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VCL Gene

protein-coding   GIFtS: 71
GCID: GC10P075757

Vinculin

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(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
vinculin1 2     HEL1142
metavinculin1 2     MVCL2
MV2 3     Epididymis Luminal Protein 1142
CMD1W2 5     Metavinculin3
CMH152 5     

External Ids:    HGNC: 126651   Entrez Gene: 74142   Ensembl: ENSG000000354037   OMIM: 1930655   UniProtKB: P182063   

Export aliases for VCL gene to outside databases

Previous GC identifers: GC10P074712 GC10P074861 GC10P075650 GC10P075102 GC10P075427 GC10P069753


(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 VCL Gene:
Vinculin is a cytoskeletal protein associated with cell-cell and cell-matrix junctions, where it is thought to
function as one of several interacting proteins involved in anchoring F-actin to the membrane. Defects in VCL are
the cause of cardiomyopathy dilated type 1W. Dilated cardiomyopathy is a disorder characterized by ventricular
dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Multiple
alternatively spliced transcript variants have been found for this gene, but the biological validity of some
variants has not been determined. (provided by RefSeq, Jul 2008)

GeneCards Summary for VCL Gene:
VCL (vinculin) is a protein-coding gene. Diseases associated with VCL include cardiomyopathy, familial hypertrophic, 15, and dilated cardiomyopathy. GO annotations related to this gene include actin binding and beta-catenin binding. An important paralog of this gene is CTNNA1.

UniProtKB/Swiss-Prot: VINC_HUMAN, P18206
Function: Actin filament (F-actin)-binding protein involved in cell-matrix adhesion and cell-cell adhesion.
Regulates cell-surface E-cadherin expression and potentiates mechanosensing by the E-cadherin complex. May also
play important roles in cell morphology and locomotion

Gene Wiki entry for VCL (Vinculin) 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_000010.11  NT_030059.14  NC_018921.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the VCL gene promoter:
         NF-1   NF-1/L   RelA   Egr-4   HEN1   FOXC1   TGIF   Pax-4a   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidVCL promoter sequence
   Search Chromatin IP Primers for VCL

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


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

Entrez Gene cytogenetic band: 10q22.2   Ensembl cytogenetic band:  10q22.2   HGNC cytogenetic band: 10q22.1-q23

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

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10P075757:  view genomic region     (about GC identifiers)

Start:
75,757,872 bp from pter      End:
75,879,918 bp from pter
Size:
122,047 bases      Orientation:
plus strand

(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, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: VINC_HUMAN, P18206 (See protein sequence)
Recommended Name: Vinculin  
Size: 1134 amino acids; 123799 Da
Subunit: Exhibits self-association properties. Interacts with APBB1IP, NRAP and SORBS1 (By similarity). Interacts
with TLN1. Interacts with CTNNB1 and this interaction is necessary for its localization to the cell-cell
junctions and for its function in regulating cell surface expression of E-cadherin (By similarity). Interacts
with SYNM
Selected PDB 3D structures from and Proteopedia for VCL (see all 18):
1RKC (3D)        1RKE (3D)        1SYQ (3D)        1TR2 (3D)        1YDI (3D)        2GWW (3D)    
Secondary accessions: Q16450 Q5SWX2 Q7Z3B8 Q8IXU7
Alternative splicing: 3 isoforms:  P18206-1   P18206-2   P18206-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for VCL: NX_P18206

Explore proteomics data for VCL at MOPED

Post-translational modifications: 

  • Phosphorylated; on serines, threonines and tyrosines. Phosphorylation on Tyr-1133 in activated platelets affects
    head-tail interactions and cell spreading but has no effect on actin binding nor on localization to focal
    adhesion plaques (By similarity)1
  • Acetylated; mainly by myristic acid but also by a small amount of palmitic acid (By similarity)1
  • Ubiquitination2 at Lys219, Lys444, Lys464, Lys476, Lys581, Lys699, Lys815
  • Modification sites at PhosphoSitePlus

