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VAPB Gene

protein-coding   GIFtS: 64
GCID: GC20P056964

VAMP (Vesicle-Associated Membrane Protein)-Associated Protein...

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
VAMP (Vesicle-Associated Membrane Protein)-Associated Protein B And
C1 2
     Vesicle-Associated Membrane Protein-Associated Protein B/C2
ALS82 5     VAMP-B/VAMP-C3
VAMP-B2     VAP-B/VAP-C3
VAP-B2     VAMP-Associated Protein B/C3
VAMP-Associated 33 KDa Protein2     VAPC5

External Ids:    HGNC: 126491   Entrez Gene: 92172   Ensembl: ENSG000001241647   OMIM: 6057045   UniProtKB: O952923   

Export aliases for VAPB gene to outside databases

Previous GC identifers: GC20P056692 GC20P057602 GC20P057649 GC20P056397 GC20P053747


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for VAPB Gene:
The protein encoded by this gene is a type IV membrane protein found in plasma and intracellular vesicle
membranes. The encoded protein is found as a homodimer and as a heterodimer with VAPA. This protein also can
interact with VAMP1 and VAMP2 and may be involved in vesicle trafficking. (provided by RefSeq, Jul 2008)

GeneCards Summary for VAPB Gene:
VAPB (VAMP (vesicle-associated membrane protein)-associated protein B and C) is a protein-coding gene. Diseases associated with VAPB include vapb-related amyotrophic lateral sclerosis, and spinal muscular atrophy, proximal, adult, autosomal dominant. GO annotations related to this gene include enzyme binding and protein homodimerization activity. An important paralog of this gene is VAPA.

UniProtKB/Swiss-Prot: VAPB_HUMAN, O95292
Function: Participates in the endoplasmic reticulum unfolded protein response (UPR) by inducing ERN1/IRE1
activity. Involved in cellular calcium homeostasis regulation

Gene Wiki entry for VAPB 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000020.11  NT_011362.11  NC_018931.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the VAPB gene promoter:
         TBP   Pbx1a   FOXO3   FOXO3b   C/EBPalpha   SRY   FOXO3a   Chx10   Cart-1   ZIC2/Zic2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidVAPB promoter sequence
   Search Chromatin IP Primers for VAPB

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat VAPB


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 20q13.33   Ensembl cytogenetic band:  20q13.32   HGNC cytogenetic band: 20q13

VAPB Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
VAPB gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20P056964:  view genomic region     (about GC identifiers)

Start:
56,964,175 bp from pter      End:
57,026,157 bp from pter
Size:
61,983 bases      Orientation:
plus strand
ORGUL member locations:
Legend (see complete legend)

ORGUL Member Locations for VAPB

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: VAPB_HUMAN, O95292 (See protein sequence)
Recommended Name: Vesicle-associated membrane protein-associated protein B/C  
Size: 243 amino acids; 27228 Da
Subunit: Homodimer, and heterodimer with VAPA. Interacts with VAMP1 and VAMP2. Interacts with HCV NS5A and NS5B.
Interacts (via MSP domain) with ZFYVE27. Interacts with RMDN3
2 PDB 3D structures from and Proteopedia for VAPB:
2MDK (3D)        3IKK (3D)    
Secondary accessions: A2A2F2 O95293 Q9P0H0
Alternative splicing: 2 isoforms:  O95292-1   O95292-2   

Explore the universe of human proteins at neXtProt for VAPB: NX_O95292

Explore proteomics data for VAPB at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys155
  • Modification sites at PhosphoSitePlus

  • See VAPB Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001182606.1  NP_004729.1  

    ENSEMBL proteins: 
     ENSP00000417175   ENSP00000379147   ENSP00000430426  
    Reactome Protein details: O95292

    VAPB Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR008962 PapD-like
     IPR000535 MSP_dom
     IPR016763 Vesicle-associated_membrane

