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Aliases for VCL Gene

Aliases for VCL Gene

  • Vinculin 2 3 3 5
  • Metavinculin 2 3 4
  • MV 3 4
  • Epididymis Luminal Protein 114 3
  • Meta-Vinculin 3
  • HEL114 3
  • CMD1W 3
  • CMH15 3
  • MVCL 3

External Ids for VCL Gene

Previous GeneCards Identifiers for VCL Gene

  • GC10P074712
  • GC10P074861
  • GC10P075650
  • GC10P075102
  • GC10P075427
  • GC10P075757
  • GC10P069753

Summaries for VCL Gene

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, Dilated, 1W and Cardiomyopathy, Hypertrophic, 15. Among its related pathways are RET signaling and Arrhythmogenic right ventricular cardiomyopathy (ARVC). GO annotations related to this gene include actin binding and ubiquitin protein ligase binding. An important paralog of this gene is CTNNA2.

UniProtKB/Swiss-Prot for VCL Gene

  • 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 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for VCL Gene

Genomics for VCL Gene

Regulatory Elements for VCL Gene

Enhancers for VCL Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH10F074054 0.8 Ensembl ENCODE 16.3 +61.8 61845 4.7 BMI1 RAD21 ZBTB40 ZEB1 GATA2 SCRT2 RCOR1 ETV6 CREM SMARCA5 ADK VCL C10orf55 CAMK2G ENSG00000229990 GC10P074056 GC10M074121
GH10F073974 0.8 ENCODE 12.9 -20.7 -20664 0.4 ARID1B HDAC1 ZNF318 ESRRA KDM1A VCL PLAU C10orf55 CAMK2G ENSG00000229990 GC10M073941
GH10F073975 1 Ensembl 12.9 -21.1 -21093 0.2 KLF11 ATF1 MXD4 ZMYM3 DMAP1 ZNF48 SLC30A9 KLF16 RFXANK CREB1 VCL PLAU C10orf55 CAMK2G ENSG00000229990 GC10M073941
GH10F073964 1.3 VISTA FANTOM5 Ensembl ENCODE 12.9 -28.0 -27994 6.2 PKNOX1 SIN3A FEZF1 ZNF2 ETS1 YY1 GTF3C2 GLIS2 FOS SP3 GLUD1P3 ENSG00000272140 DUSP8P5 BMS1P4 AP3M1 ENSG00000242288 ECD ZSWIM8 RPL17P50 DNAJC9
GH10F074028 1.3 Ensembl ENCODE 12.6 +34.3 34267 1.2 HDGF PKNOX1 ATF1 DMAP1 YY1 NFYC MXD4 ZHX2 MIER2 PPARG DNAJC9 VCL C10orf55 CAMK2G ENSG00000229990 RPL26P6 ENSG00000225761 GC10P074056
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around VCL on UCSC Golden Path with GeneCards custom track

Genomic Location for VCL Gene

Chromosome:
10
Start:
73,995,193 bp from pter
End:
74,121,363 bp from pter
Size:
126,171 bases
Orientation:
Plus strand

Genomic View for VCL Gene

Genes around VCL on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
VCL Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for VCL Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for VCL Gene

Proteins for VCL Gene

  • Protein details for VCL Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P18206-VINC_HUMAN
    Recommended name:
    Vinculin
    Protein Accession:
    P18206
    Secondary Accessions:
    • Q16450
    • Q5SWX2
    • Q7Z3B8
    • Q8IXU7

    Protein attributes for VCL Gene

    Size:
    1134 amino acids
    Molecular mass:
    123799 Da
    Quaternary structure:
    • Exhibits self-association properties. Interacts with APBB1IP and NRAP (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. Interacts with SORBS1 (By similarity). Interacts with CTNNA1 (PubMed:26691986).

    Three dimensional structures from OCA and Proteopedia for VCL Gene

    Alternative splice isoforms for VCL Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for VCL Gene

Post-translational modifications for VCL Gene

  • Acetylated; mainly by myristic acid but also by a small amount of palmitic acid.
  • 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).
  • Ubiquitination at Lys 219, Lys 444, Lys 464, Lys 476, and Lys 815
  • Modification sites at PhosphoSitePlus

Other Protein References for VCL Gene

No data available for DME Specific Peptides for VCL Gene

Domains & Families for VCL Gene

Protein Domains for VCL Gene

Suggested Antigen Peptide Sequences for VCL Gene

Graphical View of Domain Structure for InterPro Entry

P18206

UniProtKB/Swiss-Prot:

VINC_HUMAN :
  • 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.
  • Belongs to the vinculin/alpha-catenin family.
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.
  • 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.
Family:
  • Belongs to the vinculin/alpha-catenin family.
genes like me logo Genes that share domains with VCL: view