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

    REFSEQ proteins (2 alternative transcripts): 
    NP_003364.1  NP_054706.1  

    ENSEMBL proteins: 
     ENSP00000361841   ENSP00000415489   ENSP00000211998   ENSP00000411887  
    Reactome Protein details: P18206

    VCL Human Recombinant Protein Products:

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    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for VCL
    OriGene Protein Over-expression Lysate for VCL
    OriGene MassSpec for VCL
    OriGene Custom Protein Services for VCL
    GenScript Custom Purified and Recombinant Proteins Services for VCL
    Novus Biologicals VCL Protein
    Novus Biologicals VCL Lysate
    Sino Biological Recombinant Protein for VCL
    Sino Biological Cell Lysate for VCL
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for VCL

    VCL Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of VCL
    R&D Systems Antibodies for VCL (Vinculin)
    Cell Signaling Technology (CST) Antibodies for VCL  (vinculin)
    OriGene Antibodies for VCL
    OriGene Custom Antibody Services for VCL
    Novus Biologicals VCL Antibodies
    Abcam antibodies for VCL
    Cloud-Clone Corp. Antibodies for VCL
    ThermoFisher Antibody for VCL
    LSBio Antibodies in human, mouse, rat for VCL

    VCL Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for VCL
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for VCL
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for VCL
    Cloud-Clone Corp. CLIAs for VCL


    (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:
     IPR006077 Vinculin/catenin
     IPR000633 Vinculin_CS
     IPR017997 Vinculin

    Graphical View of Domain Structure for InterPro Entry P18206

    ProtoNet protein and cluster: P18206

    UniProtKB/Swiss-Prot: VINC_HUMAN, P18206
    Domain: Exists in at least two conformations. When in the closed, 'inactive' conformation, extensive interactions
    between the head and tail domains prevent detectable binding to most of its ligands. It takes on an 'active'
    conformation after cooperative and simultaneous binding of two different ligands. This activation involves
    displacement of the head-tail interactions and leads to a significant accumulation of ternary complexes. The
    active form then binds a number of proteins that have both signaling and structural roles that are essential for
    cell adhesion
    Domain: The N-terminal globular head (Vh) comprises of subdomains D1-D4. The C-terminal tail (Vt) binds F-actin
    and cross-links actin filaments into bundles. In isoform 2 (metavinculin) a 68 residue insertion in the tail
    domain promotes actin severing instead of bundling. An intramolecular interaction between Vh and Vt masks the
    F-actin-binding domain located in Vt. The binding of talin and alpha-actinin to the D1 subdomain of vinculin
    induces a helical bundle conversion of this subdomain, leading to the disruption of the intramolecular
    interaction and the exposure of the cryptic F-actin-binding domain of Vt. Vt inhibits actin filament barbed end
    elongation without affecting the critical concentration of actin assembly
    Similarity: Belongs to the vinculin/alpha-catenin family


    VCL 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: VINC_HUMAN, P18206
    Function: Actin filament (F-actin)-binding protein involved in cell-matrix adhesion and cell-cell adhesion.
    Regulates cell-surface E-cadherin expression and potentiates mechanosensing by the E-cadherin complex. May also
    play important roles in cell morphology and locomotion

         Genatlas biochemistry entry for VCL:
    vinculin,130kDa,component of adherens type of cell junction (catenin family)

         Gene Ontology (GO): Selected molecular function terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002162dystroglycan binding IPI18341635
    GO:0003779NOT actin binding IDA7816144
    GO:0005198structural molecule activity IEA--
    GO:0005515protein binding IPI10320934
    GO:0008013beta-catenin binding ISS--
         
    VCL for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for VCL:
     Decreased viability of wild-ty 

         10 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Vcl):
     cardiovascular system  cellular  craniofacial  digestive/alimentary  embryogenesis 
     growth/size/body  limbs/digits/tail  mortality/aging  muscle  nervous system 

    VCL for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Vcltm1Eda for VCL

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for VCL
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for VCL