    Graphical View of Domain Structure for InterPro Entry O95292

    ProtoNet protein and cluster: O95292

    1 Blocks protein domain: IPB000535 Major sperm protein (MSP) domain

    UniProtKB/Swiss-Prot: VAPB_HUMAN, O95292
    Similarity: Belongs to the VAMP-associated protein (VAP) (TC 9.B.17) family
    Similarity: Contains 1 MSP domain


    VAPB for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: VAPB_HUMAN, O95292
    Function: Participates in the endoplasmic reticulum unfolded protein response (UPR) by inducing ERN1/IRE1
    activity. Involved in cellular calcium homeostasis regulation

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005198structural molecule activity IEA--
    GO:0005515protein binding IPI16227268
    GO:0019899enzyme binding IPI17540579
    GO:0042803protein homodimerization activity IPI16227268
    GO:0046982protein heterodimerization activity IPI16227268
         
    VAPB for ontologies           About GeneDecksing


    Phenotypes:
         5 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Vapb):
     behavior/neurological  cellular  muscle  nervous system  no phenotypic analysis 

    VAPB for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Vapbtm1.2Ics for VAPB

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for VAPB
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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for VAPB

    miRNA
    Products:
        
    miRTarBase miRNAs that target VAPB:
    hsa-mir-331-3p (MIRT043365), hsa-mir-484 (MIRT042170), hsa-mir-342-3p (MIRT043683), hsa-mir-22-3p (MIRT050461), hsa-mir-877-3p (MIRT037089), hsa-mir-339-5p (MIRT042809)

    Block miRNA regulation of human, mouse, rat VAPB using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate VAPB (see all 97):
    hsa-miR-323-3p hsa-miR-4254 hsa-miR-607 hsa-miR-3152-3p hsa-miR-361-5p hsa-miR-1321 hsa-miR-4272 hsa-miR-15a
    SwitchGear 3'UTR luciferase reporter plasmidVAPB 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat VAPB

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector (see all 2): VAPB (NM_004738)
    Sino Biological Human cDNA Clone for VAPB
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for VAPB
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat VAPB

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for VAPB


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    VAPB_HUMAN, O95292: Endoplasmic reticulum membrane; Single-pass type IV membrane protein (By similarity).
    Note=Present in mitochondria-associated membranes that are endoplasmic reticulum membrane regions closely apposed
    to the outer mitochondrial membrane
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    golgi apparatus5
    cytosol3
    endosome1
    mitochondrion1
    nucleus1
    peroxisome1
    plasma membrane1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005783endoplasmic reticulum IDA15372378
    GO:0005789endoplasmic reticulum membrane TAS--
    GO:0005794Golgi apparatus IDA16227268
    GO:0016021integral component of membrane IEA--

    VAPB for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for VAPB About    
    See pathways by source

    SuperPathContained pathways About
    1Sphingolipid metabolism
    Sphingolipid metabolism0.61
    Sphingolipid de novo biosynthesis0.46
    2Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Reactome Pathway for VAPB
        Sphingolipid de novo biosynthesis



    VAPB for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for VAPB
    Interactions:

        GeneGlobe Interaction Network for VAPB

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for VAPB (O952921, 3 ENSP000004171754) via UniProtKB, MINT, STRING, and/or I2D (see all 83)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    VAMP2P630273, ENSP000003142144I2D: score=3 STRING: ENSP00000314214
    USP20Q9Y2K63, ENSP000003138114I2D: score=2 STRING: ENSP00000313811
    INSIG1O155033, ENSP000003447414I2D: score=1 STRING: ENSP00000344741
    MAPK3P273613, ENSP000002630254I2D: score=1 STRING: ENSP00000263025
    STX1BP612663, ENSP000002150954I2D: score=1 STRING: ENSP00000215095
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006665sphingolipid metabolic process TAS--
    GO:0006874cellular calcium ion homeostasis IMP--
    GO:0006987activation of signaling protein activity involved in unfolded protein response IDA--
    GO:0008219cell death IEA--
    GO:0019048modulation by virus of host morphology or physiology IDA16227268

