Aliases for VCL Gene
Aliases for VCL Gene
External Ids for VCL Gene
- HGNC: 12665
- Entrez Gene: 7414
- Ensembl: ENSG00000035403
- OMIM: 193065
- UniProtKB: P18206
Previous GeneCards Identifiers for VCL Gene
- GC10P074712
- GC10P074861
- GC10P075650
- GC10P075102
- GC10P075427
- GC10P075757
- GC10P069753
Summaries 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, Familial Hypertrophic, 15 and Cardiomyopathy, Dilated, 1W. Among its related pathways are RET signaling and Cardiac conduction. 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 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.
Additional gene information for VCL Gene
- Monarch Initiative
- Search for VCL at DataMed
- Search for VCL at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for VCL Gene
Genomics for VCL Gene
GeneHancer (GH) Regulatory Elements for VCL Gene
Promoters and enhancers for VCL Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around VCL on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
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)
Genomic View for VCL Gene
Genes around VCL on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 10q22.2 by Ensembl
- 10q22.2 by Entrez Gene
- 10q22.2 by HGNC
VCL Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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
Protein Expression for VCL Gene
Post-translational modifications for VCL Gene
- Acetylated; mainly by myristic acid but also by a small amount of palmitic acid.
- 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).
- Ubiquitination at posLast=219219, isoforms=2444, posLast=464464, isoforms=2476, and isoforms=2815
Other Protein References for VCL Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- R&D Systems Antibodies for VCL (Vinculin)
- Cell Signaling Technology (CST) Antibodies for VCL (Vinculin iso2)
- Novus Biologicals Antibodies for VCL
-
Abcam antibodies for VCL
-
Cloud-Clone Corp. Antibodies for VCL
- Invitrogen Antibodies for VCL
- antibodies-online: Search results for 198 available Vinculin Antibodies ranked by validation data
- Compare Top Vinculin Antibodies
-
Recommended
- 3 IP Antibodies (anti-rat)
- 3 IHC Antibodies (anti-rat)
- 5 IHC (p) Antibodies (anti-rat)
- 12 IF (p) Antibodies (anti-rat)
- 59 WB Antibodies (anti-rat)
- 1 IF Antibody (anti-mouse)
- 3 IP Antibodies (anti-mouse)
- 3 IHC Antibodies (anti-mouse)
- 4 IHC (p) Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-mouse)
- 72 WB Antibodies (anti-mouse)
- 1 IF Antibody (anti-human)
- 4 IP Antibodies (anti-human)
- 5 IHC Antibodies (anti-human)
- 12 IF (p) Antibodies (anti-human)
- 22 IHC (p) Antibodies (anti-human)
- 142 WB Antibodies (anti-human)
- GeneTex VCL antibody for VCL
-
Santa Cruz Biotechnology (SCBT) Antibodies for VCL
- Sino Biological Antibodies for VCL
Protein Products
-
OriGene Purified Proteins for VCL
- Search Origene for MassSpec and Protein Over-expression Lysates for VCL
- Origene Custom Protein Services for VCL
- Sino Biological Cell Lysates for VCL
- Sino Biological Recombinant Proteins for VCL
-
Cloud-Clone Corp. Proteins for VCL
- Search GeneTex for Proteins for VCL
-
ProSci Proteins for VCL
-
Abcam proteins for VCL
Assay Products
-
Cloud-Clone Corp. Assay Kits for VCL
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
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for VCL Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
P18206UniProtKB/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.
Function for VCL Gene
Molecular function for VCL Gene
- GENATLAS Biochemistry:
- vinculin,130kDa,component of adherens type of cell junction (catenin family)
- 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.
