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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

VCL Gene

protein-coding GIFtS: 70
GCID: GC10P075757

vinculin

Explore 57 diseases affiliated with
VCL via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Vinculin¹
CMD1W² ⁵
CMH15² ⁵
MVCL²
Metavinculin³
Metavinculin³

External Ids:	HGNC: 12665¹	Entrez Gene: 7414²	Ensembl: ENSG00000035403⁷	OMIM: 193065⁵	UniProtKB: P18206³

Export aliases for VCL gene to outside databases

Previous GC identifers: GC10P074712 GC10P074861 GC10P075650 GC10P075102 GC10P075427 GC10P069753

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for VCL:

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)

UniProtKB/Swiss-Prot: VINC_HUMAN, P18206

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

Gene Wiki entry for VCL (Vinculin)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000010.10 NC_018921.1 NT_030059.13

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the VCL gene promoter:
NF-1 NF-1/L RelA Egr-4 HEN1 FOXC1 TGIF Pax-4a NF-kappaB1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: VCL promoter sequence

Search SABiosciences Chromatin IP Primers for VCL

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat VCL

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 10q22.2 Ensembl cytogenetic band: 10q22.2 HGNC cytogenetic band: 10q22.1-q23

VCL Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
VCL gene location

GeneLoc information about chromosome 10 GeneLoc Exon Structure

GeneLoc location for GC10P075757: view genomic region (about GC identifiers)

Start:	75,757,872 bp from pter	End:	75,879,918 bp from pter
Size:	122,047 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: VINC_HUMAN, P18206 (See protein sequence)

Recommended Name: Vinculin

Size: 1134 amino acids; 123799 Da

Subunit: Exhibits self-association properties. Interacts with NRAP and SORBS1 (By similarity). Interacts with TLN1.

Interacts with SYNM. 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)

Subcellular location: Cytoplasm, cytoskeleton. Cell junction, adherens junction. Cell membrane; Peripheral membrane

protein; Cytoplasmic side. Cell junction, focal adhesion. Note=Cytoplasmic face of adhesion plaques. 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 (By similarity). Co-localizes with LIMD1 in the focal adhesions

6/18 PDB 3D structures from and Proteopedia for VCL (see all 18):

1RKC (3D)

1RKE (3D)

1SYQ (3D)

1TR2 (3D)

1YDI (3D)

2GWW (3D)

Secondary accessions: Q16450 Q5SWX2 Q7Z3B8 Q8IXU7

Alternative splicing: 3 isoforms: P18206-1 P18206-2 P18206-3 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for VCL: NX_P18206

Post-translational modifications:

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)¹

Acetylated; mainly by myristic acid but also by a small amount of palmitic acid (By similarity)¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P18206

VCL Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_003364.1 NP_054706.1

ENSEMBL proteins:

ENSP00000361841 ENSP00000415489 ENSP00000211998 ENSP00000411887

Reactome Protein details: P18206
Human Recombinant Protein Products:

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	Novus Biologicals VCL Protein Novus Biologicals VCL Lysate
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for VCL

Gene Ontology (GO): 5/17 cellular component terms (GO ID links to tree view) (see all 17): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001725	stress fiber	--	--
GO:0005576	extracellular region	TAS	--
GO:0005829	cytosol	TAS	--
GO:0005856	cytoskeleton	TAS	16130169
GO:0005884	actin filament	--	--

VCL for ontologies About GeneDecksing

VCL Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of VCL
	R&D Systems Antibodies for VCL (Vinculin)
	Cell Signaling Technology (CST) Antibodies for VCL (vinculin)
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	Novus Biologicals VCL Antibodies
	Abcam antibodies for VCL
	Uscn Antibodies for VCL
	ThermoFisher Antibodies for VCL

Assay Products for VCL:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for VCL
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for VCL

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

VCL for domains About GeneDecksing

3 InterPro domains/families:

IPR006077 Vinculin/catenin

IPR000633 Vinculin_CS

IPR017997 Vinculin

Graphical View of Domain Structure for InterPro Entry P18206

ProtoNet protein and cluster: P18206

UniProtKB/Swiss-Prot: VINC_HUMAN, P18206

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

Domain: 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. 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

Similarity: Belongs to the vinculin/alpha-catenin family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: VINC_HUMAN, P18206

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

Genatlas biochemistry entry for VCL:

vinculin,130kDa,component of adherens type of cell junction (catenin family)

miRNA Products:		miRTarBase miRNAs that target VCL: hsa-mir-661 (MIRT004114), hsa-mir-559 (MIRT004115)