    VAPB for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for VAPB



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for VAPB gene (2 alternative transcripts): 
    NM_001195677.1  NM_004738.4  

    Unigene Cluster for VAPB:

    VAMP (vesicle-associated membrane protein)-associated protein B and C
    Hs.182625  [show with all ESTs]
    Unigene Representative Sequence: NM_004738
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000475243(uc002xza.3 uc010zzo.2 uc002xzd.2 uc002xzb.3)
    ENST00000395802 ENST00000520497 ENST00000265619 ENST00000463370 ENST00000476395

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat VAPB using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate VAPB (see all 97):
    hsa-miR-323-3p hsa-miR-4254 hsa-miR-607 hsa-miR-3152-3p hsa-miR-361-5p hsa-miR-1321 hsa-miR-4272 hsa-miR-15a
    SwitchGear 3'UTR luciferase reporter plasmidVAPB 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for VAPB
    Predesigned siRNA for gene silencing in human, mouse, rat VAPB
    Clone
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    OriGene clones in human, mouse for VAPB (see all 9)
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): VAPB (NM_004738)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for VAPB
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat VAPB
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    OriGene qPCR primer pairs and template standards for VAPB
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat VAPB
      QuantiTect SYBR Green Assays in human, mouse, rat VAPB
      QuantiFast Probe-based Assays in human, mouse, rat VAPB

    Additional mRNA sequence: 

    AB209665.1 AF086628.1 AF086629.1 AF160212.1 AK023241.1 AK024771.1 AK025720.1 AK123388.1 
    AK123538.1 AK124571.1 AK127252.1 AK298036.1 AL833440.1 AY358464.1 BC001712.1 BT009811.1 
    NR_036633.1 

    14 DOTS entries:

    DT.415728  DT.95114920  DT.101983849  DT.117764  DT.101971495  DT.100822371  DT.40310052  DT.95233172 
    DT.100037682  DT.120810001  DT.100694981  DT.120810003  DT.95233145  DT.99949548 

    Selected AceView cDNA sequences (see all 332):

    BQ072006 AI457553 H21469 AA805735 BM765876 BU553009 AK127252 BQ071170 
    AL120403 AI697922 BU857571 AI332856 AK023241 AA512905 AU131215 BU152663 
    CD679272 BE727823 BU859270 BU956214 BM741160 CA393713 BM785652 BG180474 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for VAPB (see all 6)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9
    SP1:                          -           -     -                                 
    SP2:                                      -     -     -                           
    SP3:                                                                              
    SP4:                          -           -     -     -                           
    SP5:                          -           -     -     -     -     -     -         


    ECgene alternative splicing isoforms for VAPB

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    VAPB expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTGGGGAGTG
    VAPB Expression
    About this image


    VAPB expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Bone (Muscoskeletal System)    fully expand to see all 2 entries
             Mandibular Condyle
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Pancreas (Endocrine System)
             Islets of Langerhans
    VAPB Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    VAPB Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.182625

    UniProtKB/Swiss-Prot: VAPB_HUMAN, O95292
    Tissue specificity: Ubiquitous. Isoform 1 predominates

        Custom PCR Arrays for VAPB
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    QuantiFast Probe-based Assays in human, mouse, rat VAPB
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for VAPB

