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, res... See more...

Aliases for VCL Gene

Aliases for VCL Gene

  • Vinculin 2 3 4 5
  • Metavinculin 2 3 4
  • MV 3 4
  • Epididymis Secretory Sperm Binding Protein 3
  • 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, Familial Hypertrophic, 15. Among its related pathways are RET signaling and Innate Immune System. Gene Ontology (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 Summary 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

Additional gene information for VCL Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for VCL Gene

Genomics for VCL Gene

GeneHancer (GH) Regulatory Elements for VCL Gene

Promoters and enhancers for VCL Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10J073996 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 510.5 +4.4 4358 5.3 HNRNPK CTCF ZSCAN5C SIN3A TCF12 NRF1 POLR2G SP1 GTF2E2 PHF8 VCL GLUD1P3 ECD SEC24C DUSP8P5 AP3M1 ZSWIM8-AS1 ZSWIM8 ENSG00000272140 RPL17P50
GH10J073729 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 511.9 -264.6 -264639 3.5 FOXK2 ZBTB40 ZNF217 EP300 ZSCAN5C SIN3A NRF1 TCF12 POLR2G SP1 VCL DUSP8P5 BMS1P4 BMS1P4-AGAP5 ENSG00000271816 GLUD1P3 lnc-SEC24C-3 FUT11 FAM149B1 PLAU
GH10J073994 Promoter/Enhancer 0.9 Ensembl dbSUPER 500.7 -0.8 -792 0.4 BCOR CHAMP1 HLTF ZBTB33 LARP7 NCOR1 HDGF ARHGAP35 ZNF24 ZBTB2 VCL ADK RF00017-704
GH10J073995 Enhancer 0.6 dbSUPER 500.7 -0.1 -52 1.1 IRF1 ZFHX2 HLTF EGR1 PRDM6 GLIS1 LARP7 NCOR1 RLF HDGF VCL RF00017-704
GH10J074174 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 20 +181.8 181845 5.5 ZBTB40 EP300 SIN3A NRF1 TCF12 MYC POLR2G USF1 GTF2E2 PHF8 ADK NONHSAG006243.2 AP3M1 VCL ENSG00000227540 ENSG00000272791 CFAP70 piR-48799-016
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around VCL on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for VCL

Top Transcription factor binding sites by QIAGEN in the VCL gene promoter:
  • Egr-4
  • FOXC1
  • HEN1
  • NF-1
  • NF-1/L
  • NF-kappaB1
  • Pax-4a
  • RelA
  • TGIF

Genomic Locations for VCL Gene

Genomic Locations for VCL Gene
chr10:73,995,193-74,121,363
(GRCh38/hg38)
Size:
126,171 bases
Orientation:
Plus strand
chr10:75,757,872-75,879,918
(GRCh37/hg19)
Size:
122,047 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). Binds to ACTN4; this interaction triggers conformational changes (PubMed:15988023).

    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

  • 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).
  • Acetylated; mainly by myristic acid but also by a small amount of palmitic acid.
  • Ubiquitination at Lys219, Lys444, Lys464, Lys476, Lys581, Lys699, and Lys815
  • Modification sites at PhosphoSitePlus

Other Protein References for VCL Gene

Antibody Products

Protein Products

No data available for DME Specific Peptides for VCL Gene

Domains & Families for VCL Gene

Gene Families for VCL Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for VCL Gene

Suggested Antigen Peptide Sequences for VCL Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ53006, highly similar to Vinculin (B4DTM7_HUMAN)
  • Vinculin (Q5JQ13_HUMAN)
  • Metavinculin (VINC_HUMAN)

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

Function for VCL Gene

Molecular function for VCL Gene

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.
GENATLAS Biochemistry:
vinculin,130kDa,component of adherens type of cell junction (catenin family)

Phenotypes From GWAS Catalog for VCL Gene

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:
  • Vcl Vcl<tm1Eda>

Animal Model Products

CRISPR Products

Clone Products

  • Addgene plasmids for VCL

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. Cell membrane, sarcolemma; Peripheral membrane protein; Cytoplasmic side. 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for VCL gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytoskeleton 5
cytosol 5
nucleus 3
mitochondrion 2
peroxisome 2
endoplasmic reticulum 2
endosome 2
lysosome 2
golgi apparatus 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Focal adhesion sites (4)
See all subcellular structures

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

PathCards logo

SuperPathways for VCL Gene

SuperPathway Contained pathways
1 RET signaling
2 Paradoxical activation of RAF signaling by kinase inactive BRAF
3 Response to elevated platelet cytosolic Ca2+
4 Focal Adhesion
5 Sertoli-Sertoli Cell Junction Dynamics
.38
.38
.36
genes like me logo Genes that share pathways with VCL: view

Pathways by source for VCL Gene

4 GeneGo (Thomson Reuters) pathways for VCL Gene
  • Cell adhesion Integrin-mediated cell adhesion and migration
  • Cytoskeleton remodeling Fibronectin-binding integrins in cell motility
  • Cytoskeleton remodeling Integrin outside-in signaling
  • Development VEGF signaling via VEGFR2 - generic cascades
12 Qiagen pathways for VCL Gene
  • Calpain Protease Regulates Cellular Mechanics
  • Epithelial Adherens Junctions
  • Epithelial Tight Junctions
  • FAK1 Signaling
  • Fc-GammaR-Mediated Phagocytosis in Macrophages
2 Cell Signaling Technology pathways for VCL Gene