		OriGene 3'-UTR Clone (see all 2): VCL Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat VCL
		8/70 QIAGEN miScript miRNA Assays for microRNAs that regulate VCL (see all 70):
		hsa-miR-300 hsa-miR-106a hsa-miR-3074-3p hsa-miR-93 hsa-miR-376a* hsa-miR-4293 hsa-miR-92b hsa-miR-3612

		SwitchGear 3'UTR luciferase reporter plasmid: VCL 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for VCL (see all 7) OriGene shRNA RFP: VCL OriGene siRNA: VCL
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat VCL

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for VCL

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for VCL (see all 4) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for VCL (see all 2) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 2): VCL (NM_014000)
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		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat VCL

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for VCL
		Search LifeMap BioReagents cell lines for VCL

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for VCL

Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8): About this table

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	16803572
GO:0008013	beta-catenin binding	ISS	--

VCL for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for VCL:

Decreased viability of wild-ty

Animal Models:
Mouse knock-out Vcl^tm1Eda for VCL
10 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Vcl):

cardiovascular system	cellular	craniofacial	digestive/alimentary	embryogenesis
growth/size	limbs/digits/tail	mortality/aging	muscle	nervous system

VCL for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/29 super-pathways (see all 29) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Cell adhesion_Integrin-mediated cell adhesion and migration

Cell adhesion_Integrin-mediated cell adhesion and migration	1.00	Cytoskeleton remodeling Integrin outside-in signaling	0.37
Cell adhesion Integrin-mediated cell adhesion and migration	1.00	Cytoskeleton remodeling Fibronectin-binding integrins in cell motility	0.32
Cytoskeleton remodeling_Integrin outside-in signaling	0.37	Cytoskeleton remodeling_Fibronectin-binding integrins in cell motility	0.32

Sertoli-Sertoli Cell Junction Dynamics

	Sertoli-Sertoli Cell Junction Dynamics	1.00			Epithelial Tight Junctions	0.36
	Germ Cell-Sertoli Cell Junction Dynamics	0.38

Focal Adhesion

	Focal Adhesion	1.00			Integrin-mediated cell adhesion	0.38
	Focal adhesion	0.66

Platelet activation, signaling and aggregation

Platelet activation, signaling and aggregation

1.00

Hemostasis

0.43

Platelet degranulation

Platelet degranulation

1.00

Response to elevated platelet cytosolic Ca2+

0.94

Pathway sources
See GeneCards unified pathways
Show all pathways

3 EMD Millipore Pathways for VCL

	Cell adhesion Integrin-mediated cell adhesion and migration
	Cytoskeleton remodeling Integrin outside-in signaling
	Cytoskeleton remodeling Fibronectin-binding integrins in cell motility

5/12 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for VCL (see all 12)

	MAPK Signaling
	RhoA Pathway
	Sertoli-Sertoli Cell Junction Dynamics
	Paxillin Interactions
	Remodeling of Adherens Junctions

2 Cell Signaling Technology (CST) Pathways for VCL

	Cytoskeletal Signaling
	Adhesion

4 GeneGo (Thomson Reuters) Pathways for VCL

	Development VEGF signaling via VEGFR2 - generic cascades
	Cytoskeleton remodeling Integrin outside-in signaling
	Cell adhesion Integrin-mediated cell adhesion and migration
	Cytoskeleton remodeling Fibronectin-binding integrins in cell motility

5/9 BioSystems Pathways for VCL (see all 9)

	Integrin-mediated cell adhesion
	Focal Adhesion
	Regulation of Actin Cytoskeleton
	IL-3 Signaling Pathway
	Signaling events mediated by focal adhesion kinase

5/6 Reactome Pathways for VCL (see all 6)

	Hemostasis
	Smooth Muscle Contraction
	Muscle contraction
	Platelet degranulation
	Platelet activation, signaling and aggregation

5/7 Kegg Pathways (Kegg details for VCL) (see all 7):

	Focal adhesion
	Adherens junction
	Leukocyte transendothelial migration
	Regulation of actin cytoskeleton
	Bacterial invasion of epithelial cells

