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ITGAV (integrin subunit alpha V)

Identity

Alias_namesVNRA
MSK8
VTNR
antigen identified by monoclonal antibody L230
vitronectin receptor
integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51)
integrin, alpha V
Alias_symbol (synonym)CD51
Other alias
HGNC (Hugo) ITGAV
LocusID (NCBI) 3685
Atlas_Id 41015
Location 2q32.1  [Link to chromosome band 2q32]
Location_base_pair Starts at 187464932 and ends at 187545629 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
ITGAV (2q32.1) / ANKHD1 (5q31.3)ITGAV (2q32.1) / FARP2 (2q37.3)ITGAV (2q32.1) / ITGAV (2q32.1)
ITGAV (2q32.1) / PDE11A (2q31.2)ITGAV (2q32.1) / PTPRD (9p24.1)PARM1 (4q13.3) / ITGAV (2q32.1)
ITGAV 2q32.1 / FARP2 2q37.3ITGAV 2q32.1 / PDE11A 2q31.2

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 Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  Skin: Melanoma


External links

Nomenclature
HGNC (Hugo)ITGAV   6150
Cards
Entrez_Gene (NCBI)ITGAV  3685  integrin subunit alpha V
AliasesCD51; MSK8; VNRA; VTNR
GeneCards (Weizmann)ITGAV
Ensembl hg19 (Hinxton)ENSG00000138448 [Gene_View]  chr2:187464932-187545629 [Contig_View]  ITGAV [Vega]
Ensembl hg38 (Hinxton)ENSG00000138448 [Gene_View]  chr2:187464932-187545629 [Contig_View]  ITGAV [Vega]
ICGC DataPortalENSG00000138448
TCGA cBioPortalITGAV
AceView (NCBI)ITGAV
Genatlas (Paris)ITGAV
WikiGenes3685
SOURCE (Princeton)ITGAV
Genetics Home Reference (NIH)ITGAV
Genomic and cartography
GoldenPath hg19 (UCSC)ITGAV  -     chr2:187464932-187545629 +  2q32.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)ITGAV  -     2q32.1   [Description]    (hg38-Dec_2013)
EnsemblITGAV - 2q32.1 [CytoView hg19]  ITGAV - 2q32.1 [CytoView hg38]
Mapping of homologs : NCBIITGAV [Mapview hg19]  ITGAV [Mapview hg38]
OMIM193210   
Gene and transcription
Genbank (Entrez)AB209894 AK302550 AK302990 AK309711 BC047454
RefSeq transcript (Entrez)NM_001144999 NM_001145000 NM_002210
RefSeq genomic (Entrez)NC_000002 NC_018913 NT_005403 NW_004929305
Consensus coding sequences : CCDS (NCBI)ITGAV
Cluster EST : UnigeneHs.436873 [ NCBI ]
CGAP (NCI)Hs.436873
Alternative Splicing GalleryENSG00000138448
Gene ExpressionITGAV [ NCBI-GEO ]   ITGAV [ EBI - ARRAY_EXPRESS ]   ITGAV [ SEEK ]   ITGAV [ MEM ]
Gene Expression Viewer (FireBrowse)ITGAV [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)3685
GTEX Portal (Tissue expression)ITGAV
Protein : pattern, domain, 3D structure
UniProt/SwissProtP06756   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP06756  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP06756
Splice isoforms : SwissVarP06756
PhosPhoSitePlusP06756
Domaine pattern : Prosite (Expaxy)FG_GAP (PS51470)    INTEGRIN_ALPHA (PS00242)   
Domains : Interpro (EBI)FG-GAP    Int_alpha_beta-p    Integrin_alpha    Integrin_alpha-2    Integrin_alpha_C_CS    Integrin_dom   
Domain families : Pfam (Sanger)FG-GAP (PF01839)    Integrin_alpha (PF00357)    Integrin_alpha2 (PF08441)   
Domain families : Pfam (NCBI)pfam01839    pfam00357    pfam08441   
Domain families : Smart (EMBL)Int_alpha (SM00191)  
Conserved Domain (NCBI)ITGAV
DMDM Disease mutations3685
Blocks (Seattle)ITGAV
PDB (SRS)1JV2    1L5G    1M1X    1U8C    3IJE    4G1E    4G1M    4MMX    4MMY    4MMZ    4O02    4UM8    4UM9   
PDB (PDBSum)1JV2    1L5G    1M1X    1U8C    3IJE    4G1E    4G1M    4MMX    4MMY    4MMZ    4O02    4UM8    4UM9   
PDB (IMB)1JV2    1L5G    1M1X    1U8C    3IJE    4G1E    4G1M    4MMX    4MMY    4MMZ    4O02    4UM8    4UM9   
PDB (RSDB)1JV2    1L5G    1M1X    1U8C    3IJE    4G1E    4G1M    4MMX    4MMY    4MMZ    4O02    4UM8    4UM9   
Structural Biology KnowledgeBase1JV2    1L5G    1M1X    1U8C    3IJE    4G1E    4G1M    4MMX    4MMY    4MMZ    4O02    4UM8    4UM9   
SCOP (Structural Classification of Proteins)1JV2    1L5G    1M1X    1U8C    3IJE    4G1E    4G1M    4MMX    4MMY    4MMZ    4O02    4UM8    4UM9   