No data available for Gene Families for VCL Gene

Function for VCL Gene

Molecular function for VCL Gene

GENATLAS Biochemistry:
vinculin,130kDa,component of adherens type of cell junction (catenin family)
UniProtKB/Swiss-Prot 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 Ontology (GO) - Molecular Function for VCL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002162 dystroglycan binding IPI 18341635
GO:0003779 NOT actin binding IDA 7816144
GO:0005198 structural molecule activity IEA --
GO:0005515 protein binding IPI 9054445
GO:0008013 beta-catenin binding ISS 20086044
genes like me logo Genes that share ontologies with VCL: view
genes like me logo Genes that share phenotypes with VCL: view

Human Phenotype Ontology for VCL Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for VCL Gene

MGI Knock Outs for VCL:

Animal Model Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for VCL

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for VCL Gene

Localization for VCL Gene

Subcellular locations from UniProtKB/Swiss-Prot for VCL Gene

Cell membrane; Peripheral membrane protein; Cytoplasmic side. Cell junction, adherens junction. Cell junction, focal adhesion. Cytoplasm, cytoskeleton. Note=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. {ECO:0000250 UniProtKB:P12003}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for VCL Gene COMPARTMENTS Subcellular localization image for VCL gene
Compartment Confidence
cytoskeleton 5
cytosol 5
extracellular 5
plasma membrane 4
nucleus 2
peroxisome 2
endoplasmic reticulum 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for VCL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002102 podosome IEA --
GO:0005576 extracellular region TAS --
GO:0005623 cell ISS --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with VCL: view

Pathways & Interactions for VCL Gene

SuperPathways for VCL Gene

SuperPathway Contained pathways
1 RET signaling
2 Response to elevated platelet cytosolic Ca2+
3 Focal Adhesion
4 Sertoli-Sertoli Cell Junction Dynamics
5 Regulation of actin cytoskeleton
genes like me logo Genes that share pathways with VCL: view

Gene Ontology (GO) - Biological Process for VCL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002009 morphogenesis of an epithelium IMP 20086044
GO:0002576 platelet degranulation TAS --
GO:0006928 movement of cell or subcellular component TAS 16130169
GO:0006936 muscle contraction TAS --
GO:0007155 cell adhesion TAS 15501673
genes like me logo Genes that share ontologies with VCL: view

No data available for SIGNOR curated interactions for VCL Gene

Drugs & Compounds for VCL Gene

(30) Drugs for VCL Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(30) Additional Compounds for VCL Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with VCL: view

Transcripts for VCL Gene

Unigene Clusters for VCL Gene

Vinculin:
Representative Sequences:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for VCL

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for VCL Gene

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: - - - - - - - - - - - - - - - - - - -
SP6: - - -
SP7: - - - - - - - - - - - - - - -
SP8: - - - - - - - - - -
SP9:
SP10: - - -
SP11:
SP12:

ExUns: 17c ^ 18 ^ 19 ^ 20 ^ 21 ^ 22a · 22b ^ 23a · 23b ^ 24a · 24b · 24c · 24d
SP1: - - - -
SP2: - - - -
SP3: - - -
SP4: - - -
SP5:
SP6:
SP7:
SP8:
SP9: -
SP10:
SP11:
SP12:

Relevant External Links for VCL Gene

GeneLoc Exon Structure for
VCL
ECgene alternative splicing isoforms for
VCL

Expression for VCL Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for VCL Gene

Protein differential expression in normal tissues from HIPED for VCL Gene

This gene is overexpressed in Platelet (7.6) and Seminal vesicle (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for VCL Gene



Protein tissue co-expression partners for VCL Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of VCL Gene:

VCL

SOURCE GeneReport for Unigene cluster for VCL Gene:

Hs.643896

mRNA Expression by UniProt/SwissProt for VCL Gene:

P18206-VINC_HUMAN
Tissue specificity: Metavinculin is muscle-specific.
genes like me logo Genes that share expression patterns with VCL: view

Primer Products

No data available for mRNA differential expression in normal tissues for VCL Gene

Orthologs for VCL Gene

This gene was present in the common ancestor of animals.

