Gene
|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
7414 |
Gene nameGene Name - the full gene name approved by the HGNC.
|
Vinculin |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
|
VCL |
SynonymsGene synonyms aliases
|
CMD1W, CMH15, HEL114, MV, MVCL, VINC |
ChromosomeChromosome number
|
10 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
10q22.2 |
SummarySummary 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 |
SNPsSNP 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 |
rs189242810 |
C>T |
Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance |
Coding sequence variant, missense variant |
rs200624351 |
C>A |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, missense variant |
rs367598954 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Intron variant |
rs373744314 |
T>C |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, missense variant |
rs397517237 |
GTT>- |
Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, inframe deletion, intron variant |
rs397517244 |
C>T |
Likely-pathogenic, uncertain-significance |
Coding sequence variant, stop gained |
rs397517245 |
->A |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
rs727503738 |
A>G |
Likely-pathogenic |
Splice acceptor variant |
rs727503741 |
C>T |
Likely-pathogenic |
Coding sequence variant, stop gained |
rs727504381 |
C>T |
Likely-pathogenic |
Coding sequence variant, stop gained |
rs779488376 |
A>- |
Uncertain-significance, likely-pathogenic |
Coding sequence variant, frameshift variant |
rs781036800 |
CT>- |
Uncertain-significance, likely-pathogenic |
Coding sequence variant, intron variant, frameshift variant |
rs863225121 |
G>T |
Likely-pathogenic |
Coding sequence variant, missense variant |
rs876657674 |
->G |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
|
miRNAmiRNA information provided by mirtarbase database.
|
|
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:0002576 |
Process |
Platelet degranulation |
TAS |
|
GO:0003779 |
Function |
Actin binding |
IDA |
16803572 |
GO:0003779 |
Function |
Actin binding |
IDA |
7816144 |
GO:0005198 |
Function |
Structural molecule activity |
IEA |
|
GO:0005515 |
Function |
Protein binding |
IPI |
9054445, 9885244, 10320934, 12473693, 15070891, 15163412, 15988023, 16189514, 16803572, 16826238, 17082770, 17289036, 17932491, 18028034, 21841197, 22427331, 25416956, 26923917, 29892012 |
GO:0005576 |
Component |
Extracellular region |
TAS |
|
GO:0005829 |
Component |
Cytosol |
TAS |
|
GO:0005856 |
Component |
Cytoskeleton |
TAS |
16130169 |
GO:0005911 |
Component |
Cell-cell junction |
IMP |
25753039 |
GO:0005911 |
Component |
Cell-cell junction |
ISS |
|
GO:0005912 |
Component |
Adherens junction |
IDA |
20086044, 26923917 |
GO:0005912 |
Component |
Adherens junction |
ISS |
|
GO:0005916 |
Component |
Fascia adherens |
IEA |
|
GO:0005925 |
Component |
Focal adhesion |
HDA |
21423176 |
GO:0005925 |
Component |
Focal adhesion |
IDA |
20086044, 29162887 |
GO:0005925 |
Component |
Focal adhesion |
IMP |
26923917 |
GO:0005925 |
Component |
Focal adhesion |
ISS |
|
GO:0006936 |
Process |
Muscle contraction |
TAS |
|
GO:0007155 |
Process |
Cell adhesion |
TAS |
15501673 |
GO:0007160 |
Process |
Cell-matrix adhesion |
TAS |
20086044 |
GO:0008013 |
Function |
Beta-catenin binding |
ISS |
20086044 |
GO:0030032 |
Process |
Lamellipodium assembly |
ISS |
|
GO:0030055 |
Component |
Cell-substrate junction |
NAS |
2116004 |
GO:0030336 |
Process |
Negative regulation of cell migration |
TAS |
15494027 |
GO:0031625 |
Function |
Ubiquitin protein ligase binding |
IPI |
19725078 |
GO:0032991 |
Component |
Protein-containing complex |
IDA |
9700171 |
GO:0034333 |
Process |
Adherens junction assembly |
IMP |
20086044 |
GO:0034394 |
Process |
Protein localization to cell surface |
IMP |
20086044 |
GO:0034774 |
Component |
Secretory granule lumen |
TAS |
|
GO:0035580 |
Component |
Specific granule lumen |
TAS |
|
GO:0035633 |
Process |
Maintenance of blood-brain barrier |
NAS |
30280653 |
GO:0042383 |
Component |
Sarcolemma |
ISS |
|
GO:0043034 |
Component |
Costamere |
IDA |
9415431 |
GO:0043034 |
Component |
Costamere |
ISS |
|
GO:0043297 |
Process |
Apical junction assembly |
IMP |
9700171 |
GO:0043312 |
Process |
Neutrophil degranulation |
TAS |
|
GO:0044291 |
Component |
Cell-cell contact zone |
IMP |
26923917 |
GO:0045294 |
Function |
Alpha-catenin binding |
IPI |
9700171 |
GO:0045296 |
Function |
Cadherin binding |
HDA |
25468996 |
GO:0045296 |
Function |
Cadherin binding |
ISS |
20086044 |
GO:0048675 |
Process |
Axon extension |
IEA |
|
GO:0051893 |
Process |
Regulation of focal adhesion assembly |
IMP |
26923917 |
GO:0070062 |
Component |
Extracellular exosome |
HDA |
19056867, 20458337 |
GO:0070527 |
Process |
Platelet aggregation |
HMP |
23382103 |
GO:0090136 |
Process |
Epithelial cell-cell adhesion |
IMP |
20086044 |
GO:1903140 |
Process |
Regulation of establishment of endothelial barrier |
IDA |
26923917 |
GO:1903561 |
Component |
Extracellular vesicle |
HDA |
24769233 |
GO:1904702 |
Process |
Regulation of protein localization to adherens junction |
IMP |
26923917 |
GO:1904813 |
Component |
Ficolin-1-rich granule lumen |
TAS |
|
|
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
|
|
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 |
|
Sequence |
|
Sequence length |
1134 |
Interactions |
View interactions |
|
|