CATH (Classification of proteins structures)1JV2    1L5G    1M1X    1U8C    3IJE    4G1E    4G1M    4MMX    4MMY    4MMZ    4O02    4UM8    4UM9   
SuperfamilyP06756
Human Protein AtlasENSG00000138448
Peptide AtlasP06756
HPRD01903
IPIIPI00027505   IPI00555991   IPI01009969   IPI00922108   IPI00927691   
Protein Interaction databases
DIP (DOE-UCLA)P06756
IntAct (EBI)P06756
FunCoupENSG00000138448
BioGRIDITGAV
STRING (EMBL)ITGAV
ZODIACITGAV
Ontologies - Pathways
QuickGOP06756
Ontology : AmiGOangiogenesis  virus receptor activity  opsonin binding  fibronectin binding  protease binding  antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent  protein kinase C binding  voltage-gated calcium channel activity  protein binding  plasma membrane  plasma membrane  integral component of plasma membrane  focal adhesion  cell adhesion  cell-matrix adhesion  cell-matrix adhesion  cell-matrix adhesion  integrin-mediated signaling pathway  positive regulation of cell proliferation  integrin complex  integrin complex  external side of plasma membrane  cell surface  cell surface  negative regulation of macrophage derived foam cell differentiation  negative regulation of lipid storage  coreceptor activity  membrane  cell growth  cell migration  C-X3-C chemokine binding  extracellular matrix organization  positive regulation of cell migration  lamellipodium membrane  filopodium membrane  microvillus membrane  cell-substrate adhesion  insulin-like growth factor I binding  negative regulation of lipid transport  ruffle membrane  positive regulation of osteoblast proliferation  heterotypic cell-cell adhesion  substrate adhesion-dependent cell spreading  integrin alphav-beta3 complex  integrin alphav-beta5 complex  integrin alphav-beta8 complex  alphav-beta3 integrin-IGF-1-IGF1R complex  endodermal cell differentiation  apolipoprotein A-I-mediated signaling pathway  apoptotic cell clearance  phagocytic vesicle  negative regulation of low-density lipoprotein particle receptor biosynthetic process  positive regulation of cell adhesion  viral entry into host cell  viral entry into host cell  metal ion binding  vascular endothelial growth factor receptor signaling pathway  transforming growth factor beta binding  negative regulation of lipoprotein metabolic process  regulation of phagocytosis  extracellular matrix binding  leukocyte migration  negative chemotaxis  entry of symbiont into host cell by promotion of host phagocytosis  extracellular exosome  ERK1 and ERK2 cascade  calcium ion transmembrane transport  extrinsic apoptotic signaling pathway in absence of ligand  extracellular matrix protein binding  regulation of apoptotic cell clearance  negative regulation of entry of bacterium into host cell  negative regulation of extrinsic apoptotic signaling pathway  
Ontology : EGO-EBIangiogenesis  virus receptor activity  opsonin binding  fibronectin binding  protease binding  antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent  protein kinase C binding  voltage-gated calcium channel activity  protein binding  plasma membrane  plasma membrane  integral component of plasma membrane  focal adhesion  cell adhesion  cell-matrix adhesion  cell-matrix adhesion  cell-matrix adhesion  integrin-mediated signaling pathway  positive regulation of cell proliferation  integrin complex  integrin complex  external side of plasma membrane  cell surface  cell surface  negative regulation of macrophage derived foam cell differentiation  negative regulation of lipid storage  coreceptor activity  membrane  cell growth  cell migration  C-X3-C chemokine binding  extracellular matrix organization  positive regulation of cell migration  lamellipodium membrane  filopodium membrane  microvillus membrane  cell-substrate adhesion  insulin-like growth factor I binding  negative regulation of lipid transport  ruffle membrane  positive regulation of osteoblast proliferation  heterotypic