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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
49
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Hypertrophic cardiomyopathy 15 Likely pathogenic rs863225121 RCV000201438
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Primary dilated cardiomyopathy Likely pathogenic rs727503738 RCV000152646
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Aborted sudden cardiac death Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Aganglionic megacolon Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute Coronary Syndrome Coronary Syndrome CTD_human_DG 21751358
★☆☆☆☆
Found in Text Mining only
Aortic Dissection Aortic dissection Pubtator 32766314 Associate
★☆☆☆☆
Found in Text Mining only
Arrhythmogenic Right Ventricular Dysplasia Arrhythmogenic right ventricular cardiomyopathy Pubtator 31843279, 33947203 Associate
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 23075332, 27816808
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 35027076 Associate
★☆☆☆☆
Found in Text Mining only
Astrocytoma Astrocytoma Pubtator 18509200 Associate
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis BEFREE 23075332, 27816808
★☆☆☆☆
Found in Text Mining only
Benign Prostatic Hyperplasia Benign Prostatic Hyperplasia BEFREE 21294127
★☆☆☆☆
Found in Text Mining only
Bladder Neoplasm Bladder Neoplasm BEFREE 28552713
★☆☆☆☆
Found in Text Mining only
Blood Coagulation Disorders Blood coagulation disorder Pubtator 21829388 Associate
★☆☆☆☆
Found in Text Mining only