Phenotypes From GWAS Catalog 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 |
Phenotypes for VCL Gene
- MGI mutant phenotypes for VCL:
- inferred from 3 alleles
- GenomeRNAi human phenotypes for VCL:
Animal Models for VCL Gene
- MGI Knock Outs for VCL:
-
- Vcl tm1Eda
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
-
ViGene Biosciences lentiviral particle packaged cDNA for VCL gene
-
ViGene Biosciences ready-to-package AAV shRNAs for VCL gene
- Search ViGene Biosciences for VCL
CRISPR Products
-
OriGene CRISPR knockouts for VCL
- genomics-online: gRNA clones - Search results for 124 available Vinculin gene related products
- Overview of 124 available Vinculin gene related products
- Applied Biological Materials CRISPR for VCL
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for VCL
- GenScript: Design CRISPR guide RNA sequences for VCL
miRNA for VCL Gene
- miRTarBase miRNAs that target VCL
-
- hsa-mir-661 (MIRT004114)
- hsa-mir-559 (MIRT004115)
- hsa-mir-34a-5p (MIRT025522)
- hsa-mir-320b (MIRT036206)
- hsa-mir-130b-5p (MIRT038322)
- hsa-mir-320a (MIRT044534)
- hsa-mir-125b-5p (MIRT045944)
- hsa-mir-222-3p (MIRT046654)
- hsa-mir-196a-5p (MIRT048250)
- hsa-mir-16-5p (MIRT051181)
- hsa-mir-6811-5p (MIRT464248)
- hsa-mir-6511b-5p (MIRT464249)
- hsa-mir-7151-3p (MIRT464250)
- hsa-mir-5095 (MIRT464251)
- hsa-mir-8065 (MIRT464252)
- hsa-mir-656-5p (MIRT464253)
- hsa-mir-6799-5p (MIRT464254)
- hsa-mir-6722-3p (MIRT464255)
- hsa-mir-6836-5p (MIRT464256)
- hsa-mir-1909-3p (MIRT464257)
- hsa-mir-6132 (MIRT464258)
- hsa-mir-98-5p (MIRT464259)
- hsa-mir-4500 (MIRT464260)
- hsa-mir-4458 (MIRT464261)
- hsa-let-7i-5p (MIRT464262)
- hsa-let-7g-5p (MIRT464263)
- hsa-let-7f-5p (MIRT464264)
- hsa-let-7e-5p (MIRT464265)
- hsa-let-7d-5p (MIRT464266)
- hsa-let-7c-5p (MIRT464267)
- hsa-let-7b-5p (MIRT464268)
- hsa-let-7a-5p (MIRT464269)
- hsa-mir-6754-5p (MIRT464270)
- hsa-mir-4441 (MIRT464271)
- hsa-mir-4270 (MIRT464272)
- hsa-mir-6504-3p (MIRT464273)
- hsa-mir-4739 (MIRT464274)
- hsa-mir-4756-5p (MIRT464275)
- hsa-mir-1321 (MIRT464276)
- hsa-mir-4700-3p (MIRT464277)
- hsa-mir-195-5p (MIRT726141)
- hsa-mir-15b-5p (MIRT726142)
- hsa-mir-15a-5p (MIRT726143)
miRNA Products
- Search ViGene Biosciences for VCL
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for VCL
- Browse OriGene Inhibitory RNA Products For VCL
- genomics-online: shRNA clones - Search results for 124 available Vinculin gene related products
- Overview of 124 available Vinculin gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for VCL gene
Clone Products
- Sino Biological Human cDNA Clone for VCL
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Addgene plasmids for VCL
- Applied Biological Materials Clones for VCL
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for VCL
-
ViGene Biosciences adenoviral particle packaged cDNA for VCL gene
-
ViGene Biosciences lentiviral particle packaged cDNA for VCL gene
-
ViGene Biosciences ready-to-package AAV shRNAs for VCL gene
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}.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| extracellular | 5 |
| cytoskeleton | 5 |
| cytosol | 5 |
| peroxisome | 2 |
| nucleus | 2 |
| mitochondrion | 1 |
| endoplasmic reticulum | 1 |
- Focal adhesion sites (4)
| 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 | -- |
Pathways & Interactions for VCL Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | RET signaling |
.92
|
.92
|
| 2 | Signaling by moderate kinase activity BRAF mutants | ||
| 3 | Response to elevated platelet cytosolic Ca2+ |
.44
|
|
| 4 | Focal Adhesion |
.62
.62
|
|
| 5 | Sertoli-Sertoli Cell Junction Dynamics | ||
Pathways by source for VCL Gene
2 Cell Signaling Technology pathways for VCL Gene
9 BioSystems pathways for VCL Gene
62 Reactome pathways for VCL Gene
7 KEGG pathways for VCL Gene
4 GeneGo (Thomson Reuters) pathways for VCL Gene
Interacting Proteins for VCL Gene
Selected Interacting proteins:
ENSP00000211998
P18206-VINC_HUMAN
for VCL Gene via
STRING
MINT
UniProtKB
IID
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0002009 | morphogenesis of an epithelium | IMP | 20086044 |
| GO:0002576 | platelet degranulation | TAS | -- |
| GO:0006928 | movement of cell or subcellular component | TAS | 16130169 |
| GO:0006936 | muscle contraction | TAS | -- |
| GO:0007155 | cell adhesion | TAS | 15501673 |
No data available for SIGNOR curated interactions for VCL Gene
Transcripts for VCL Gene
mRNA/cDNA for VCL Gene
- (2) REFSEQ mRNAs :
- (9) Additional mRNA sequences :
- (504) Selected AceView cDNA sequences:
- (7) Ensembl transcripts including schematic representations, and UCSC links where relevant :
CRISPR Products
-
OriGene CRISPR knockouts for VCL
- genomics-online: gRNA clones - Search results for 124 available Vinculin gene related products
- Overview of 124 available Vinculin gene related products
- Applied Biological Materials CRISPR for VCL
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for VCL
- GenScript: Design CRISPR guide RNA sequences for VCL
miRNA Products
- Search ViGene Biosciences for VCL
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for VCL
- Browse OriGene Inhibitory RNA Products For VCL
- genomics-online: shRNA clones - Search results for 124 available Vinculin gene related products
- Overview of 124 available Vinculin gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for VCL gene
Clone Products
- Sino Biological Human cDNA Clone for VCL
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Addgene plasmids for VCL
- Applied Biological Materials Clones for VCL
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| 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: |