    (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)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for VAPB gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Vapb1 , 5 vesicle-associated membrane protein, associated protein more1, 5 87.52(n)1
    90.12(a)1
      2 (97.37 cM)5
    564911  NM_019806.51  NP_062780.21 
     1737375115 
    chicken
    (Gallus gallus)
    Aves VAPB1 VAMP (vesicle-associated membrane protein)-associated more 83.4(n)
    87.24(a)
      419317  NM_001006296.1  NP_001006296.1 
    lizard
    (Anolis carolinensis)
    Reptilia VAPB6
    VAMP (vesicle-associated membrane protein)-associa...
    90(a)
    1 ↔ 1
    GL343217.1(47818-101131)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.292712 Xenopus laevis transcribed sequence with moderate similarity more 75.78(n)    CD302062.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufa96d052 Danio rerio cDNA clone MGC66045 IMAGE6794840, complete more 76.78(n)    BC064648.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Vap-33-11 , 3 neuromuscular junction development3
    Vap-33-11
    56(a)3
    47.13(n)1
    40.52(a)1
      3F93
    313491  NM_206624.11  NP_996347.11 
    worm
    (Caenorhabditis elegans)
    Secernentea F33D11.113
    vpr-11
    vpr-11 36(a)3
    44.96(n)1
    36.13(a)1
      I(5877012-5878084)3
    1722591  NM_059303.41  NP_491704.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes SCS226
    SCS26
    Protein involved in regulation of phospholipid met...
    Integral ER membrane protein that regulates phosph...
    26(a)
    19(a)
    many ↔ many
    many ↔ many
    II(46565-47180) YBL091C-A
    V(401135-401869) YER120W


    ENSEMBL Gene Tree for VAPB (if available)
    TreeFam Gene Tree for VAPB (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for VAPB gene
    VAPA2  
    2 SIMAP similar genes for VAPB using alignment to 3 protein entries:     VAPB_HUMAN (see all proteins):
    VAPA    MOSPD2

    VAPB for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for VAPB
    PGOHUM00000233533


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for VAPB (see all 1404)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 20 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs743154311,2,,4
    CSpinal muscular atrophy, proximal, adult, autosomal dominant (SMAPAD)4 pathogenic156962832(+) TGAGGC/TCCAAC 5 P S mis10--------
    rs60704581,2
    C,A,H--53760496(+) CCACCT/CTTTTT 3 -- int1 trp35Minor allele frequency- C:0.00NA WA CSA 9
    rs1472586721,2
    --53766825(+) CAGAC-/ACCCCC 3 -- int10--------
    rs602977031,2
    C--53766836(+) CCCCC-/C/CC  
            
    ACCCC
    3 -- int11NA 2
    rs105677771,2
    C--53767839(+) ACACA-/AC/   
       CA
    /TA
    ATACA
    3 -- int10--------
    rs741779201,2
    C--53771893(+) TGACCC/TCCCCA 3 -- int11Minor allele frequency- T:0.00NA 2
    rs741779211,2
    C--53771918(+) GGGGCG/AGCTGG 3 -- int11Minor allele frequency- A:0.00NA 2
    rs1443909091,2
    C--53788191(+) TTTTC-/TCTTTT 3 -- int10--------
    rs571009871,2
    C--53794292(+) TTTTT-/TTTT  
      
    /TTTTT
    GGAGA
    3 -- int11NA 2
    rs1449038331,2
    --56931753(+) TGCTGA/GGAGAG 3 -- us2k10--------

    HapMap Linkage Disequilibrium report for VAPB (56964175 - 57026157 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for VAPB:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2722621CNV Deletion23290073
    nsv834019CNV Loss17160897
    nsv3428CNV Loss18451855

    Human Gene Mutation Database (HGMD): VAPB
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing VAPB
    DNA2.0 Custom Variant and Variant Library Synthesis for VAPB

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 605704   
    OMIM disorders: 608627  182980  
    UniProtKB/Swiss-Prot: VAPB_HUMAN, O95292
  • Amyotrophic lateral sclerosis 8 (ALS8) [MIM:608627]: A neurodegenerative disorder affecting upper motor
    neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis.
    Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal
    tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and
    deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be
    multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases.
    Note=The disease is caused by mutations affecting the gene represented in this entry
  • Spinal muscular atrophy, proximal, adult, autosomal dominant (SMAPAD) [MIM:182980]: A form of spinal
    muscular atrophy, a neuromuscular disorder characterized by degeneration of the anterior horn cells of the spinal
    cord, leading to symmetrical muscle weakness and atrophy. SMAPAD is characterized by proximal muscle weakness
    that begins in the lower limbs and then progresses to upper limbs, onset in late adulthood (after third decade)
    and a benign course. Most of the patients remain ambulatory 10 to 40 years after clinical onset. Note=The disease
    is caused by mutations affecting the gene represented in this entry

