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Aliases for VCL Gene

Aliases for VCL Gene

  • Vinculin 2 3 5
  • Metavinculin 2 3 4
  • MV 3 4
  • Epididymis Luminal Protein 114 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 Platelet activation, signaling and aggregation and Sertoli-Sertoli Cell Junction Dynamics. GO annotations related to this gene include actin binding and ubiquitin protein ligase binding. An important paralog of this gene is CTNNA3.

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

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, 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.

    Three dimensional structures from OCA and Proteopedia for VCL Gene

    Alternative splice isoforms for VCL Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for VCL Gene

Proteomics data for VCL Gene at MOPED

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

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for VCL (Vinculin)

No data available for DME Specific Peptides for VCL Gene

Domains & Families for VCL Gene

Protein Domains for VCL Gene

InterPro:
ProtoNet:

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:0008013 beta-catenin binding ISS 20086044
GO:0051015 actin filament binding IEA --
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

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:0005576 extracellular region TAS --
GO:0005623 cell ISS --
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton TAS 16130169
GO:0005886 plasma membrane ISS --
genes like me logo Genes that share ontologies with VCL: view

Pathways & Interactions for VCL Gene

SuperPathways for VCL Gene

Superpath Contained pathways
1 Interleukin-3, 5 and GM-CSF signaling
2 Platelet activation, signaling and aggregation
3 Sertoli-Sertoli Cell Junction Dynamics
4 Focal Adhesion
5 Signaling by GPCR
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:0007155 cell adhesion IEA,TAS 15501673
GO:0030032 lamellipodium assembly IEA,ISS --
GO:0030336 negative regulation of cell migration TAS 15494027
GO:0043297 apical junction assembly IMP 9700171
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

(27) Drugs for VCL Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(33) 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:

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 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, MOPED, and MaxQB for VCL Gene



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

Protein tissue co-expression partners for VCL Gene

- Elite partner

Primer Products

In Situ Assay 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
cow
(Bos Taurus)
Mammalia VCL 35
  • 94.3 (n)
  • 99.12 (a)
VCL 36
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia VCL 35
  • 94.18 (n)
  • 98.84 (a)
VCL 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Vcl 35
  • 89.99 (n)
  • 96.62 (a)
Vcl 16
Vcl 36
  • 99 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia VCL 35
  • 99.88 (n)
  • 100 (a)
VCL 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Vcl 35
  • 89.02 (n)
  • 96.25 (a)
oppossum
(Monodelphis domestica)
Mammalia VCL 36
  • 98 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 78 (a)
OneToMany
-- 36
  • 87 (a)
OneToMany
chicken
(Gallus gallus)
Aves VCL 35
  • 80.33 (n)
  • 92.59 (a)
VCL 36
  • 93 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia VCL 36
  • 93 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.10749 35
vcl 35
  • 75.34 (n)
  • 87.14 (a)
African clawed frog
(Xenopus laevis)
Amphibia vcl-A 35
zebrafish
(Danio rerio)
Actinopterygii vcla 35
  • 76.15 (n)
  • 86.13 (a)
vcla 36
  • 86 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12305 35
fruit fly
(Drosophila melanogaster)
Insecta Vinc 37
  • 37 (a)
Vinc 36
  • 48 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea deb-1 37
  • 39 (a)
deb-1 36
  • 45 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.10978 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 47 (a)
OneToOne
Species with no ortholog for VCL:
  • 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
VAR_035101 Cardiomyopathy, familial hypertrophic 15 (CMH15)
rs16931179 - 74,111,964(+) TGCGG(C/T)CGATG intron-variant, reference, missense
VAR_035103 -
VAR_035105 Cardiomyopathy, dilated 1W (CMD1W)
rs17853882 - 74,074,820(+) TTACT(C/G)TAGAA reference, missense

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

Variant ID Type Subtype PubMed ID
nsv25246 CNV Loss 16902084

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

HapMap Linkage Disequilibrium report
VCL
Human Gene Mutation Database (HGMD)
VCL

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

Disorders for VCL Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
cardiomyopathy, dilated, 1w
  • cmd1w
cardiomyopathy, hypertrophic, 15
  • cardiomyopathy, familial hypertrophic, 15
vcl-related dilated cardiomyopathy
  • cardiomyopathy, dilated, 1w
vcl-related familial hypertrophic cardiomyopathy
  • cardiomyopathy, familial hypertrophic, 15
dilated cardiomyopathy
  • congestive 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. 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. (PMID: 1339348) Koteliansky V.E. … Small J.V. (Eur. J. Biochem. 1992) 2 3 4 67
  2. Focal adhesion kinase-dependent regulation of adhesive forces involves vinculin recruitment to focal adhesions. (PMID: 19883375) Dumbauld D.W. … GarcA-a A.J. (Biol. Cell 2010) 3 23
  3. Vinculin regulates cell-surface E-cadherin expression by binding to beta-catenin. (PMID: 20086044) Peng X. … DeMali K.A. (J. Cell. Sci. 2010) 3 23
  4. A helix replacement mechanism directs metavinculin functions. (PMID: 20502710) Rangarajan E.S. … Izard T. (PLoS ONE 2010) 3 23
  5. Vinculin and cellular retinol-binding protein-1 are markers for quiescent and activated hepatic stellate cells in formalin-fixed paraffin embedded human liver. (PMID: 19052772) Van Rossen E. … Geerts A. (Histochem. Cell Biol. 2009) 3 23

Products for VCL Gene

Sources for VCL Gene

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