Atlas of Genetics and Cytogenetics in Oncology and Haematology

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ITGA3 (integrin subunit alpha 3)

Identity

Alias_namesMSK18
antigen identified by monoclonal antibody J143
integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)
Alias_symbol (synonym)CD49c
VLA3a
VCA-2
GAP-B3
Other aliasCD49C
FRP-2
GAPB3
ILNEB
VL3A
HGNC (Hugo) ITGA3
LocusID (NCBI) 3675
Atlas_Id 41004
Location 17q21.33  [Link to chromosome band 17q21]
Location_base_pair Starts at 50055968 and ends at 50090485 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)
GBE1 (3p12.2) / ITGA3 (17q21.33)ITGA3 (17q21.33) / EMC9 (14q12)ITGA3 (17q21.33) / KHK (2p23.3)
ITGA3 (17q21.33) / LAMB3 (1q32.2)ITGA3 (17q21.33) / MIEN1 (17q12)ITGA3 (17q21.33) / PPP1R3F (Xp11.23)
ITGA3 (17q21.33) / ZDHHC2 (8p22)MED13 (17q23.2) / ITGA3 (17q21.33)SOX7 (8p23.1) / ITGA3 (17q21.33)
USP54 (10q22.2) / ITGA3 (17q21.33)ITGA3 17q21.33 C17orf37MED13 17q23.2 / ITGA3 17q21.33

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) [ 3 ]
  t(2;17)(p23;q21) ITGA3/KHK
t(17;17)(q12;q21) ITGA3/MIEN1
t(17;17)(q21;q23) MED13/ITGA3

