR (12q15) / VWC2 (7p12.2)
VWC2 (7p12.2) / RAB20 (13q34)CASD1 VWC2PTPRR VWC2
MAGI2 VWC2

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)VWC2   30200
Cards
Entrez_Gene (NCBI)VWC2  375567  von Willebrand factor C domain containing 2
AliasesPSST739; UNQ739
GeneCards (Weizmann)VWC2
Ensembl hg19 (Hinxton) [Gene_View]
Ensembl hg38 (Hinxton) [Gene_View]  chr7:49773661-49916750 [Contig_View]  VWC2 [Vega]
TCGA cBioPortalVWC2
AceView (NCBI)VWC2
Genatlas (Paris)VWC2
WikiGenes375567
SOURCE (Princeton)VWC2
Genetics Home Reference (NIH)VWC2
Genomic and cartography
GoldenPath hg38 (UCSC)VWC2  -     chr7:49773661-49916750 +  7p12.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)VWC2  -     7p12.2   [Description]    (hg19-Feb_2009)
EnsemblVWC2 - 7p12.2 [CytoView hg19]  VWC2 - 7p12.2 [CytoView hg38]
Mapping of homologs : NCBIVWC2 [Mapview hg19]  VWC2 [Mapview hg38]
OMIM611108   
Gene and transcription
Genbank (Entrez)AB292671 AY358393 BC110857 DB299275 H19446
RefSeq transcript (Entrez)NM_198570
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)VWC2
Cluster EST : UnigeneHs.657556 [ NCBI ]
CGAP (NCI)Hs.657556
Gene ExpressionVWC2 [ NCBI-GEO ]   VWC2 [ EBI - ARRAY_EXPRESS ]   VWC2 [ SEEK ]   VWC2 [ MEM ]
Gene Expression Viewer (FireBrowse)VWC2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)375567
GTEX Portal (Tissue expression)VWC2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ2TAL6   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ2TAL6  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ2TAL6
Splice isoforms : SwissVarQ2TAL6
PhosPhoSitePlusQ2TAL6
Domaine pattern : Prosite (Expaxy)VWFC_1 (PS01208)    VWFC_2 (PS50184)   
Domains : Interpro (EBI)VWF_dom   
Domain families : Pfam (Sanger)VWC (PF00093)   
Domain families : Pfam (NCBI)pfam00093   
Domain families : Smart (EMBL)VWC (SM00214)  
Conserved Domain (NCBI)VWC2
DMDM Disease mutations375567
Blocks (Seattle)VWC2
SuperfamilyQ2TAL6
Peptide AtlasQ2TAL6
HPRD18271
IPIIPI00394870   
Protein Interaction databases
DIP (DOE-UCLA)Q2TAL6
IntAct (EBI)Q2TAL6
BioGRIDVWC2
STRING (EMBL)VWC2
ZODIACVWC2
Ontologies - Pathways
QuickGOQ2TAL6
Ontology : AmiGOmolecular_function  basement membrane  interstitial matrix  extracellular space  positive regulation of cell-substrate adhesion  cell junction  negative regulation of BMP signaling pathway  AMPA glutamate receptor complex  synapse  positive regulation of neuron differentiation  
Ontology : EGO-EBImolecular_function  basement membrane  interstitial matrix  extracellular space  positive regulation of cell-substrate adhesion  cell junction  negative regulation of BMP signaling pathway  AMPA glutamate receptor complex  synapse  positive regulation of neuron differentiation  
NDEx NetworkVWC2
Atlas of Cancer Signalling NetworkVWC2
Wikipedia pathwaysVWC2
Orthology - Evolution
OrthoDB375567
Phylogenetic Trees/Animal Genes : TreeFamVWC2
HOVERGENQ2TAL6
HOGENOMQ2TAL6
Homologs : HomoloGeneVWC2
Homology/Alignments : Family Browser (UCSC)VWC2
Gene fusions - Rearrangements
Fusion: TCGA_MDACCCASD1 VWC2
Fusion: TCGA_MDACCPTPRR VWC2
Fusion: TCGA_MDACCMAGI2 VWC2
Tumor Fusion PortalVWC2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerVWC2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)VWC2
dbVarVWC2
ClinVarVWC2
1000_GenomesVWC2 
Exome Variant ServerVWC2
ExAC (Exome Aggregation Consortium)
Genetic variants : HAPMAP375567
Genomic Variants (DGV)VWC2 [DGVbeta]
DECIPHERVWC2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisVWC2 
Mutations
ICGC Data PortalVWC2 
TCGA Data PortalVWC2 
Broad Tumor PortalVWC2
OASIS PortalVWC2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICVWC2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDVWC2
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 VWC2
DgiDB (Drug Gene Interaction Database)VWC2
DoCM (Curated mutations)VWC2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)VWC2 (select a term)
intoGenVWC2
Cancer3DVWC2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM611108   
Orphanet
DisGeNETVWC2
MedgenVWC2
Genetic Testing Registry VWC2
NextProtQ2TAL6 [Medical]
TSGene375567
GENETestsVWC2
Target ValidationVWC2
Huge Navigator VWC2 [HugePedia]
snp3D : Map Gene to Disease375567
BioCentury BCIQVWC2
ClinGenVWC2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD375567
Chemical/Pharm GKB GenePA147357154
Clinical trialVWC2
Miscellaneous
canSAR (ICR)VWC2 (select the gene name)
Probes
Litterature
PubMed6 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineVWC2
EVEXVWC2
GoPubMedVWC2
iHOPVWC2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Nov 20 20:21:31 CET 2017

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