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VAPB (VAMP (vesicle-associated membrane protein)-associated protein B and C)

Identity

Alias_namesVAMP (vesicle-associated membrane protein)-associated protein B and C
Alias_symbol (synonym)VAP-B
VAP-C
ALS8
Other aliasVAMP-B
HGNC (Hugo) VAPB
LocusID (NCBI) 9217
Atlas_Id 53207
Location 20q13.32  [Link to chromosome band 20q13]
Location_base_pair Starts at 56964175 and ends at 57026156 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
DAXX (6p21.32) / VAPB (20q13.32)VAPB (20q13.32) / CASS4 (20q13.2)VAPB (20q13.32) / DMD (Xp21.2)
VAPB (20q13.32) / IKZF3 (17q12)VAPB (20q13.32) / VAPB (20q13.32)VAPB 20q13.32 / CASS4 20q13.2

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)VAPB   12649
LRG (Locus Reference Genomic)LRG_656
Cards
Entrez_Gene (NCBI)VAPB  9217  VAMP (vesicle-associated membrane protein)-associated protein B and C
AliasesALS8; VAMP-B; VAP-B
GeneCards (Weizmann)VAPB
Ensembl hg19 (Hinxton)ENSG00000124164 [Gene_View]  chr20:56964175-57026156 [Contig_View]  VAPB [Vega]
Ensembl hg38 (Hinxton)ENSG00000124164 [Gene_View]  chr20:56964175-57026156 [Contig_View]  VAPB [Vega]
ICGC DataPortalENSG00000124164
TCGA cBioPortalVAPB
AceView (NCBI)VAPB
Genatlas (Paris)VAPB
WikiGenes9217
SOURCE (Princeton)VAPB
Genetics Home Reference (NIH)VAPB
Genomic and cartography
GoldenPath hg19 (UCSC)VAPB  -     chr20:56964175-57026156 +  20q13.32   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)VAPB  -     20q13.32   [Description]    (hg38-Dec_2013)
EnsemblVAPB - 20q13.32 [CytoView hg19]  VAPB - 20q13.32 [CytoView hg38]
Mapping of homologs : NCBIVAPB [Mapview hg19]  VAPB [Mapview hg38]
OMIM182980   605704   608627   
Gene and transcription
Genbank (Entrez)AB209665 AF086628 AF086629 AF160212 AK023241
RefSeq transcript (Entrez)NM_001195677 NM_004738
RefSeq genomic (Entrez)NC_000020 NC_018931 NG_008073 NT_011362 NW_004929418
Consensus coding sequences : CCDS (NCBI)VAPB
Cluster EST : UnigeneHs.182625 [ NCBI ]
CGAP (NCI)Hs.182625
Alternative Splicing GalleryENSG00000124164
Gene ExpressionVAPB [ NCBI-GEO ]   VAPB [ EBI - ARRAY_EXPRESS ]   VAPB [ SEEK ]   VAPB [ MEM ]
Gene Expression Viewer (FireBrowse)VAPB [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9217
GTEX Portal (Tissue expression)VAPB
Protein : pattern, domain, 3D structure
UniProt/SwissProtO95292   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO95292  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO95292
Splice isoforms : SwissVarO95292
PhosPhoSitePlusO95292
Domaine pattern : Prosite (Expaxy)MSP (PS50202)   
Domains : Interpro (EBI)MSP_dom    PapD-like    VAP    VapB   
Domain families : Pfam (Sanger)Motile_Sperm (PF00635)   
Domain families : Pfam (NCBI)pfam00635   
Conserved Domain (NCBI)VAPB
DMDM Disease mutations9217
Blocks (Seattle)VAPB
PDB (SRS)2MDK    3IKK   
PDB (PDBSum)2MDK    3IKK   
PDB (IMB)2MDK    3IKK   
PDB (RSDB)2MDK    3IKK   
Structural Biology KnowledgeBase2MDK    3IKK   
SCOP (Structural Classification of Proteins)2MDK    3IKK   
CATH (Classification of proteins structures)2MDK    3IKK   
SuperfamilyO95292
Human Protein AtlasENSG00000124164
Peptide AtlasO95292
HPRD09300
IPIIPI00006211   IPI00748221   IPI00216174   IPI00910004   IPI00443658   IPI00980397   
Protein Interaction databases
DIP (DOE-UCLA)O95292
IntAct (EBI)O95292
FunCoupENSG00000124164
BioGRIDVAPB
STRING (EMBL)VAPB
ZODIACVAPB
Ontologies - Pathways
QuickGOO95292
