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VCL (vinculin)

Identity

Alias (NCBI)CMD1W
CMH15
HEL114
MV
MVCL
HGNC (Hugo) VCL
HGNC Alias namemetavinculin
LocusID (NCBI) 7414
Atlas_Id 42785
Location 10q22.2  [Link to chromosome band 10q22]
Location_base_pair Starts at 73998116 and ends at 74120168 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
C10orf11 (10q22.2) / VCL (10q22.2)KIF1C (17p13.2) / VCL (10q22.2)PPP1R10 (6p21.33) / VCL (10q22.2)
SLC44A2 (19p13.2) / VCL (10q22.2)VCL (10q22.2) / ABCC8 (11p15.1)VCL (10q22.2) / ADK (10q22.2)
VCL (10q22.2) / ALK (2p23.2)VCL (10q22.2) / FGFR2 (10q26.13)VCL (10q22.2) / NTRK2 (9q21.33)
VCL (10q22.2) / SEC24C (10q22.2)VCL (10q22.2) / SFTPD (10q22.3)VCL (10q22.2) / VCL (10q22.2)
VCL (10q22.2) / ZSWIM8 (10q22.2)VCL 10q22.2 / ALK 2p23.2C10orf11 10q22.2 / VCL 10q22.2
VCL 10q22.2 / FGFR2 10q26.13VCL 10q22.2 KIAA0913VCL 10q22.2 / SEC24C 10q22.2
VCL 10q22.2 / SFTPD 10q22.3

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

Other Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(4;11)(q35;q23) KMT2A/SORBS2

External links

 