cell-cell adhesion  substrate adhesion-dependent cell spreading  integrin alphav-beta3 complex  integrin alphav-beta5 complex  integrin alphav-beta8 complex  alphav-beta3 integrin-IGF-1-IGF1R complex  endodermal cell differentiation  apolipoprotein A-I-mediated signaling pathway  apoptotic cell clearance  phagocytic vesicle  negative regulation of low-density lipoprotein particle receptor biosynthetic process  positive regulation of cell adhesion  viral entry into host cell  viral entry into host cell  metal ion binding  vascular endothelial growth factor receptor signaling pathway  transforming growth factor beta binding  negative regulation of lipoprotein metabolic process  regulation of phagocytosis  extracellular matrix binding  leukocyte migration  negative chemotaxis  entry of symbiont into host cell by promotion of host phagocytosis  extracellular exosome  ERK1 and ERK2 cascade  calcium ion transmembrane transport  extrinsic apoptotic signaling pathway in absence of ligand  extracellular matrix protein binding  regulation of apoptotic cell clearance  negative regulation of entry of bacterium into host cell  negative regulation of extrinsic apoptotic signaling pathway  
Pathways : BIOCARTAPhospholipids as signalling intermediaries [Genes]   
Pathways : KEGGPhagosome    PI3K-Akt signaling pathway    Focal adhesion    ECM-receptor interaction    Cell adhesion molecules (CAMs)    Regulation of actin cytoskeleton    Thyroid hormone signaling pathway    Pathways in cancer    Proteoglycans in cancer    Small cell lung cancer    Hypertrophic cardiomyopathy (HCM)    Arrhythmogenic right ventricular cardiomyopathy (ARVC)    Dilated cardiomyopathy   
NDEx NetworkITGAV
Atlas of Cancer Signalling NetworkITGAV
Wikipedia pathwaysITGAV
Orthology - Evolution
OrthoDB3685
GeneTree (enSembl)ENSG00000138448
Phylogenetic Trees/Animal Genes : TreeFamITGAV
HOVERGENP06756
HOGENOMP06756
Homologs : HomoloGeneITGAV
Homology/Alignments : Family Browser (UCSC)ITGAV
Gene fusions - Rearrangements
Fusion : MitelmanITGAV/ANKHD1 [2q32.1/5q31.3]  
Fusion : MitelmanITGAV/FARP2 [2q32.1/2q37.3]  [t(2;2)(q32;q37)]  
Fusion : MitelmanITGAV/PDE11A [2q32.1/2q31.2]  [t(2;2)(q31;q32)]  
Fusion : MitelmanITGAV/PTPRD [2q32.1/9p24.1]  [t(2;9)(q32;p23)]  
Fusion: TCGAITGAV 2q32.1 FARP2 2q37.3 LUSC
Fusion: TCGAITGAV 2q32.1 PDE11A 2q31.2 LUAD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerITGAV [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ITGAV
dbVarITGAV
ClinVarITGAV
1000_GenomesITGAV 
Exome Variant ServerITGAV
ExAC (Exome Aggregation Consortium)ITGAV (select the gene name)
Genetic variants : HAPMAP3685
Genomic Variants (DGV)ITGAV [DGVbeta]
DECIPHER (Syndromes)2:187464932-187545629  ENSG00000138448
CONAN: Copy Number AnalysisITGAV 
Mutations
ICGC Data PortalITGAV 
TCGA Data PortalITGAV 
Broad Tumor PortalITGAV
OASIS PortalITGAV [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICITGAV  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDITGAV
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch ITGAV
DgiDB (Drug Gene Interaction Database)ITGAV
DoCM (Curated mutations)ITGAV (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ITGAV (select a term)
intoGenITGAV
Cancer3DITGAV(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM193210   
Orphanet
MedgenITGAV
Genetic Testing Registry ITGAV
NextProtP06756 [Medical]
TSGene3685
GENETestsITGAV
Huge Navigator ITGAV [HugePedia]
snp3D : Map Gene to Disease3685
BioCentury BCIQITGAV
ClinGenITGAV
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD3685
Chemical/Pharm GKB GenePA29950
Clinical trialITGAV
Miscellaneous
canSAR (ICR)ITGAV (select the gene name)
Probes
Litterature
PubMed495 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineITGAV
EVEXITGAV
GoPubMedITGAV
iHOPITGAV
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 13:11:12 CET 2017

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