Gene Gene information from NCBI Gene database.
Entrez ID 7414
Gene name Vinculin
Gene symbol VCL
Synonyms (NCBI Gene)
CMD1WCMH15HEL114MVMVCLVINC
Chromosome 10
Chromosome location 10q22.2
Summary 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.
19
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.
838
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
87
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
193065 12665 ENSG00000035403
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
1960
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Hypertrophic cardiomyopathy 15 Likely pathogenic rs863225121 RCV000201438
Primary dilated cardiomyopathy Likely pathogenic rs727503738 RCV000152646
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Aborted sudden cardiac death Uncertain significance rs775532849 RCV000853423
Aganglionic megacolon Benign rs767809 RCV000984707
Cardiomyopathy Likely benign; Uncertain significance; Benign; Conflicting classifications of pathogenicity rs574769425, rs558040780, rs1334643090, rs1840154950, rs2136218338, rs777218777, rs199507346, rs147415627, rs576271894, rs144080529, rs144146254, rs727503739, rs565398652, rs201020802, rs373744314
View all (53 more)
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RCV001799086
RCV001799110
RCV001799341
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RCV001171118
RCV001171113
RCV000770290
RCV002272142
RCV001798490
RCV000769114
RCV003486686
RCV000770292
RCV001171112
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RCV000769117
RCV001798642
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RCV003150116
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RCV000769111
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Cardiovascular phenotype Uncertain significance; Conflicting classifications of pathogenicity; Likely benign; Benign rs762380935, rs1203105475, rs774076269, rs374737519, rs550741064, rs1840231278, rs754591130, rs921627346, rs1271589037, rs960636997, rs2136272931, rs777492997, rs773421444, rs2131937395, rs769989314
View all (478 more)
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Associations from Text MiningDisease 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