  • Selected diseases for VAPB (see all 25):    
    About MalaCards
    vapb-related amyotrophic lateral sclerosis    spinal muscular atrophy, proximal, adult, autosomal dominant    amyotrophic lateral sclerosis type 8    spinal muscular atrophy, late-onset, finkel type
    proximal spinal muscular atrophy    spinal muscular atrophy    amyotrophic lateral sclerosis    dysautonomia
    muscular atrophy    lateral sclerosis    motor neuron disease    hepatitis c virus
    hepatitis c    schizophrenia    multiple sclerosis    tonsillitis
    hepatitis    neuronitis    multiple myeloma    myeloma


    VAPB for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for VAPB gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    amyotrophic lateral sclerosis 78.6 5 18555774 (2), 20227395 (1), 17947296 (1), 16729899 (1)

    GeneTests: VAPB
    GeneReviews: VAPB
    Genetic Association Database (GAD): VAPB
    Human Genome Epidemiology (HuGE) Navigator: VAPB (4 documents)

    Export disorders for VAPB gene to outside databases

    (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)
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    PubMed articles for VAPB gene, integrated from 10 sources (see all 91):
    (articles sorted by number of sources associating them with VAPB)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning and characterization of mammalian homologues of vesicle-associated membrane protein-associated (VAMP-associated) proteins. (PubMed id 9920726)1, 2, 3 Nishimura Y.... Tanaka T. (Biochem. Biophys. Res. Commun. 1999)
    2. Characterization of amyotrophic lateral sclerosis-linked P56S mutation of vesicle-associated membrane protein-associated protein B (VAPB/ALS8). (PubMed id 16891305)1, 2, 9 Kanekura K.... Matsuoka M. (J. Biol. Chem. 2006)
    3. Sporadic ALS is not associated with VAPB gene mutations in Southern Italy. (PubMed id 16729899)1, 4, 9 Conforti F.L....Quattrone A. (J Negat Results Biomed 2006)
    4. A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis. (PubMed id 15372378)1, 2, 9 Nishimura A.L.... Zatz M. (Am. J. Hum. Genet. 2004)
    5. VAPB interacts with the mitochondrial protein PTPIP51 to regulate calcium homeostasis. (PubMed id 22131369)1, 2 De Vos K.J.... Miller C.C. (Hum. Mol. Genet. 2012)
    6. SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype-phenotype correlations. (PubMed id 20577002)1, 4 Millecamps S....Meininger V. (J. Med. Genet. 2010)
    7. Characterization of the properties of a novel mutation in VAPB in familial amyotrophic lateral sclerosis. (PubMed id 20940299)1, 2 Chen H.J.... de Belleroche J.S. (J. Biol. Chem. 2010)
    8. Promotion of neurite extension by protrudin requires its interaction with vesicle-associated membrane protein-associated protein. (PubMed id 19289470)1, 2 Saita S.... Nakayama K.I. (J. Biol. Chem. 2009)
    9. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (Cell 2006)
    10. Human VAP-B is involved in hepatitis C virus replication through interaction with NS5A and NS5B. (PubMed id 16227268)1, 2 Hamamoto I.... Matsuura Y. (J. Virol. 2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 9217 HGNC: 12649 AceView: VAPB Ensembl:ENSG00000124164 euGenes: HUgn9217
    ECgene: VAPB H-InvDB: VAPB

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for VAPB Pharmacogenomics, SNPs, Pathways
    Alsodhttp://alsod.iop.kcl.ac.uk/Als/
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=VAPB[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for VAPB gene:
    Search GeneIP for patents involving VAPB

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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