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VCP Gene

protein-coding   GIFtS: 68

GC09M035046
valosin-containing protein
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section

Aliases
IBMPFD 1, 2, 5
MGC131997 2
MGC148092 2
MGC8560 2
TERA 2
p97 1, 2
Descriptions
15S Mg(2+)-ATPase p97 subunit 3
TER ATPase 3
transitional endoplasmic reticulum ATPase 2
valosin-containing protein 2, 3
yeast Cdc48p homolog 2
External Ids
HGNC: 126661
Entrez Gene: 74152
UniProtKB: P550723
Ensembl: ENSG000001652807
Search outside databases for aliases for VCP gene

Previous GC identifers: GC09M035368 GC09M035225

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

EntrezGene summary for VCP:
The protein encoded by this gene is a member of a family that includes putative ATP-binding
proteins involved in vesicle transport and fusion, 26S proteasome function, and assembly of
peroxisomes. This protein, as a structural protein, is associated with clathrin, and heat-shock
protein Hsc70, to form a complex. It has been implicated in a number of cellular events that are
regulated during mitosis, including homotypic membrane fusion, spindle pole body function, and
ubiquitin-dependent protein degradation. [provided by RefSeq]

UniProtKB/Swiss-Prot: TERA_HUMAN, P55072
Function: Necessary for the fragmentation of Golgi stacks during mitosis and for their reassembly
after mitosis. Involved in the formation of the transitional endoplasmic reticulum (tER). The
transfer of membranes from the endoplasmic reticulum to the Golgi apparatus occurs via 50-70 nm
transition vesicles which derive from part-rough, part-smooth transitional elements of the
endoplasmic reticulum (tER). Vesicle budding from the tER is an ATP-dependent process. The ternary
complex containing UFD1L, VCP and NPLOC4 binds ubiquitinated proteins and is necessary for the
export of misfolded proteins from the ER to the cytoplasm, where they are degraded by the
proteasome. The NPLOC4-UFD1L-VCP complex regulates spindle disassembly at the end of mitosis and
is necessary for the formation of a closed nuclear envelope (By similarity). Regulates E3
ubiquitin-protein ligase activity of RNF19A

Gene Wiki entry for VCP (Valosin-containing_protein)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the VCP gene  

Entrez Gene cytogenetic band: 9p13.3   Ensembl cytogenetic band:  9p13.3   HGNC cytogenetic band: 9p13-p12

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

GeneLoc gene densities for chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09M035046:     (about GC identifiers)

Start:
35,046,560 bp from pter
End:
35,062,598 bp from pter
Size:
16,039 bases
Orientation:
minus strand
RefSeq DNA sequence:
NC_000009.10  NT_008413.17  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
About This Section

UniProtKB/Swiss-Prot: TERA_HUMAN, P55072 (See protein sequence)
Recommended Name: Transitional endoplasmic reticulum ATPase  
Size: 806 amino acids; 89322 Da
Subunit: Homohexamer. Forms a ring-shaped particle of 12.5 nm diameter, that displays 6-fold radial
symmetry. Part of a ternary complex containing STX5A, NSFL1C and VCP. NSFL1C forms a homotrimer
that binds to one end of a VCP homohexamer. The complex binds to membranes enriched in
phosphatidylethanolamine-containing lipids and promotes Golgi membrane fusion. Binds to a
heterodimer of NPLOC4 and UFD1L, binding to this heterodimer inhibits Golgi-membrane fusion.
Interaction with VCIP135 leads to dissociation of the complex via ATP hydrolysis by VCP. Part of a
ternary complex containing NPLOC4, UFD1L and VCP. Interacts with NSFL1C-like protein p37; the
complex has membrane fusion activity and is required for Golgi and endoplasmic reticulum
biogenesis (By similarity). Interacts with SELS/VIMP and SYVN1, as well as with DERL1, DERL2 and
DERL3; which probably transfer misfolded proteins from the ER to VCP. Interacts with SVIP.
Component of a complex required to couple retrotranslocation, ubiquitination and deglycosylation
composed of NGLY1, SAKS1, AMFR, VCP and RAD23B. Directly interacts with UBXD2 and RNF19A.
Interacts with CASR. Interacts with UBXN6 and UBE4B
Subcellular location: Cytoplasm, cytosol. Nucleus. Note=Present in the neuronal hyaline inclusion
bodies specifically found in motor neurons from amyotrophic lateral sclerosis patients. Present in
the Lewy bodies specifically found in neurons from Parkinson disease patients
PDB structures from and Proteopedia :
3EBB (3D)    
Secondary accessions: Q969G7