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for VCL
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for VCL

    miRNA
    Products:
        
    miRTarBase miRNAs that target VCL:
    hsa-mir-320a (MIRT044534), hsa-mir-661 (MIRT004114), hsa-mir-559 (MIRT004115), hsa-mir-16-5p (MIRT051181), hsa-mir-222-3p (MIRT046654), hsa-mir-34a-5p (MIRT025522), hsa-mir-125b-5p (MIRT045944), hsa-mir-196a-5p (MIRT048250), hsa-mir-130b-5p (MIRT038322), hsa-mir-320b (MIRT036206)

    Block miRNA regulation of human, mouse, rat VCL using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate VCL (see all 70):
    hsa-miR-300 hsa-miR-106a hsa-miR-3074-3p hsa-miR-93 hsa-miR-376a* hsa-miR-4293 hsa-miR-92b hsa-miR-3612
    SwitchGear 3'UTR luciferase reporter plasmidVCL 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for VCL
    Predesigned siRNA for gene silencing in human, mouse, rat VCL

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for VCL

    Clone
    Products:
         
    OriGene clones in human, mouse for VCL (see all 11)
    OriGene ORF clones in mouse, rat for VCL
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): VCL (NM_014000)
    Sino Biological Human cDNA Clone for VCL
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for VCL
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat VCL

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for VCL
    Browse ESI BIO Cell Lines and PureStem Progenitors for VCL 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for VCL


    (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
    VINC_HUMAN, P18206: Cytoplasm, cytoskeleton. Cell junction, adherens junction. Cell membrane; Peripheral
    membrane protein; Cytoplasmic side. Cell junction, focal adhesion. Note=Cytoplasmic face of adhesion plaques.
    Recruitment to cell-cell junctions occurs in a myosin II-dependent manner. Interaction with CTNNB1 is necessary
    for its localization to the cell-cell junctions (By similarity). Colocalizes with LIMD1 in the focal adhesions
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    plasma membrane5
    cytosol4
    extracellular4
    peroxisome2
    endoplasmic reticulum1
    mitochondrion1
    nucleus1

    Gene Ontology (GO): Selected cellular component terms (see all 16):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005829cytosol TAS--
    GO:0005856cytoskeleton TAS16130169
    GO:0005886plasma membrane IEA--
    GO:0005911cell-cell junction ISS--

    VCL 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 VCL About   (see all 28)  
    See pathways by source

    SuperPathContained pathways About
    1Focal adhesion
    Focal adhesion0.65
    Integrin-mediated cell adhesion0.38
    Focal Adhesion0.65
    2Regulation of actin cytoskeleton
    Regulation of actin cytoskeleton0.57
    Regulation of Actin Cytoskeleton0.57
    3Sertoli-Sertoli Cell Junction Dynamics
    Sertoli-Sertoli Cell Junction Dynamics0.38
    Epithelial Tight Junctions0.36
    Germ Cell-Sertoli Cell Junction Dynamics0.38
    4Cell adhesion Integrin mediated cell adhesion and migration
    Cell adhesion Integrin mediated cell adhesion and migration0.49
    Cytoskeleton remodeling Fibronectin binding integrins in cell motility0.32
    Cytoskeleton remodeling Integrin outside in signaling0.37
    5Response to elevated platelet cytosolic Ca2+
    Response to elevated platelet cytosolic Ca2+0.94
    Platelet degranulation0.94

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for VCL (see all 12)
        MAPK Signaling
    RhoA Pathway
    Sertoli-Sertoli Cell Junction Dynamics
    Paxillin Interactions
    Remodeling of Adherens Junctions

    2 Cell Signaling Technology (CST) Pathways for VCL
        Cytoskeletal Signaling
    Adhesion

    4 GeneGo (Thomson Reuters) Pathways for VCL
        Development VEGF signaling via VEGFR2 - generic cascades
    Cytoskeleton remodeling Integrin outside-in signaling
    Cell adhesion Integrin-mediated cell adhesion and migration
    Cytoskeleton remodeling Fibronectin-binding integrins in cell motility