Nomenclature
HGNC (Hugo)VCL   12665
LRG (Locus Reference Genomic)LRG_383
Cards
Entrez_Gene (NCBI)VCL    vinculin
AliasesCMD1W; CMH15; HEL114; MV; 
MVCL
GeneCards (Weizmann)VCL
Ensembl hg19 (Hinxton)ENSG00000035403 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000035403 [Gene_View]  ENSG00000035403 [Sequence]  chr10:73998116-74120168 [Contig_View]  VCL [Vega]
ICGC DataPortalENSG00000035403
TCGA cBioPortalVCL
AceView (NCBI)VCL
Genatlas (Paris)VCL
SOURCE (Princeton)VCL
Genetics Home Reference (NIH)VCL
Genomic and cartography
GoldenPath hg38 (UCSC)VCL  -     chr10:73998116-74120168 +  10q22.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)VCL  -     10q22.2   [Description]    (hg19-Feb_2009)
GoldenPathVCL - 10q22.2 [CytoView hg19]  VCL - 10q22.2 [CytoView hg38]
ImmunoBaseENSG00000035403
Genome Data Viewer NCBIVCL [Mapview hg19]  
OMIM193065   611407   613255   
Gene and transcription
Genbank (Entrez)AA368699 AI290052 AK126978 AK296509 AK300280
RefSeq transcript (Entrez)NM_003373 NM_014000
Consensus coding sequences : CCDS (NCBI)VCL
Gene ExpressionVCL [ NCBI-GEO ]   VCL [ EBI - ARRAY_EXPRESS ]   VCL [ SEEK ]   VCL [ MEM ]
Gene Expression Viewer (FireBrowse)VCL [ Firebrowse - Broad ]
GenevisibleExpression of VCL in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)7414
GTEX Portal (Tissue expression)VCL
Human Protein AtlasENSG00000035403-VCL [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP18206   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP18206  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP18206
PhosPhoSitePlusP18206
Domaine pattern : Prosite (Expaxy)VINCULIN_1 (PS00663)    VINCULIN_2 (PS00664)   
Domains : Interpro (EBI)Alpha-catenin/vinculin-like_sf    Vinculin    Vinculin/catenin    Vinculin_CS   
Domain families : Pfam (Sanger)Vinculin (PF01044)   
Domain families : Pfam (NCBI)pfam01044   
Conserved Domain (NCBI)VCL
PDB (RSDB)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   
PDB Europe1RKC    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   
PDB (PDBSum)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   
PDB (IMB)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   
Structural Biology KnowledgeBase1RKC    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   
SCOP (Structural Classification of Proteins)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   
CATH (Classification of proteins structures)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   
SuperfamilyP18206
AlphaFold pdb e-kbP18206   
Human Protein Atlas [tissue]ENSG00000035403-VCL [tissue]
HPRD01900
Protein Interaction databases
DIP (DOE-UCLA)P18206
IntAct (EBI)P18206
BioGRIDVCL
STRING (EMBL)VCL
ZODIACVCL
Ontologies - Pathways
QuickGOP18206
Ontology : AmiGOmorphogenesis of an epithelium  podosome  dystroglycan binding  platelet degranulation  actin binding  actin binding  structural molecule activity  protein binding  extracellular region  cytosol  cytoskeleton  cell-cell junction  cell-cell junction  adherens junction  adherens junction  fascia adherens  focal adhesion  focal adhesion  focal adhesion  focal adhesion  muscle contraction  cell adhesion  cell-matrix adhesion  beta-catenin binding  lamellipodium assembly  cell-substrate junction  negative regulation of cell migration  ubiquitin protein ligase binding  protein-containing complex  adherens junction assembly  protein localization to cell surface  secretory granule lumen  specific granule lumen  maintenance of blood-brain barrier  sarcolemma  costamere  costamere  apical junction assembly  neutrophil degranulation  cell-cell contact zone  alpha-catenin binding  cadherin binding  cadherin binding  axon extension  regulation of focal adhesion assembly  extracellular exosome  platelet aggregation  epithelial cell-cell adhesion  regulation of establishment of endothelial barrier  extracellular vesicle  regulation of protein localization to adherens junction  ficolin-1-rich granule lumen  
Ontology : EGO-EBImorphogenesis of an epithelium  podosome  dystroglycan binding  platelet degranulation  actin binding  actin binding  structural molecule activity  protein binding  extracellular region  cytosol  cytoskeleton  cell-cell junction  cell-cell junction  adherens junction  adherens junction  fascia adherens  focal adhesion  focal adhesion  focal adhesion  focal adhesion  muscle contraction  cell adhesion  cell-matrix adhesion  beta-catenin binding  lamellipodium assembly  cell-substrate junction  negative regulation of cell migration  ubiquitin protein ligase binding  protein-containing complex  adherens junction assembly  protein localization to cell surface  secretory granule lumen  specific granule lumen  maintenance of blood-brain barrier  sarcolemma  costamere  costamere  apical junction assembly  neutrophil degranulation  cell-cell contact zone  alpha-catenin binding  cadherin binding  cadherin binding  axon extension  regulation of focal adhesion assembly  extracellular exosome  platelet aggregation  epithelial cell-cell adhesion  regulation of establishment of endothelial barrier  extracellular vesicle  regulation of protein localization to adherens junction  ficolin-1-rich granule lumen  
Pathways : BIOCARTARho cell motility signaling pathway [Genes]    Integrin Signaling Pathway [Genes]    Cell to Cell Adhesion Signaling [Genes]   
Pathways : KEGGFocal adhesion    Adherens junction    Leukocyte transendothelial migration    Regulation of actin cytoskeleton    Bacterial invasion of epithelial cells    Shigellosis    Amoebiasis   
NDEx NetworkVCL
Atlas of Cancer Signalling NetworkVCL
Wikipedia pathwaysVCL
Orthology - Evolution
OrthoDB7414
GeneTree (enSembl)ENSG00000035403
Phylogenetic Trees/Animal Genes : TreeFamVCL
Homologs : HomoloGeneVCL
Homology/Alignments : Family Browser (UCSC)VCL
Gene fusions - Rearrangements
Fusion : MitelmanC10orf11/VCL [10q22.2/10q22.2]  
Fusion : MitelmanVCL/ABCC8 [10q22.2/11p15.1]  
Fusion : MitelmanVCL/ALK [10q22.2/2p23.2]  
Fusion : MitelmanVCL/FGFR2 [10q22.2/10q26.13]  
Fusion : MitelmanVCL/NTRK2 [10q22.2/9q21.33]  
Fusion : MitelmanVCL/SEC24C [10q22.2/10q22.2]  
Fusion : MitelmanVCL/SFTPD [10q22.2/10q22.3]  
Fusion : MitelmanVCL/ZSWIM8 [10q22.2/10q22.2]  
Fusion : QuiverVCL
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerVCL [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)VCL
dbVarVCL
ClinVarVCL
MonarchVCL
1000_GenomesVCL 
Exome Variant ServerVCL
GNOMAD BrowserENSG00000035403
Varsome BrowserVCL
ACMGVCL variants
VarityP18206
Genomic Variants (DGV)VCL [DGVbeta]
DECIPHERVCL [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisVCL 
Mutations
ICGC Data PortalVCL 
TCGA Data PortalVCL 
Broad Tumor PortalVCL
OASIS PortalVCL [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICVCL  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DVCL
Mutations and Diseases : HGMDVCL
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaVCL
DgiDB (Drug Gene Interaction Database)VCL
DoCM (Curated mutations)VCL
CIViC (Clinical Interpretations of Variants in Cancer)VCL
Cancer3DVCL
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM193065    611407    613255   
Orphanet635   
DisGeNETVCL
MedgenVCL
Genetic Testing Registry VCL
NextProtP18206 [Medical]
GENETestsVCL
Target ValidationVCL
Huge Navigator VCL [HugePedia]
ClinGenVCL
Clinical trials, drugs, therapy
MyCancerGenomeVCL
Protein Interactions : CTDVCL
Pharm GKB GenePA37288
PharosP18206
Clinical trialVCL
Miscellaneous
canSAR (ICR)VCL
HarmonizomeVCL
DataMed IndexVCL
Probes
Litterature
PubMed239 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXVCL
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 15:37:57 CEST 2021
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