VCL for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for VCL

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/221 Interacting proteins for VCL (P18206^{2, 3} ENSP00000211998⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 221)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
PRPF40A	O75400²^,³	MINT-61876 I2D: score=3
TRIP6	Q15654²^,³, ENSP00000200457⁴	MINT-68320 I2D: score=6 STRING: ENSP00000200457
YWHAZ	P63104²^,³, ENSP00000309503⁴	MINT-3318937 I2D: score=1 STRING: ENSP00000309503
C19orf57	Q0VDD7³, ENSP00000254336⁴	I2D: score=4 STRING: ENSP00000254336
CORO2B	Q9UQ03³, ENSP00000261861⁴	I2D: score=3 STRING: ENSP00000261861

About this table

Gene Ontology (GO): 5/15 biological process terms (GO ID links to tree view) (see all 15): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0002009	morphogenesis of an epithelium	IMP	--
GO:0002576	platelet degranulation	TAS	--
GO:0006928	cellular component movement	TAS	16130169
GO:0006936	muscle contraction	TAS	--
GO:0007155	cell adhesion	TAS	15501673

VCL for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

VCL for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for VCL
10/60 Novoseek chemical compound relationships for VCL gene (see all 60) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
phosphotyrosine	70.2	28	10318759 (2), 12584242 (2), 7507854 (1), 7518470 (1) (see all 25)
cytochalasin d	62.9	4	1629252 (1), 10096665 (1)
tyrosine	62	65	15229287 (7), 7691054 (4), 8288618 (2), 9364324 (2) (see all 44)
phalloidin	60.8	5	11581207 (1), 9224767 (1), 10438068 (1), 8392930 (1) (see all 5)
swinholide a	55.9	2	9178097 (2)
cytochalasin	41.8	1	1629252 (1)
colcemid	41.5	3	9638333 (2), 9118237 (1)
titanium	38.4	6	15472401 (2), 1722250 (1), 7512646 (1), 17628662 (1)
pip2	37.9	11	8288618 (4), 9560340 (3), 15037311 (1)
cytochalasin b	33.8	2	8843917 (1), 2169493 (1)

Search CenterWatch for drugs/clinical trials and news about VCL / VINC

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for VCL gene (2 alternative transcripts):

NM_003373.3 NM_014000.2

Unigene Cluster for VCL:

Vinculin

Hs.643896 [show with all ESTs]

Unigene Representative Sequence: NM_014000

7 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000372755(uc009xrr.3 uc001jwe.3 uc010qkz.2) ENST00000478896

ENST00000461383 ENST00000436396 ENST00000472585 ENST00000211998(uc010qky.1 uc001jwd.3)

ENST00000417648

miRNA Products:		OriGene 3'-UTR Clone (see all 2): VCL Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat VCL
		8/70 QIAGEN miScript miRNA Assays for microRNAs that regulate VCL (see all 70):
		hsa-miR-300 hsa-miR-106a hsa-miR-3074-3p hsa-miR-93 hsa-miR-376a* hsa-miR-4293 hsa-miR-92b hsa-miR-3612

		SwitchGear 3'UTR luciferase reporter plasmid: VCL 3' UTR sequence

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		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for VCL (see all 7) OriGene shRNA RFP: VCL OriGene siRNA: VCL
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		GenScript: all cDNA clones in your preferred vector (see all 2): VCL (NM_014000)
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		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat VCL
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat VCL

Additional cDNA sequence:

AK055524.1 AK126978.1 AK296509.1 AK300280.1 AK304823.1 AL832130.1 BC013847.1 BC039174.1

M33308.1

24/26 DOTS entries (see all 26):

DT.91768787 DT.100725860 DT.92411715 DT.91768786 DT.101959960 DT.87008295 DT.95366359 DT.95095432

DT.91825146 DT.95159491 DT.100030402 DT.121291153 DT.100030408 DT.100030403 DT.100827836 DT.100827838

DT.100827845 DT.121291034 DT.121291095 DT.40225418 DT.86846851 DT.91650533 DT.91812583 DT.95340721

24/504 AceView cDNA sequences (see all 504):

AU125243 BG260419 CB137576 BU677780 AA334985 CA436846 CN484923 BE907176

BM737598 AI242365 BM837743 CR612677 AI750560 AW438657 BM726240 AU133247

AL048129 T27752 BQ218824 BU686623 W76280 BE898551 NM_003373 BF993747

GeneLoc Exon Structure

5/12 Alternative Splicing Database (ASD) splice patterns (SP) for VCL (see all 12) About this scheme

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:					-						-		-		-		-		-		-		-		-		-		-		-		-		-		-		-		-		-						-

ExUns:	17c	^	18	^	19	^	20	^	21	^	22a	·	22b	^	23a	·	23b	^	24a	·	24b	·	24c	·	24d
SP1:					-				-		-				-
SP2:					-				-		-				-
SP3:					-						-				-
SP4:									-		-				-
SP5:

ECgene alternative splicing isoforms for VCL

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

VCL expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TTTGCTCTCC

About this image

VCL expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

3 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Endothelium

Veins

Vascular Smooth Muscle Cells

Selective marker (cell-identifying gene)

Smooth Muscle

Heart

Aortic Arch Arteries

Vascular Smooth Muscle Cells

Myocardium, Neural Crest, Smooth Muscle

Heart

Endocardium

Vascular Smooth Muscle Cells

Smooth Muscle

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 4 LifeMap Cells

Name

Category

Paraxial mesoderm-derived smooth muscle cells (Generation of human ...)

Lateral plate mesoderm-derived smooth muscle cells (Generation of human ...)

Endothelial -like cells (Isolation of vascula...)

Endothelial-like cells (Isolation of vascula...)

See VCL Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for VCL

SOURCE GeneReport for Unigene cluster: Hs.643896

UniProtKB/Swiss-Prot: VINC_HUMAN, P18206

Tissue specificity: Metavinculin is muscle-specific

SABiosciences Expression via Pathway-Focused PCR Arrays including VCL:

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Adherens Junctions in human mouse rat

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Cell Motility in human mouse rat

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for VCL gene from 6/24 species (see all 24) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	VCL¹	vinculin	79.96(n) 92.12(a)		396422 NM_205441.1 NP_990772.1
lizard (Anolis carolinensis)	Reptilia	VCL⁶	--	91(a)	1 ↔ 1	GL343196.1(1937166-2034760)
African clawed frog (Xenopus laevis)	Amphibia	vcl-A²	vinculin/metavinculin	76.34(n)		Z19541.1
zebrafish (Danio rerio)	Actinopterygii	vcl¹	vinculin	75.99(n) 85.93(a)		552980 NM_001128681.1 NP_001122153.1
fruit fly (Drosophila melanogaster)	Insecta	Vinc³	cytoskeletal anchoring actin binding	37(a)		--
worm (Caenorhabditis elegans)	Secernentea	deb-1³	--	39(a)		IV(7085876-7094454) --

ENSEMBL Gene Tree for VCL (if available)
TreeFam Gene Tree for VCL (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for VCL gene

CTNNA1² CTNNA2² CTNNA3² CTNNAL1²

VCL for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
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SNP ID	Valid	Clinical significance	Chr 10 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs56413529^1,2	C,F,	non-pathogenic	81082417(+)	`GAAGAT/CGCCTG`	4	/D	syn¹		7		NS WA CSA NA EU	6049
rs56314318^1,2	C,F,	non-pathogenic	81086536(+)	`TCAAGG/AGGCAT`	4	/R	syn¹		7		NS WA CSA NA EU	6071
rs121917776^1,2	C	pathogenic	81045168(+)	`TGCATC/TGGGAA`	3	R W	mis¹ int¹		0	--	--	--	--
rs71579353^1,2	C	pathogenic	81074807(+)	`CCAAAA/CTGAAC`	4	M L	mis¹		0	--	--	--	--
rs140766884^1,2	C,F	probable-non-pathogenic	81053439(+)	`CAGGTG/AGTCTC`	4	/V	syn¹		2		NA EU	5873
rs139312390^1,2	C,F	other	81082497(+)	`AAAATC/TGCAAT`	4	R C	mis¹		2		NA EU	5701
rs4511236^1,2	C,H	--	69751828(+)	`CGAATT/CTGAAG`	2	--	us2k¹		5		NS EA NA	420
rs199792517^1,2	C	--	69751857(+)	`GATGTC/TTNNNN`	2	--	us2k¹		0	--	--	--	--
rs72816348^1,2	C,F,	--	69752266(+)	`NNNNCA/GTTTGC`	2	--	us2k¹		1		NA	120
rs116507294^1,2	C,F,	--	69752293(+)	`GATGCA/CCAGCA`	2	--	us2k¹		1		WA	118

HapMap Linkage Disequilibrium report for VCL (75757872 - 75879918 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for VCL
1 Indel: 11485
Human Gene Mutation Database (HGMD): VCL

SABiosciences Cancer Mutation PCR Assays

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

VCL for disorders           About GeneDecksing

OMIM gene information: 193065
OMIM disorders: 611407  613255
UniProtKB/Swiss-Prot: VINC_HUMAN, P18206