    Selected BioSystems Pathways for VCL (see all 9)
        Focal Adhesion
    Integrin-mediated cell adhesion
    Regulation of Actin Cytoskeleton
    IL-3 Signaling Pathway
    Signaling events mediated by VEGFR1 and VEGFR2


    2 Reactome Pathways for VCL
        Smooth Muscle Contraction
    Platelet degranulation


    Selected Kegg Pathways  (Kegg details for VCL) (see all 7):
        Focal adhesion
    Adherens junction
    Leukocyte transendothelial migration
    Regulation of actin cytoskeleton
    Bacterial invasion of epithelial cells


    VCL for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including VCL: 
              cAMP / Ca2+ Signaling PathwayFinder in human mouse rat
              Adherens Junctions in human mouse rat
              Focal Adhesions in human mouse rat
              Cell Motility in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for VCL

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

    Selected Interacting proteins for VCL (P182061, 2, 3 ENSP000002119984) via UniProtKB, MINT, STRING, and/or I2D (see all 227)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PRPF40AO754002, 3MINT-61876 I2D: score=3 
    SORBS1Q9BX663, ENSP000003602724I2D: score=3 STRING: ENSP00000360272 STRING: ENSP00000355136
    TRIP6Q156542, 3, ENSP000002004574MINT-68320 I2D: score=6 STRING: ENSP00000200457
    YWHAZP631042, 3, ENSP000003095034MINT-3318937 I2D: score=1 STRING: ENSP00000309503
    C19orf57Q0VDD73, ENSP000002543364I2D: score=4 STRING: ENSP00000254336
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 15):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002009morphogenesis of an epithelium IMP--
    GO:0002576platelet degranulation TAS--
    GO:0006928cellular component movement TAS16130169
    GO:0006936muscle contraction TAS--
    GO:0007155cell adhesion TAS15501673

    VCL 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 VCL (VINC)

    Selected Novoseek inferred chemical compound relationships for VCL gene (see all 60)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    phosphotyrosine 70.2 28 10318759 (2), 12584242 (2), 7507854 (1), 7518470 (1) (see all 25)
    cytochalasin d 62.9 4 1629252 (1), 10096665 (1)
    tyrosine 62 65 15229287 (7), 7691054 (4), 8288618 (2), 9364324 (2) (see all 44)
    phalloidin 60.8 5 11581207 (1), 9224767 (1), 10438068 (1), 8392930 (1) (see all 5)
    swinholide a 55.9 2 9178097 (2)
    cytochalasin 41.8 1 1629252 (1)
    colcemid 41.5 3 9638333 (2), 9118237 (1)
    titanium 38.4 6 15472401 (2), 1722250 (1), 7512646 (1), 17628662 (1)
    pip2 37.9 11 8288618 (4), 9560340 (3), 15037311 (1)
    cytochalasin b 33.8 2 8843917 (1), 2169493 (1)



    VCL for compounds           About GeneDecksing



    (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,
    Conferences by KenesGroup, 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 VCL gene (2 alternative transcripts): 
    NM_003373.3  NM_014000.2  

    Unigene Cluster for VCL:

    Vinculin
    Hs.643896  [show with all ESTs]
    Unigene Representative Sequence: NM_014000
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000372755(uc009xrr.3 uc001jwe.3 uc010qkz.2) ENST00000478896
    ENST00000461383 ENST00000436396 ENST00000472585 ENST00000211998(uc010qky.1 uc001jwd.3)
    ENST00000417648

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat VCL using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate VCL (see all 70):
    hsa-miR-300 hsa-miR-106a hsa-miR-3074-3p hsa-miR-93 hsa-miR-376a* hsa-miR-4293 hsa-miR-92b hsa-miR-3612
    SwitchGear 3'UTR luciferase reporter plasmidVCL 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat VCL
    Clone
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    OriGene ORF clones in mouse, rat for VCL
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): VCL (NM_014000)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for VCL
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat VCL
    Primer
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    OriGene qPCR primer pairs and template standards for VCL
    OriGene qSTAR qPCR primer pairs in human, mouse for VCL
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat VCL
      QuantiTect SYBR Green Assays in human, mouse, rat VCL
      QuantiFast Probe-based Assays in human, mouse, rat VCL