Ontology : AmiGOGolgi membrane  protein binding  endoplasmic reticulum  endoplasmic reticulum membrane  endoplasmic reticulum membrane  Golgi apparatus  cellular calcium ion homeostasis  ER to Golgi vesicle-mediated transport  activation of signaling protein activity involved in unfolded protein response  endoplasmic reticulum organization  microtubule binding  integral component of membrane  modulation by virus of host morphology or physiology  enzyme binding  sphingolipid biosynthetic process  endoplasmic reticulum unfolded protein response  FFAT motif binding  protein homodimerization activity  negative regulation by host of viral release from host cell  positive regulation by host of viral release from host cell  negative regulation by host of viral genome replication  positive regulation by host of viral genome replication  modulation by host of viral RNA genome replication  positive regulation of viral genome replication  negative regulation by virus of viral protein levels in host cell  protein heterodimerization activity  beta-tubulin binding  endoplasmic reticulum exit site  COPII-coated vesicle budding  
Ontology : EGO-EBIGolgi membrane  protein binding  endoplasmic reticulum  endoplasmic reticulum membrane  endoplasmic reticulum membrane  Golgi apparatus  cellular calcium ion homeostasis  ER to Golgi vesicle-mediated transport  activation of signaling protein activity involved in unfolded protein response  endoplasmic reticulum organization  microtubule binding  integral component of membrane  modulation by virus of host morphology or physiology  enzyme binding  sphingolipid biosynthetic process  endoplasmic reticulum unfolded protein response  FFAT motif binding  protein homodimerization activity  negative regulation by host of viral release from host cell  positive regulation by host of viral release from host cell  negative regulation by host of viral genome replication  positive regulation by host of viral genome replication  modulation by host of viral RNA genome replication  positive regulation of viral genome replication  negative regulation by virus of viral protein levels in host cell  protein heterodimerization activity  beta-tubulin binding  endoplasmic reticulum exit site  COPII-coated vesicle budding  
NDEx NetworkVAPB
Atlas of Cancer Signalling NetworkVAPB
Wikipedia pathwaysVAPB
Orthology - Evolution
OrthoDB9217
GeneTree (enSembl)ENSG00000124164
Phylogenetic Trees/Animal Genes : TreeFamVAPB
HOVERGENO95292
HOGENOMO95292
Homologs : HomoloGeneVAPB
Homology/Alignments : Family Browser (UCSC)VAPB
Gene fusions - Rearrangements
Fusion : MitelmanVAPB/CASS4 [20q13.32/20q13.2]  
Fusion : MitelmanVAPB/IKZF3 [20q13.32/17q12]  [t(17;20)(q12;q13)]  
Fusion: TCGAVAPB 20q13.32 CASS4 20q13.2 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerVAPB [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)VAPB
dbVarVAPB
ClinVarVAPB
1000_GenomesVAPB 
Exome Variant ServerVAPB
ExAC (Exome Aggregation Consortium)VAPB (select the gene name)
Genetic variants : HAPMAP9217
Genomic Variants (DGV)VAPB [DGVbeta]
DECIPHER (Syndromes)20:56964175-57026156  ENSG00000124164
CONAN: Copy Number AnalysisVAPB 
Mutations
ICGC Data PortalVAPB 
TCGA Data PortalVAPB 
Broad Tumor PortalVAPB
OASIS PortalVAPB [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICVAPB  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDVAPB
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
LOVD (Leiden Open Variation Database)Mendelian genes
BioMutasearch VAPB
DgiDB (Drug Gene Interaction Database)VAPB
DoCM (Curated mutations)VAPB (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)VAPB (select a term)
intoGenVAPB
Cancer3DVAPB(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM182980    605704    608627   
Orphanet106    18654   
MedgenVAPB
Genetic Testing Registry VAPB
NextProtO95292 [Medical]
TSGene9217
GENETestsVAPB
Huge Navigator VAPB [HugePedia]
snp3D : Map Gene to Disease9217
BioCentury BCIQVAPB
ClinGenVAPB
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9217
Chemical/Pharm GKB GenePA37273
Clinical trialVAPB
Miscellaneous
canSAR (ICR)VAPB (select the gene name)
Probes
Litterature
PubMed94 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineVAPB
EVEXVAPB
GoPubMedVAPB
iHOPVAPB
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 13:33:47 CET 2017

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