Expression for VCL Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Smooth Muscle (Muscoskeletal System)
- Endothelium (Cardiovascular System)
-
Lateral Plate Mesoderm (Gastrulation Derivatives)
- Vascular Smooth Muscle Cells Splanchnic Mesoderm
-
Heart (Cardiovascular System)
- Vascular Smooth Muscle Cells Aortic Arch Arteries
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, PaxDb, MaxQB, and MOPED for VCL Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of VCL Gene:
VCLSOURCE GeneReport for Unigene cluster for VCL Gene:
Hs.643896mRNA 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(4.7)
- 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
Organs:
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
Primer Products
-
OriGene qPCR primer pairs and template standards for VCL
-
OriGene qPCR primer pairs for VCL
- genomics-online: primer clones - Search results for 124 available Vinculin gene related products
- Overview of 124 available Vinculin gene related products
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | VCL 33 34 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | VCL 34 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | VCL 33 34 |
|
||
| dog (Canis familiaris) |
Mammalia | VCL 33 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Vcl 33 16 34 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Vcl 33 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 34 |
|
OneToMany | |
| -- 34 |
|
OneToMany | |||
| chicken (Gallus gallus) |
Aves | VCL 33 34 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | VCL 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | vcl 33 |
|
||
| Str.10749 33 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | vcl-A 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | vcla 33 34 |
|
||
| rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.12305 33 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | Vinc 35 34 |
|
||
| worm (Caenorhabditis elegans) |
Secernentea | deb-1 35 34 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
OneToOne | |
| sea squirt (Ciona intestinalis) |
Ascidiacea | Cin.10978 33 |
|
- 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)
Paralogs for VCL Gene
Variants for VCL Gene
| SNP ID | Clin | Chr 10 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1010419468 | likely-benign, Dilated cardiomyopathy 1W | 74,114,201(+) | A/G | coding_sequence_variant, synonymous_variant | |
| rs1011177751 | uncertain-significance, Dilated Cardiomyopathy, Dominant | 74,119,709(+) | A/C | 3_prime_UTR_variant | |
| rs1040173424 | uncertain-significance, Dilated Cardiomyopathy, Dominant | 74,119,930(+) | A/G | 3_prime_UTR_variant | |
| rs1048352232 | uncertain-significance, Dilated Cardiomyopathy, Dominant | 74,119,572(+) | C/T | 3_prime_UTR_variant | |
| rs1050797785 | uncertain-significance, Dilated cardiomyopathy 1W | 74,101,102(+) | G/A/T | intron_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv924n100 | CNV | gain | 25217958 |
| esv3623822 | CNV | loss | 21293372 |
| nsv25246 | CNV | deletion | 16902084 |
| nsv551527 | CNV | gain | 21841781 |
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
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for VCL Gene
Disorders for VCL Gene
(19) MalaCards diseases for VCL Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| cardiomyopathy, familial hypertrophic, 15 |
|
|
| cardiomyopathy, dilated, 1w |
|
|
| familial isolated dilated cardiomyopathy |
|
|
| dilated cardiomyopathy |
|
|
| shigellosis |
|
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
No data available for Genatlas for VCL Gene
Publications for VCL Gene
- Human alpha-synemin interacts directly with vinculin and metavinculin. (PMID: 18028034) Sun N … Robson RM (The Biochemical journal 2008) 3 4 22 58
- 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 22 58
- 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 22 58
- Vinculin activation by talin through helical bundle conversion. (PMID: 14702644) Izard T … Bois PR (Nature 2004) 3 4 22 58
- Structural basis for amplifying vinculin activation by talin. (PMID: 15070891) Izard T … Vonrhein C (The Journal of biological chemistry 2004) 3 4 22 58
Products for VCL Gene
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- Invitrogen Antibodies for VCL
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Addgene plasmids for VCL
- antibodies-online: Search results for 198 available Vinculin Antibodies ranked by validation data
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- 142 WB Antibodies (anti-human)
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- 5 IHC Antibodies (anti-human)
- 4 IP Antibodies (anti-human)
- 1 IF Antibody (anti-human)
- 72 WB Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-mouse)
- 4 IHC (p) Antibodies (anti-mouse)
- 3 IHC Antibodies (anti-mouse)
- 3 IP Antibodies (anti-mouse)
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- 59 WB Antibodies (anti-rat)
- 12 IF (p) Antibodies (anti-rat)
- 5 IHC (p) Antibodies (anti-rat)
- 3 IHC Antibodies (anti-rat)
- 3 IP Antibodies (anti-rat)
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- ViGene Biosciences adenoviral particle packaged cDNA for VCL gene
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- Santa Cruz Biotechnology (SCBT) Antibodies for VCL
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- genomics-online: cdna clones - Search results for 124 available Vinculin gene related products
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Sources for VCL Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114)