External links

Nomenclature
HGNC (Hugo)ITGA3   6139
Cards
Entrez_Gene (NCBI)ITGA3  3675  integrin subunit alpha 3
AliasesCD49C; FRP-2; GAP-B3; GAPB3; 
ILNEB; MSK18; VCA-2; VL3A; VLA3a
GeneCards (Weizmann)ITGA3
Ensembl hg19 (Hinxton)ENSG00000005884 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000005884 [Gene_View]  chr17:50055968-50090485 [Contig_View]  ITGA3 [Vega]
ICGC DataPortalENSG00000005884
TCGA cBioPortalITGA3
AceView (NCBI)ITGA3
Genatlas (Paris)ITGA3
WikiGenes3675
SOURCE (Princeton)ITGA3
Genetics Home Reference (NIH)ITGA3
Genomic and cartography
GoldenPath hg38 (UCSC)ITGA3  -     chr17:50055968-50090485 +  17q21.33   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ITGA3  -     17q21.33   [Description]    (hg19-Feb_2009)
EnsemblITGA3 - 17q21.33 [CytoView hg19]  ITGA3 - 17q21.33 [CytoView hg38]
Mapping of homologs : NCBIITGA3 [Mapview hg19]  ITGA3 [Mapview hg38]
OMIM605025   614748   
Gene and transcription
Genbank (Entrez)AB209658 AK090532 AK091950 AK092023 AK095140
RefSeq transcript (Entrez)NM_002204 NM_005501
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ITGA3
Cluster EST : UnigeneHs.660689 [ NCBI ]
CGAP (NCI)Hs.660689
Alternative Splicing GalleryENSG00000005884
Gene ExpressionITGA3 [ NCBI-GEO ]   ITGA3 [ EBI - ARRAY_EXPRESS ]   ITGA3 [ SEEK ]   ITGA3 [ MEM ]
Gene Expression Viewer (FireBrowse)ITGA3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)3675
GTEX Portal (Tissue expression)ITGA3
Human Protein AtlasENSG00000005884-ITGA3 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP26006   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP26006  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP26006
Splice isoforms : SwissVarP26006
PhosPhoSitePlusP26006
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_alpha2 (PF08441)   
Domain families : Pfam (NCBI)pfam01839    pfam08441   
Domain families : Smart (EMBL)Int_alpha (SM00191)  
Conserved Domain (NCBI)ITGA3
DMDM Disease mutations3675
Blocks (Seattle)ITGA3
SuperfamilyP26006
Human Protein Atlas [tissue]ENSG00000005884-ITGA3 [tissue]
Peptide AtlasP26006
HPRD05431
IPIIPI00290043   IPI00215995   IPI00965926   IPI01012463   IPI00963993   IPI00965346   
Protein Interaction databases
DIP (DOE-UCLA)P26006
IntAct (EBI)P26006
FunCoupENSG00000005884
BioGRIDITGA3
STRING (EMBL)ITGA3
ZODIACITGA3
Ontologies - Pathways
QuickGOP26006
Ontology : AmiGOneuron migration  fibronectin binding  protease binding  integrin binding  protein binding  collagen binding  plasma membrane  plasma membrane  focal adhesion  cell-matrix adhesion  integrin-mediated signaling pathway  heart development  memory  integrin complex  external side of plasma membrane  cell surface  cell surface  positive regulation of gene expression  positive regulation of epithelial cell migration  positive regulation of cell-substrate adhesion  positive regulation of neuron projection development  basolateral plasma membrane  regulation of transforming growth factor beta receptor signaling pathway  protein domain specific binding  regulation of Wnt signaling pathway  extracellular matrix organization  lung development  growth cone  regulation of BMP signaling pathway  negative regulation of cell projection organization  filopodium membrane  integrin alpha3-beta1 complex  integrin alpha3-beta1 complex  response to gonadotropin  negative regulation of Rho protein signal transduction  exploration behavior  response to drug  receptor complex  laminin binding  skin development  metal ion binding  protein heterodimerization activity  mesodermal cell differentiation  perinuclear region of cytoplasm  leukocyte migration  excitatory synapse  maternal process involved in female pregnancy  extracellular exosome  invadopodium membrane  cell periphery  nephron development  synaptic membrane  dendritic spine maintenance  renal filtration  positive regulation of protein localization to plasma membrane  
Ontology : EGO-EBIneuron migration  fibronectin binding  protease binding  integrin binding  protein binding  collagen binding  plasma membrane  plasma membrane  focal adhesion  cell-matrix adhesion  integrin-mediated signaling pathway  heart development  memory  integrin complex  external side of plasma membrane  cell surface  cell surface  positive regulation of gene expression  positive regulation of epithelial cell migration  positive regulation of cell-substrate adhesion  positive regulation of neuron projection development  basolateral plasma membrane  regulation of transforming growth factor beta receptor signaling pathway  protein domain specific binding  regulation of Wnt signaling pathway  extracellular matrix organization  lung development  growth cone  regulation of BMP signaling pathway  negative regulation of cell projection organization  filopodium membrane  integrin alpha3-beta1 complex  integrin alpha3-beta1 complex  response to gonadotropin  negative regulation of Rho protein signal transduction  exploration behavior  response to drug  receptor complex  laminin binding  skin development  metal ion binding  protein heterodimerization activity  mesodermal cell differentiation  perinuclear region of cytoplasm  leukocyte migration  excitatory synapse  maternal process involved in female pregnancy  extracellular exosome  invadopodium membrane  cell periphery  nephron development  synaptic membrane  dendritic spine maintenance  renal filtration  positive regulation of protein localization to plasma membrane  
Pathways : KEGGHematopoietic cell lineage    ECM-receptor interaction    Regulation of actin cytoskeleton    Focal adhesion   
NDEx NetworkITGA3
Atlas of Cancer Signalling NetworkITGA3
Wikipedia pathwaysITGA3
Orthology - Evolution
OrthoDB3675
GeneTree (enSembl)ENSG00000005884
Phylogenetic Trees/Animal Genes : TreeFamITGA3
HOVERGENP26006
HOGENOMP26006
Homologs : HomoloGeneITGA3
Homology/Alignments : Family Browser (UCSC)ITGA3
Gene fusions - Rearrangements
Fusion : MitelmanITGA3/KHK [17q21.33/2p23.3]  
Fusion : MitelmanITGA3/MIEN1 [17q21.33/17q12]  [t(17;17)(q12;q21)]  
Fusion : MitelmanMED13/ITGA3 [17q23.2/17q21.33]  [t(17;17)(q21;q23)]  
Fusion: TCGA_MDACCITGA3 17q21.33 C17orf37 LUAD
Fusion: TCGA_MDACCMED13 17q23.2 ITGA3 17q21.33 BRCA
Fusion PortalITGA3 17q21.33 C17orf37 LUAD
Fusion PortalMED13 17q23.2 ITGA3 17q21.33 BRCA
Fusion : QuiverITGA3
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerITGA3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ITGA3
dbVarITGA3
ClinVarITGA3
1000_GenomesITGA3 
Exome Variant ServerITGA3
ExAC (Exome Aggregation Consortium)ENSG00000005884
GNOMAD BrowserENSG00000005884
Genetic variants : HAPMAP3675
Genomic Variants (DGV)ITGA3 [DGVbeta]
DECIPHERITGA3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisITGA3 
Mutations
ICGC Data PortalITGA3 
TCGA Data PortalITGA3 
Broad Tumor PortalITGA3
OASIS PortalITGA3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICITGA3  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDITGA3
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 ITGA3
DgiDB (Drug Gene Interaction Database)ITGA3
DoCM (Curated mutations)ITGA3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ITGA3 (select a term)
intoGenITGA3
Cancer3DITGA3(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM605025    614748   
Orphanet21219   
DisGeNETITGA3
MedgenITGA3
Genetic Testing Registry ITGA3
NextProtP26006 [Medical]
TSGene3675
GENETestsITGA3
Target ValidationITGA3
Huge Navigator ITGA3 [HugePedia]
snp3D : Map Gene to Disease3675
BioCentury BCIQITGA3
ClinGenITGA3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD3675
Chemical/Pharm GKB GenePA29939
Clinical trialITGA3
Miscellaneous
canSAR (ICR)ITGA3 (select the gene name)
Probes
Litterature
PubMed219 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineITGA3
EVEXITGA3
GoPubMedITGA3
iHOPITGA3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Feb 28 13:18:28 CET 2018
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