Post-translational modifications:

  • Phosphorylated by tyrosine kinases in response to T-cell antigen receptor activation (By
    similarity). Phosphorylated upon DNA damage, probably by ATM or ATR1
  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins: NP_009057.1  

    ENSEMBL proteins: 
    ENSP00000351777 


    Human Recombinant Proteins 
    Browse Drug Discovery Central at Invitrogen for human recombinant proteins
    Browse Purified and Recombinant Proteins at Millipore
    Browse Human Recombinant Proteins at Sigma-Aldrich  
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Recombinant Proteins from Abcam (VCP)
    Human Recombinant Proteins from Abnova (VCP)
                  OriGene Purified Recombinant Human Protein: VCP 

    5 Gene Ontology (GO) cellular component terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634 nucleus TAS16130169
    GO:0005737 cytoplasm IEA--
    GO:0005783 endoplasmic reticulum IDA15215856
    GO:0005792 microsome ISS--
    GO:0005829 cytosol IDA10855792 15215856
    About this table

    Antibodies for VCP: 
    Browse Antibodies Central at Invitrogen
    Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Sigma-Aldrich Antibodies for VCP
    Browse R&D Systems for Antibodies
    Cell Signaling Technology (CST) Antibodies for VCP 
    Antibodies from Abcam (VCP), each with their AbpromiseSM
    Monoclonal and Polyclonal Antibodies from Abnova (VCP)
    Novus Biologicals Antibodies for VCP

    Assays for VCP: 
    Browse Invitrogen for biochemical assays
    Browse Kits and Assays available from Millipore
    Browse R&D Systems for biochemical assays
    Browse biochemical assays available from Enzo Life Sciences

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    5/7 InterPro domains/families (see all 7 ):
     IPR003959 ATPase_AAA_core
     IPR003338 ATPase_AAA_VAT_N
     IPR003960 ATPase_AAA_CS
     IPR004201 Cell_division_protein_CDC48_2
     IPR003593 ATPase_AAA+_core


       GeneDecks  VCP for the domains selected above  
    About GeneDecksing

    Graphical View of Domain Structure for InterPro Entry P55072

    ProtoNet protein and cluster: P55072

    2 Blocks protein families:
    IPB003338 AAA ATPase VAT
    IPB003960 AAA-protein subdomain


    UniProtKB/Swiss-Prot: TERA_HUMAN, P55072
    Similarity: Belongs to the AAA ATPase family

    (According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
    RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (VCP)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (VCP)
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_007126

                  Applied Biosystems Silencer® siRNAs for VCP

                  Sigma-Aldrich siRNA and siRNA Panels for VCP  
                         Sigma-Aldrich shRNA Panels and shRNA for VCP  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Clones:Invitrogen Clones for VCP
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_007126
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_007126
                                     untagged cDNA clone in CMV expression vector: NM_007126 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_007126

    UniProtKB/Swiss-Prot: TERA_HUMAN, P55072
    Function: Necessary for the fragmentation of Golgi stacks during mitosis and for their reassembly
    after mitosis. Involved in the formation of the transitional endoplasmic reticulum (tER). The
    transfer of membranes from the endoplasmic reticulum to the Golgi apparatus occurs via 50-70 nm
    transition vesicles which derive from part-rough, part-smooth transitional elements of the
    endoplasmic reticulum (tER). Vesicle budding from the tER is an ATP-dependent process. The ternary
    complex containing UFD1L, VCP and NPLOC4 binds ubiquitinated proteins and is necessary for the
    export of misfolded proteins from the ER to the cytoplasm, where they are degraded by the
    proteasome. The NPLOC4-UFD1L-VCP complex regulates spindle disassembly at the end of mitosis and
    is necessary for the formation of a closed nuclear envelope (By similarity). Regulates E3
    ubiquitin-protein ligase activity of RNF19A