    Additional mRNA sequence: 

    AK055524.1 AK126978.1 AK296509.1 AK300280.1 AK304823.1 AL832130.1 BC013847.1 BC039174.1 
    M33308.1 

    Selected DOTS entries (see all 27):

    DT.91768787  DT.100725860  DT.92411715  DT.91768786  DT.101959960  DT.87008295  DT.95366359  DT.95095432 
    DT.91825146  DT.100030402  DT.95159491  DT.100030408  DT.121291153  DT.97853515  DT.100030403  DT.100827836 
    DT.100827838  DT.100827845  DT.121291034  DT.121291052  DT.121291095  DT.40225418  DT.86846851  DT.91650533 

    Selected AceView cDNA sequences (see all 504):

    BE898551 BG494931 CN482073 BQ898452 AW589920 BM787152 AL048129 BQ218824 
    BI754432 CB116009 AU133247 BM738572 BI768327 BM785643 AU125243 BM737598 
    BX483330 AU125666 BE907176 BG260419 CD172197 AI804658 BU677780 CN483947 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for VCL (see all 12)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12a · 12b ^ 13a · 13b ^ 14a · 14b ^ 15a · 15b ^ 16 ^ 17a · 17b ·
    SP1:              -                                                                                                                                   -         
    SP2:                                                                                                                                                  -         
    SP3:                                                                                                                                                  -         
    SP4:                                                                                                                                                            
    SP5:              -                 -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -                 -         

    ExUns: 17c ^ 18 ^ 19 ^ 20 ^ 21 ^ 22a · 22b ^ 23a · 23b ^ 24a · 24b · 24c · 24d
    SP1:              -           -     -           -                                 
    SP2:              -           -     -           -                                 
    SP3:              -                 -           -                                 
    SP4:                          -     -           -                                 
    SP5:                                                                              


    ECgene alternative splicing isoforms for VCL

    (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)
    About This Section

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    VCL expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTTGCTCTCC
    VCL Expression
    About this image


    VCL expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 19) fully expand
     
     Smooth Muscle (Muscoskeletal System)    fully expand to see all 5 entries
             Vascular Smooth Muscle Cells Aortic Arch Arteries
             Lateral plate mesoderm-derived smooth muscle cells
     
     Endothelium (Cardiovascular System)    fully expand to see all 3 entries
             Vascular Smooth Muscle Cells Veins
             Endothelial-like cells
     
     Lateral Plate Mesoderm (Gastrulation Derivatives)
             Vascular Smooth Muscle Cells Splanchnic Mesoderm
     
     Heart (Cardiovascular System)
             Vascular Smooth Muscle Cells Aortic Arch Arteries
     
     Gonad (Reproductive System)
             Primordial Germ Cells Primitive Gonad
    VCL Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    VCL Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.643896

    UniProtKB/Swiss-Prot: VINC_HUMAN, P18206
    Tissue specificity: Metavinculin is muscle-specific

        Pathway & Disease-focused RT2 Profiler PCR Arrays including VCL: 
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              Cell Motility in human mouse rat

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    (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)
    About This Section

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    This gene was present in the common ancestor of animals.