SIGNOR curated interactions for VCL Gene

Is inactivated by:
Other effect:

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:0006936 muscle contraction TAS --
GO:0007155 cell adhesion TAS 15501673
GO:0007160 cell-matrix adhesion TAS 20086044
genes like me logo Genes that share ontologies with VCL: view

Drugs & Compounds for VCL Gene

(34) Drugs for VCL Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(26) 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

mRNA/cDNA for VCL Gene

2 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

  • Addgene plasmids for VCL

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

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, MaxQB, and MOPED for VCL Gene



Protein tissue co-expression partners for VCL Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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.

Evidence on tissue expression from TISSUES for VCL Gene

  • Blood(5)
  • Heart(5)
  • Liver(4.9)
  • Eye(4.8)
  • Gall bladder(4.6)
  • Nervous system(4.5)
  • Intestine(4.3)
  • Lung(4)
  • Adrenal gland(3.8)
  • Kidney(3.8)
  • Pancreas(3.6)
  • Muscle(3.5)
  • Bone(3.2)
  • Skin(2.6)
  • Spleen(2.4)
  • Bone marrow(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for VCL Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • nervous
  • respiratory
  • skeletal muscle
Regions:
Head and neck:
  • brain
  • ear
  • head
Thorax:
  • heart
  • heart valve
  • lung
Limb:
  • lower limb
  • upper limb
General:
  • blood
  • blood vessel
  • coagulation system
  • red blood cell
  • spinal cord
genes like me logo Genes that share expression patterns with VCL: view

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 31 30
  • 99.88 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia VCL 31
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia VCL 31 30
  • 94.3 (n)
OneToOne
dog
(Canis familiaris)
Mammalia VCL 31 30
  • 94.18 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Vcl 17 31 30
  • 89.99 (n)
rat
(Rattus norvegicus)
Mammalia Vcl 30
  • 89.02 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 87 (a)
OneToMany
-- 31
  • 78 (a)
OneToMany
chicken
(Gallus gallus)
Aves VCL 31 30
  • 80.33 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia VCL 31
  • 93 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia vcl 30
  • 75.34 (n)
Str.10749 30
African clawed frog
(Xenopus laevis)
Amphibia vcl-A 30
zebrafish
(Danio rerio)
Actinopterygii vcla 31 30
  • 76.15 (n)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12305 30
fruit fly
(Drosophila melanogaster)
Insecta Vinc 31 32
  • 48 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea deb-1 31 32
  • 45 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 47 (a)
OneToOne
Cin.10978 30
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.10978 30
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)
Aminode:
Evolutionary constrained regions (ECRs) for VCL: view image

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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for VCL Gene

SNP ID Clinical significance and condition Chr 10 pos Variation AA Info Type
468805 Uncertain Significance: Dilated cardiomyopathy 1W 74,090,142(+) AC/GT MISSENSE_VARIANT
640172 Uncertain Significance: Dilated cardiomyopathy 1W 74,105,204(+) G/A MISSENSE_VARIANT
640967 Uncertain Significance: Dilated cardiomyopathy 1W 73,998,227(+) G/T MISSENSE_VARIANT
642872 Uncertain Significance: Dilated cardiomyopathy 1W 74,114,272(+) G/GGGCAC FRAMESHIFT_VARIANT
645059 Uncertain Significance: Dilated cardiomyopathy 1W 74,107,338(+) A/G MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for VCL Gene

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)

Additional Variant Information for VCL Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for VCL Gene

MalaCards: The human disease database

(29) MalaCards diseases for VCL Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
cardiomyopathy, dilated, 1w
  • cmd1w
cardiomyopathy, familial hypertrophic, 15
  • cmh15
familial isolated dilated cardiomyopathy
  • familial or idiopathic dilated cardiomyopathy
dilated cardiomyopathy
  • cardiomyopathy, familial idiopathic
congestive heart failure
  • cardiac failure congestive
- 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.

Additional Disease Information for VCL

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 RM (The Biochemical journal 2008) 3 4 23 54
  2. A missense mutation in a ubiquitously expressed protein, vinculin, confers susceptibility to hypertrophic cardiomyopathy. (PMID: 16712796) Vasile VC … Ackerman MJ (Biochemical and biophysical research communications 2006) 3 4 23 54
  3. Identification of a metavinculin missense mutation, R975W, associated with both hypertrophic and dilated cardiomyopathy. (PMID: 16236538) Vasile VC … Ackerman MJ (Molecular genetics and metabolism 2006) 3 4 23 54
  4. The phosphorylation of vinculin on tyrosine residues 100 and 1065, mediated by SRC kinases, affects cell spreading. (PMID: 15229287) Zhang Z … Haimovich B (Molecular biology of the cell 2004) 3 4 23 54
  5. Structural basis for amplifying vinculin activation by talin. (PMID: 15070891) Izard T … Vonrhein C (The Journal of biological chemistry 2004) 3 4 23 54

Products for VCL Gene