    Genatlas biochemistry entry for VCP:
    valosin-containing protein,bound with high affinity to clathrin

    2 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Vcp):

    lethality-postnatallethality-prenatal/perinatal

    5/6 Gene Ontology (GO) molecular function terms (links to tree view) (see all 6 ):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166 nucleotide binding IEA--
    GO:0005524 ATP binding IC15215856
    GO:0008289 lipid binding IEA--
    GO:0016787 hydrolase activity IEA--
    GO:0016887 ATPase activity TAS15215856
    About this table

    (Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
    Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section


    2 Sigma-Aldrich "Your Favorite Gene" Pathways for  VCP  (Your Favorite Gene powered by Ingenuity) 
     Purine Metabolism
     NRF2-mediated Oxidative Stress Response

       GeneDecks  VCP for the pathways selected above  
    About GeneDecksing

     Gene Network CentralTM Interacting Genes and Proteins Network for  VCP 


    5/60 Interacting proteins for VCP (ENSP000003517773 P550721, 2) via UniProtKB, MINT, and/or STRING (see all 60 )
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NSFL1CQ9UNZ21STRING (score=.992) EBI-355164, EBI-721577
    UBXN4Q925751STRING (score=.894) EBI-355164, EBI-723441
    UBXN6Q9BZV11STRING (score=.939) EBI-355164, EBI-1993899
    WRNQ141911STRING (score=.959) EBI-355164, EBI-368417
    UBCP629882STRING (score=.996) MINT-2837856 MINT-50297
    About this table

    5/11 Gene Ontology (GO) biological process terms (links to tree view) (see all 11 ):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006302 double-strand break repair IDA10855792
    GO:0006810 transport IEA--
    GO:0006919 activation of caspase activity ISS--
    GO:0006974 response to DNA damage stimulus IDA16140914
    GO:0016567 protein ubiquitination NAS15215856
    About this table
    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    Browse drugs & compounds from Enzo Life Sciences
    Browse Small Molecules at Sigma-Aldrich

    Browse Tocris compounds for VCP
    8 Novoseek chemical compound relationships for VCP gene
    Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    ptdins(3)p 47.76 1 12650639 (1)
    atp 38.71 28 12504076 (2), 12473691 (2), 12807884 (2), 12747802 (2) (see all 14)
    adp 35.04 6 12807884 (2), 12504076 (1), 10715114 (1), 18174159 (1)
    calcium 9.77 8 9405427 (1), 8648106 (1), 15306153 (1), 8672553 (1)
    tyrosine 3.87 16 11087817 (4), 12509440 (2), 11086075 (1), 17166906 (1) (see all 7)
    superoxide 0.00 2 17360763 (1), 15456787 (1)
    lipid 0.00 1 10205162 (1)
    threonine 0.00 1 16551632 (1)
    About this table


    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Invitrogen, Millipore, and/or Abnova,
    siRNAs from Applied Biosystems, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene,
    Tagged/untagged cDNA clones from OriGene,
    Expression Assays from Applied Biosystems)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (VCP)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (VCP)
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_007126

                  Sigma-Aldrich siRNA and siRNA Panels for VCP  
                         Sigma-Aldrich shRNA Panels and shRNA for VCP  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_007126  

    REFSEQ mRNAs for VCP gene: 

    NM_007126.3   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_007126  

                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_007126
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_007126
                                     untagged cDNA clone in CMV expression vector: NM_007126 

    Additional cDNA sequence: 

    AF100752.1 AF313486.1 AK307735.1 AK312310.1 AL137377.1 BC007562.1 BC096751.1 BC110913.1 
    BC121794.1 BC122550.1 CR606334.1 Z70768.1 

    24/56 DOTS entries (see all 56 ):

    DT.92461598  DT.100878430  DT.100061017  DT.100878429  DT.121145904  DT.100878422  DT.92475957  DT.92017855 
    DT.91827473  DT.100878435  DT.100878436  DT.121146017  DT.100840391  DT.100878441  DT.92461619  DT.121145929 
    DT.121145989  DT.100716087  DT.99980507  DT.121145950  DT.100039142  DT.95186348  DT.92461603  DT.100878427 