Orthologs for VCL Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia VCL 34 35
  • 99.88 (n)
oppossum
(Monodelphis domestica)
Mammalia VCL 35
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia VCL 34 35
  • 94.3 (n)
dog
(Canis familiaris)
Mammalia VCL 34 35
  • 94.18 (n)
mouse
(Mus musculus)
Mammalia Vcl 34 16 35
  • 89.99 (n)
rat
(Rattus norvegicus)
Mammalia Vcl 34
  • 89.02 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 87 (a)
OneToMany
-- 35
  • 78 (a)
OneToMany
chicken
(Gallus gallus)
Aves VCL 34 35
  • 80.33 (n)
lizard
(Anolis carolinensis)
Reptilia VCL 35
  • 93 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia vcl 34
  • 75.34 (n)
Str.10749 34
African clawed frog
(Xenopus laevis)
Amphibia vcl-A 34
zebrafish
(Danio rerio)
Actinopterygii vcla 34 35
  • 76.15 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12305 34
fruit fly
(Drosophila melanogaster)
Insecta Vinc 36 35
  • 37 (a)
worm
(Caenorhabditis elegans)
Secernentea deb-1 36 35
  • 39 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 47 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.10978 34
Species where no ortholog for VCL was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for VCL Gene

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

Paralogs for VCL Gene

Paralogs for VCL Gene

genes like me logo Genes that share paralogs with VCL: view

Variants for VCL Gene

Sequence variations from dbSNP and Humsavar for VCL Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
rs121917776 Cardiomyopathy, dilated 1W (CMD1W) [MIM:611407], Pathogenic 74,112,086(+) TGCAT(C/T)GGGAA intron-variant, reference, missense
rs71579353 Cardiomyopathy, familial hypertrophic 15 (CMH15) [MIM:613255], Pathogenic 74,082,499(+) CCAAA(A/C)TGAAC intron-variant, reference, missense
rs397517234 Likely pathogenic 74,095,751(+) GTGAC(C/T)GAGTG reference, stop-gained
rs397517237 Likely pathogenic 74,112,025(+) CTGCT(-/GTT)AATGC intron-variant, cds-indel
rs397517239 Likely pathogenic 74,070,743(+) CTGCT(C/T)GAGAT reference, stop-gained

Structural Variations from Database of Genomic Variants (DGV) for VCL Gene

Variant ID Type Subtype PubMed ID
dgv924n100 CNV gain 25217958
esv3623822 CNV loss 21293372
nsv25246 CNV deletion 16902084
nsv551527 CNV gain 21841781

Variation tolerance for VCL Gene

Residual Variation Intolerance Score: 9.78% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.88; 59.04% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for VCL Gene

Human Gene Mutation Database (HGMD)
VCL
SNPedia medical, phenotypic, and genealogical associations of SNPs for
VCL

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for VCL Gene

Disorders for VCL Gene

MalaCards: The human disease database

(23) MalaCards diseases for VCL Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
cardiomyopathy, dilated, 1w
  • dilated cardiomyopathy 1w
cardiomyopathy, hypertrophic, 15
  • hypertrophic cardiomyopathy 15
vcl-related dilated cardiomyopathy
  • cardiomyopathy, dilated, 1w
vcl-related familial hypertrophic cardiomyopathy
  • cardiomyopathy, familial hypertrophic, 15
familial isolated dilated cardiomyopathy
  • familial or idiopathic dilated cardiomyopathy
- elite association - COSMIC cancer census association via MalaCards
Search VCL in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

VINC_HUMAN
  • 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. {ECO:0000269 PubMed:11815424, ECO:0000269 PubMed:16236538}. 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. {ECO:0000269 PubMed:16712796}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for VCL

Genetic Association Database (GAD)
VCL
Human Genome Epidemiology (HuGE) Navigator
VCL
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
VCL
genes like me logo Genes that share disorders with VCL: view

No data available for Genatlas for VCL Gene

Publications for VCL Gene

  1. Human alpha-synemin interacts directly with vinculin and metavinculin. (PMID: 18028034) Sun N. … Robson R.M. (Biochem. J. 2008) 3 4 22 64
  2. Identification of a metavinculin missense mutation, R975W, associated with both hypertrophic and dilated cardiomyopathy. (PMID: 16236538) Vasile V.C. … Ackerman M.J. (Mol. Genet. Metab. 2006) 3 4 22 64
  3. A missense mutation in a ubiquitously expressed protein, vinculin, confers susceptibility to hypertrophic cardiomyopathy. (PMID: 16712796) Vasile V.C. … Ackerman M.J. (Biochem. Biophys. Res. Commun. 2006) 3 4 22 64
  4. Vinculin activation by talin through helical bundle conversion. (PMID: 14702644) Izard T. … Bois P.R.J. (Nature 2004) 3 4 22 64
  5. Structural basis for amplifying vinculin activation by talin. (PMID: 15070891) Izard T. … Vonrhein C. (J. Biol. Chem. 2004) 3 4 22 64

Products for VCL Gene

  • Addgene plasmids for VCL

Sources for VCL Gene

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