Defects in VCL are the cause of cardiomyopathy dilated type 1W (CMD1W) [MIM:611407]. Dilated cardiomyopathy is

a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure

and arrhythmia. Patients are at risk of premature death

Defects in VCL are the cause of familial hypertrophic cardiomyopathy type 15 (CMH15) [MIM:613255]. It is 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

20/57 diseases for VCL (see all 57): About MalaCards

congestive heart failure dilated cardiomyopathy cardiomyopathy cardiomyopathy, familial hypertrophic, 15

hailey-hailey disease quebec platelet disorder retinol binding protein muscular dystrophy

becker muscular dystrophy duchenne muscular dystrophy sarcoglycanopathies hypertrophic cardiomyopathy

neuromuscular disease monocytic leukemia acute monocytic leukemia coronary arteriosclerosis

ischemic heart disease oral squamous cell carcinoma handedness squamous cell carcinoma

2 diseases from the University of Copenhagen DISEASES database for VCL:

Dilated cardiomyopathy Cancer

10/42 Novoseek disease relationships for VCL gene (see all 42) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
dilated cardiomyopathy	41.5	17	8712941 (3), 11815424 (2), 7774871 (1), 16236538 (1) (see all 11)
muscular dystrophy becker	38.7	1	9466596 (1)
shigellosis	23.7	2	10021367 (1), 9298981 (1)
muscular dystrophy duchenne	18.3	1	1513465 (1)
darier disease	17.7	1	7537767 (1)
cardiomyopathy	16.8	3	16236538 (1), 20502710 (1), 16712796 (1)
metastasis	11.8	8	9385927 (2), 19916745 (2), 19714817 (1), 8639463 (1) (see all 5)
hypertrophy	11.6	4	16949038 (1)
pemphigus vulgaris	11	1	18327013 (1)
melanoma	4.72	1	8221907 (1)

GeneTests: VCL

Dilated Cardiomyopathy

Human Genome Epidemiology (HuGE) Navigator: VCL (9 documents)

Export disorders for VCL gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for VCL gene, integrated from 9 sources (see all 627):
(articles sorted by number of sources associating them with VCL)

Utopia: connect your pdf to the dynamic
world of online information

An additional exon in the human vinculin gene specifically encodes meta-vinculin-specific difference peptide. Cross-species comparison reveals variable and conserved motifs in the meta-vinculin insert. (PubMed id 1339348)^{1, 2, 3} Koteliansky V.E.... Small J.V. (1992)
The phosphorylation of vinculin on tyrosine residues 100 and 1065, mediated by SRC kinases, affects cell spreading. (PubMed id 15229287)^{1, 2, 9} Zhang Z....Haimovich B. (2004)
Human alpha-synemin interacts directly with vinculin and metavinculin. (PubMed id 18028034)^{1, 2, 9} Sun N.... Robson R.M. (2008)
Identification of a metavinculin missense mutation, R975W, associated with both hypertrophic and dilated cardiomyopathy. (PubMed id 16236538)^{1, 2, 9} Vasile V.C....Ackerman M.J. (2006)
A missense mutation in a ubiquitously expressed protein, vinculin, confers susceptibility to hypertrophic cardiomyopathy. (PubMed id 16712796)^{1, 2, 9} Vasile V.C.... Ackerman M.J. (2006)
Structural basis for amplifying vinculin activation by talin. (PubMed id 15070891)^{1, 2, 9} Izard T. and Vonrhein C. (2004)
Vinculin activation by talin through helical bundle conversion. (PubMed id 14702644)^{1, 2, 9} Izard T.... Bois P.R.J. (2004)
Complete sequence of human vinculin and assignment of the gene to chromosome 10. (PubMed id 2116004)^{1, 2, 9} Weller P.A.... Critchley D.R. (1990)
Organization of the human gene encoding the cytoskeletal protein vinculin and the sequence of the vinculin promoter. (PubMed id 8440716)^{1, 2, 9} Moiseyeva E.P.... Critchley D.R. (1993)
Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)^{1, 2} Olsen J.V....Mann M. (2006)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 7414	HGNC: 12665	AceView: VCL	Ensembl:ENSG00000035403	euGenes: HUgn7414
ECgene: VCL	Kegg: 7414	H-InvDB: VCL

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for VCL	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for VCL	Genetics and Cytogenetics in Oncology and Haematology
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/VCL
Wikipedia	http://en.wikipedia.org/wiki/Vinculin

Intellectual Property for VCL gene
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Patent Information for VCL gene:
Search GeneIP for patents involving VCL

GeneCards and IP:
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