    Orthologs for VCL gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Vcl1 , 5 vinculin1, 5 89.99(n)1
    96.62(a)1
      14 (11.53 cM)5
    223301  NM_009502.41  NP_033528.31 
     209294335 
    chicken
    (Gallus gallus)
    Aves VCL1 vinculin 80.33(n)
    92.59(a)
      396422  NM_205441.1  NP_990772.1 
    lizard
    (Anolis carolinensis)
    Reptilia VCL6
    vinculin
    93(a)
    1 ↔ 1
    GL343196.1(1936220-2038227)
    African clawed frog
    (Xenopus laevis)
    Amphibia vcl-A2 vinculin/metavinculin 76.34(n)    Z19541.1 
    zebrafish
    (Danio rerio)
    Actinopterygii vcla1 vinculin a 76.15(n)
    86.13(a)
      552980  NM_001128681.1  NP_001122153.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Vinc3 cytoskeletal anchoring actin binding 37(a)     --
    worm
    (Caenorhabditis elegans)
    Secernentea deb-13   -- 39(a)   IV(7085876-7094454)   --


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for VCL gene
    CTNNA12  CTNNA22  CTNNA32  CTNNAL12  

    VCL for paralogs           About GeneDecksing



    (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 VCL (see all 2331)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0351054
    Cardiomyopathy, dilated 1W (CMD1W)4--see VAR_0351052 R W mis40--------
    VAR_0351014
    Cardiomyopathy, familial hypertrophic 15 (CMH15)4--see VAR_0351012 L M mis40--------
    rs563143181,2
    C,Fnon-pathogenic176203631(+) TCAAGG/AGGCAT 4 /R syn17Minor allele frequency- A:0.07NS WA CSA NA EU 6071
    rs564135291,2
    C,Fnon-pathogenic176207750(+) GAAGAT/CGCCTG 4 /D syn17Minor allele frequency- C:0.07NS WA CSA NA EU 6049
    rs715793531,2
    Cpathogenic176215361(+) CCAAAA/CTGAAC 4 M L mis10--------
    rs1219177761,2
    Cpathogenic176244952(+) TGCATC/TGGGAA 3 R W mis1 int10--------
    rs1407668841,2
    C,Fprobable-non-pathogenic176236686(+) CAGGTG/AGTCTC 4 /V syn12Minor allele frequency- A:0.00NA EU 5873
    rs1393123901,2
    C,Funknown176207670(+) AAAATC/TGCAAT 4 R C mis12Minor allele frequency- T:0.00NA EU 5701
    rs1418911051,2
    C--69772816(+) GTGTG-/TATG  
      TGTATA
    TATTA
    2 -- int10--------
    rs714825621,2
    C--69779719(+) AAAAA-/A/AA  
            
    GACTT
    2 -- int11NA 2

    HapMap Linkage Disequilibrium report for VCL (75757872 - 75879918 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for VCL:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv25246CNV Loss16902084

    Human Gene Mutation Database (HGMD): VCL
    Site Specific Mutation Identification with PCR Assays
    1 Copy Number PCR Panel containing VCL:
    Prostate Cancer
    SeqTarget long-range PCR primers for resequencing VCL
    DNA2.0 Custom Variant and Variant Library Synthesis for VCL

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 193065   
    OMIM disorders: 611407  613255  
    UniProtKB/Swiss-Prot: VINC_HUMAN, P18206
  • Cardiomyopathy, dilated 1W (CMD1W) [MIM:611407]: A disorder characterized by ventricular dilation and
    impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of
    premature death. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Cardiomyopathy, familial hypertrophic 15 (CMH15) [MIM:613255]: A hereditary heart disorder characterized
    by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The
    symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by
    exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high
    risk of cardiac failure and sudden cardiac death. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • Selected diseases for VCL (see all 64):    
    About MalaCards
    cardiomyopathy, familial hypertrophic, 15    dilated cardiomyopathy    cardiomyopathy, dilated, 1w    coronary arteriosclerosis
    shigellosis    vcl-related dilated cardiomyopathy    congestive heart failure    quebec platelet disorder
    sarcoglycanopathies    hailey-hailey disease    becker muscular dystrophy    phyllode tumor
    pemphigus vulgaris    neuromuscular disease    pemphigus    arteriosclerosis
    leiomyosarcoma    acute monocytic leukemia    hypertrophic cardiomyopathy    familial hypertrophic cardiomyopathy

    2 diseases from the University of Copenhagen DISEASES database for VCL:
    Dilated cardiomyopathy     Cancer