    24/1276 AceView cDNA sequences (see all 1276 ):

    BQ887290 BE042757 BU931926 BM825673 AI367802 BQ772812 BU180377 BE731292 
    BE042688 BU626439 BM818313 BM819082 BM793936 CF125017 BM826861 CA390875 
    BM988820 BX439775 BQ006698 BU553357 BQ890558 BQ647224 CB132350 BG479863 

    highest scoring ESTs for VCP:

    AA172312 AF100752 AI017298 AL045207 AL520921 AL540610 AL554534 AW732580 AW732949 BE241601 

    Unigene Cluster for VCP:

    Valosin-containing protein
    Hs.529782  [show with all ESTs]
    Unigene Representative Sequence: NM_007126


    GeneLoc Exon Structure

    5/7 Alternative Splicing Database (ASD) splice patterns (SP) for VCP (see all 7 )

    ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5a · 5b · 5c ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15a · 15b ^
    SP1:                    -     -     -     -                                                                                                                     
    SP2:                                                                                                                                                            
    SP3:              -     -     -     -     -                                                                                                                     
    SP4:                                                                                                                                                            
    SP5:                    -     -     -     -     -                                                                                                               

    ExUns: 16 ^ 17 ^ 18 ^ 19
    SP1:                        
    SP2:                        
    SP3:                        
    SP4:                        
    SP5:                        

    About this scheme

    ECgene alternative splicing isoforms for VCP

    1 Ensembl transcript including schematic representation:
    ENST00000358901  
    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Expression Assays from Applied Biosystems )
    About This Section

    VCP expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for VCP

    1 / 2 / 3

    7 probe-sets matching VCP gene


    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank

    44058_at2, 3 U95-B 1 1.00 1.00 0.66 0.83 W60953 0.60 1.00 0.82 1

    56348_at2, 3 U95-B 1 1.00 1.00 0.93 1.18 AI017298 0.80 1.00 0.91 1

    33818_at2, 3 U95-A 1 1.00 1.00 0.84 0.98 AC004472 0.20 0.25 0.23 1

    208649_s_at2, 3 U133-A 1 1.00 1.00 -- -- AF100752 0.80 1.00 0.91 1

    208648_at2, 3 U133-A 1 1.00 1.00 -- -- W60953 0.60 1.00 0.82 1

    208649_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    208648_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    About this table
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: TTGTAAAAGG

    SOURCE GeneReport for Unigene cluster: Hs.529782

    Expression variation in blood from EXPOLDB for VCP

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section


    Orthologs for VCP gene from 5/27 species (see all 27 )
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    VCP1   -- valosin-containing protein 93.51(n)
    99.88(a)
    481590  XM_861098.1  XP_866191.1 
    cow
    (Bos taurus)
    VCP1   -- valosin-containing protein 92.8(n)
    99.75(a)
    507345  NM_001034294.1  NP_001029466.1 
    rat
    (Rattus norvegicus)
    Vcp1   -- valosin-containing protein 91.73(n)
    99.88(a)
    116643  NM_053864.2  NP_446316.1 
    mouse
    (Mus musculus)
    Vcp1, 5 4 (23.00 cM)5
    valosin containing protein1, 5 91.4(n)1
    99.88(a)1
    2695231  NM_009503.31  NP_033529.21 
     AC0052595  AI1952255  (see all 69)
    chicken
    (Gallus gallus)
    VCP1   -- valosin-containing protein 84(n)
    99.01(a)
    427410  NM_001044664.1  NP_001038129.1 
    About this table        Species with no ortholog for VCP

    ENSEMBL Gene Tree for VCP
    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

    Paralogs for VCP gene
    SPATA5L12  SPATA52  

    (According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
    About This Section


