Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
7414
Gene name Gene Name - the full gene name approved by the HGNC.
Vinculin
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
VCL
Synonyms (NCBI Gene) Gene synonyms aliases
CMD1W, CMH15, HEL114, MV, MVCL, VINC
Chromosome Chromosome number
10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
10q22.2
Summary Summary of gene provided in NCBI Entrez 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 di
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs71579374 A>G Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign Missense variant, coding sequence variant
rs71579375 C>A,G Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign Intron variant, coding sequence variant, missense variant
rs121917776 C>T Pathogenic, uncertain-significance Missense variant, coding sequence variant, intron variant
rs141033098 A>C Benign-likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign Missense variant, coding sequence variant
rs150385900 G>C Uncertain-significance, conflicting-interpretations-of-pathogenicity, benign, benign-likely-benign Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT004115 hsa-miR-559 Western blot 19584269
MIRT004114 hsa-miR-661 Western blot 19584269
MIRT025522 hsa-miR-34a-5p Proteomics 21566225
MIRT051181 hsa-miR-16-5p CLASH 23622248
MIRT048250 hsa-miR-196a-5p CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0002009 Process Morphogenesis of an epithelium IMP 20086044
GO:0002102 Component Podosome IEA
GO:0002162 Function Dystroglycan binding IPI 18341635
GO:0003779 Function Actin binding IDA 7816144
GO:0003779 Function Actin binding IDA 16803572
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
193065 12665 ENSG00000035403
Protein
UniProt ID P18206
Protein name Vinculin (Metavinculin) (MV)
Protein 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 morpho
PDB 1RKC , 1RKE , 1SYQ , 1TR2 , 1YDI , 2GWW , 2HSQ , 2IBF , 3H2U , 3H2V , 3JBK , 3MYI , 3RF3 , 3S90 , 3TJ5 , 3TJ6 , 3VF0 , 4DJ9 , 4EHP , 4LN2 , 4LNP , 4PR9 , 5L0C , 5L0D , 5L0F , 5L0G , 5L0H , 5L0I , 5L0J , 5O2Q , 6FUY , 6UPW , 7KTT , 7KTU , 7KTV , 7KTW
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01044 Vinculin 3 485 Vinculin family Family
PF01044 Vinculin 476 921 Vinculin family Family
PF01044 Vinculin 918 1134 Vinculin family Family
Tissue specificity TISSUE SPECIFICITY: Metavinculin is muscle-specific.
Sequence
MPVFHTRTIESILEPVAQQISHLVIMHEEGEVDGKAIPDLTAPVAAVQAAVSNLVRVGKE
TVQTTEDQILKRDMPPAFIKVENACTKLVQAAQMLQSDPYSVPARDYLIDGSRGILSGTS
DLLLTFDEAEVRKIIRVCKGILEYLTVAEVVETMEDLVTYTKNLGPGMTKMAKMIDERQQ
ELTHQEHRVMLVNSMNTVKELLPVLISAMKIFVTTKNSKNQGIEEALKNRNFTVEKMSAE
INEIIRVLQLTSWDEDAWASKDTEAMKRALASIDSKLNQAKGWLRDPSASPGDAGEQAIR
QILDEAGKVGELCAGKERREILGTCKMLGQMTDQVADLRARGQGSSPVAMQKAQQVSQGL
DVLTAKVENAARKLEAMTNSKQSIAKKIDAAQNWLADPNGGPEGEEQIRGALAEARKIAE
LCDDPKERDDILRSLGEISALTSKLADLRRQGKGDSPEARALAKQVATALQNLQT
KTNRA
VANSR
PAKAAVHLEGKIEQAQRWIDNPTVDDRGVGQAAIRGLVAEGHRLANVMMGPYRQD
LLAKCDRVDQLTAQLADLAARGEGESPQARALASQLQDSLKDLKARMQEAMTQEVSDVFS
DTTTPIKLLAVAATAPPDAPNREEVFDERAANFENHSGKLGATAEKAAAVGTANKSTVEG
IQASVKTARELTPQVVSAARILLRNPGNQAAYEHFETMKNQWIDNVEKMTGLVDEAIDTK
SLLDASEEAIKKDLDKCKVAMANIQPQMLVAGATSIARRANRILLVAKREVENSEDPKFR
EAVKAASDELSKTISPMVMDAKAVAGNISDPGLQKSFLDSGYRILGAVAKVREAFQPQEP
DFPPPPPDLEQLRLTDELAPPKPPLPEGEVPPPRPPPPEEKDEEFPEQKAGEVINQPMMM
AARQLHDEARKWSSKPGIPAAEVGIGVVAEADAADAAGFPVPPDMEDDYEPELLLMPSNQ
PVNQPILAAAQSLHREATKWSSKGNDIIAAAKRMALLMAEMSRLVRGGSGTKRALIQCAK
DIAKASDEVTRLAKEVAKQCTDKRIRTNLLQVCERIPTISTQLKILSTVKATMLGRTNIS
DEESEQATEMLVHNAQNLMQSVKETVREAEAASIKIRTDAGFTLRWVRKTPWYQ
Sequence length 1134
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Focal adhesion
Adherens junction
Leukocyte transendothelial migration
Regulation of actin cytoskeleton
Cytoskeleton in muscle cells
Bacterial invasion of epithelial cells
Shigellosis
Amoebiasis
  Platelet degranulation
Smooth Muscle Contraction
MAP2K and MAPK activation
Neutrophil degranulation
Signaling by moderate kinase activity BRAF mutants
Signaling by high-kinase activity BRAF mutants
Signaling by BRAF and RAF fusions
Paradoxical activation of RAF signaling by kinase inactive BRAF
Signaling downstream of RAS mutants
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Cardiomyopathy Primary dilated cardiomyopathy rs727503738, rs727504381 N/A
Hypertrophic Cardiomyopathy Hypertrophic cardiomyopathy 15 rs863225121 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Congestive Heart Failure congestive heart failure N/A N/A ClinVar
Dilated Cardiomyopathy Dilated cardiomyopathy 1W, familial isolated dilated cardiomyopathy, Dilated cardiomyopathy 1S, Dilated Cardiomyopathy, Dominant N/A N/A ClinVar, GenCC
Long QT Syndrome long qt syndrome N/A N/A ClinVar
Myopathy dilated cardiomyopathy 1W, dilated cardiomyopathy N/A N/A GenCC
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Acidosis Associate 28373245
Acute Aortic Syndrome Stimulate 32766314
Acute Coronary Syndrome Associate 35683019
Aortic Dissection Associate 32766314
Arrhythmogenic Right Ventricular Dysplasia Associate 31843279, 33947203
Arthritis Rheumatoid Associate 35027076
Astrocytoma Associate 18509200
Blood Coagulation Disorders Associate 21829388
Blood Platelet Disorders Associate 23382103
Breast Neoplasms Associate 32511274, 9434630