    VCL for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    Selected Novoseek inferred disease relationships for VCL gene (see all 42)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    dilated cardiomyopathy 41.5 17 8712941 (3), 11815424 (2), 7774871 (1), 16236538 (1) (see all 11)
    muscular dystrophy becker 38.7 1 9466596 (1)
    shigellosis 23.7 2 10021367 (1), 9298981 (1)
    muscular dystrophy duchenne 18.3 1 1513465 (1)
    darier disease 17.7 1 7537767 (1)
    cardiomyopathy 16.8 3 16236538 (1), 20502710 (1), 16712796 (1)
    metastasis 11.8 8 9385927 (2), 19916745 (2), 19714817 (1), 8639463 (1) (see all 5)
    hypertrophy 11.6 4 16949038 (1)
    pemphigus vulgaris 11 1 18327013 (1)
    melanoma 4.72 1 8221907 (1)

    GeneTests: VCL
    GeneReviews: VCL
    Genetic Association Database (GAD): VCL
    Human Genome Epidemiology (HuGE) Navigator: VCL (9 documents)

    Export disorders for VCL 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 VCL gene, integrated from 10 sources (see all 641):
    (articles sorted by number of sources associating them with VCL)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. An additional exon in the human vinculin gene specifically encodes meta-vinculin-specific difference peptide. Cross-species comparison reveals variable and conserved motifs in the meta-vinculin insert. (PubMed id 1339348)1, 2, 3 Koteliansky V.E.... Small J.V. (Eur. J. Biochem. 1992)
    2. The phosphorylation of vinculin on tyrosine residues 100 and 1065, mediated by SRC kinases, affects cell spreading. (PubMed id 15229287)1, 2, 9 Zhang Z....Haimovich B. (Mol. Biol. Cell 2004)
    3. Human alpha-synemin interacts directly with vinculin and metavinculin. (PubMed id 18028034)1, 2, 9 Sun N.... Robson R.M. (Biochem. J. 2008)
    4. Identification of a metavinculin missense mutation, R975W, associated with both hypertrophic and dilated cardiomyopathy. (PubMed id 16236538)1, 2, 9 Vasile V.C....Ackerman M.J. (Mol. Genet. Metab. 2006)
    5. A missense mutation in a ubiquitously expressed protein, vinculin, confers susceptibility to hypertrophic cardiomyopathy. (PubMed id 16712796)1, 2, 9 Vasile V.C.... Ackerman M.J. (Biochem. Biophys. Res. Commun. 2006)
    6. Structural basis for amplifying vinculin activation by talin. (PubMed id 15070891)1, 2, 9 Izard T. and Vonrhein C. (J. Biol. Chem. 2004)
    7. Vinculin activation by talin through helical bundle conversion. (PubMed id 14702644)1, 2, 9 Izard T.... Bois P.R.J. (Nature 2004)
    8. Complete sequence of human vinculin and assignment of the gene to chromosome 10. (PubMed id 2116004)1, 2, 9 Weller P.A.... Critchley D.R. (Proc. Natl. Acad. Sci. U.S.A. 1990)
    9. Organization of the human gene encoding the cytoskeletal protein vinculin and the sequence of the vinculin promoter. (PubMed id 8440716)1, 2, 9 Moiseyeva E.P.... Critchley D.R. (J. Biol. Chem. 1993)
    10. The C-terminal tail domain of metavinculin, vinculin's splice variant, severs actin filaments. (PubMed id 22613835)1, 2 Janssen M.E.... Hanein D. (J. Cell Biol. 2012)

    (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: 7414 HGNC: 12665 AceView: VCL Ensembl:ENSG00000035403 euGenes: HUgn7414
    ECgene: VCL Kegg: 7414 H-InvDB: VCL

    (According to HUGE)
    About This Section

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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)
    About This Section

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    NameDescription
    PharmGKB entry for VCL Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for VCL Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=VCL[genesymbol]
    Wikipedia http://en.wikipedia.org/wiki/Vinculin

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

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



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