    10/101 NCBI SNPs in VCP are shown (see all 101 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 67)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 9 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ------------
    rs10533181,2
    A,C,F,H,O35046961(-) CAGGGG/TGTTTC 1 -- ut31 ese36Minor allele frequency- T:0.09EA MN EU WA 2100
    --
    rs115460221,2
    C35047502(-) AGTGCC/TTGAGA 1 P/L mis10--------
    rs10534471,2
    F35046679(-) ATATAG/AAGAGT 1 -- ut31 ese31Minor allele frequency- A:0.06MN 184
    rs340979351,2
    F35052232(-) GCCATC/TGCTCC 1 I/I syn11Minor allele frequency- T:0.03NA 74
    rs20745491,2
    A,C,F,H,O35051503(+) CCTTAT/CGTCTC 1 -- int113Minor allele frequency- C:0.33EA NS NA EU WA 2150
    rs6076711,2
    A,C,F,H,O35052613(+) GAGCAG/AGAGAG 1 -- int18Minor allele frequency- A:0.38NA EA MN EU WA 940
    rs5144921,2
    A,C,F,H,O35052972(+) TATCTT/CACCAT 1 -- int111Minor allele frequency- C:0.37NA EA EU WA 922
    rs22582401,2
    A,C,F,H35050955(+) ACTTAC/TCAAGG 1 -- int19Minor allele frequency- T:0.44EA NA EU WA 2264
    rs6378851,2
    C,F,H,O35054788(+) AATCCA/GAGAAA 1 -- int111Minor allele frequency- G:0.29EU EA WA NA MN 814
    rs6845621,2
    A,C,F,H35050302(+) TATTGT/CAGCTC 1 -- int17Minor allele frequency- C:0.13EA NA EU WA 2064
    About this table

    HapMap Linkage Disequilibrium images for VCP (up to first 250kb)

    (in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
    About This Section

    OMIM: 601023   disorders: 167320  

    UniProtKB/Swiss-Prot: TERA_HUMAN, P55072

  • Defects in VCP are the cause of inclusion body myopathy with early-onset Paget disease and
    frontotemporal dementia (IBMPFD) [MIM:167320]; also known as muscular dystrophy, limb-girdle, with
    Paget disease of bone or pagetoid amyotrophic lateral sclerosis or pagetoid neuroskeletal syndrome
    or lower motor neuron degeneration with Paget-like bone disease. IBMPFD features adult-onset
    proximal and distal muscle weakness (clinically resembling limb girdle muscular dystrophy),
    early-onset Paget disease of bone in most cases and premature frontotemporal dementia
  • 10/28 Novoseek disease relationships for VCP gene (see all 28 )

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    inclusion body myopathy 95.39 43 17935506 (2), 19380227 (2), 15732117 (2), 17457594 (2) (see all 24)
    frontotemporal dementia 88.61 63 17279000 (3), 17457594 (3), 15732117 (3), 17618707 (3) (see all 27)
    myopathy 64.58 24 17763460 (3), 19208399 (2), 16822868 (1), 16199218 (1) (see all 10)
    machado-joseph disease 58.43 4 12351637 (1)
    neurodegenerative diseases 57.29 7 18208395 (2), 12759168 (1), 16317258 (1), 18798739 (1) (see all 6)
    motor neuron disease 57.22 2 12759168 (1)
    dementia 50.73 16 19380227 (2), 12759168 (1), 16932700 (1), 16199218 (1) (see all 11)
    neurodegeneration 50.54 5 11859409 (3), 19237541 (1)
    werner syndrome 46.96 2 17626287 (1), 15037256 (1)
    alzheimers disease 35.58 4 12759168 (1)
    About this table

    GeneTests: VCP
    Inclusion Body Myopathy with Paget Disease of Bone and/or Frontotemporal Dementia

    Human Gene Mutation Database: VCP
    Human Genome Epidemiology Navigator: VCP (1 document)

    (Possibly Related Articles in Doctor's Guide)
    About This Section

    (in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
    About This Section

    10/202 PubMed articles for VCP gene (see all 202 ):
    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

     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, and/or H-InvDB)
    About This Section

    Entrez Gene: 7415 HGNC: 12666 AceView: VCP Ensembl:ENSG00000165280 euGenes: HUgn7415
    ECgene: VCP H-InvDB: VCP
    (According to HUGE)
    About This Section

      --
    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section

    NameDescription
    ATLAS Chromosomes in Cancer entry for VCP Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.genetests.org/query?gene=VCP
    (Available from WIS Yeda, Salk, Tufts)
    About This Section

      --
    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



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