ENSG00000164171


Homo sapiens

Features
Gene ID: ENSG00000164171
  
Biological name :ITGA2
  
Synonyms : integrin subunit alpha 2 / ITGA2 / P17301
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 5
Strand: 1
Band: q11.2
Gene start: 52989326
Gene end: 53094779
  
Corresponding Affymetrix probe sets: 205032_at (Human Genome U133 Plus 2.0 Array)   227314_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000424642
Ensembl peptide - ENSP00000422095
Ensembl peptide - ENSP00000426489
Ensembl peptide - ENSP00000296585
Ensembl peptide - ENSP00000424397
Ensembl peptide - ENSP00000422145
NCBI entrez gene - 3673     See in Manteia.
OMIM - 192974
RefSeq - NM_002203
RefSeq Peptide - NP_002194
swissprot - E7EMF1
swissprot - D6RG08
swissprot - D6R9H3
swissprot - E9PB77
swissprot - P17301
swissprot - E7ESP4
Ensembl - ENSG00000164171
  
Related genetic diseases (OMIM): 614200 - ?Glycoprotein Ia deficiency, 614200
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 itga2.2ENSDARG00000062974Danio rerio
 ITGA2ENSGALG00000014903Gallus gallus
 Itga2ENSMUSG00000015533Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
ITGA1 / P56199 / integrin subunit alpha 1ENSG0000021394940
ITGA11 / Q9UKX5 / integrin subunit alpha 11ENSG0000013780934
ITGA10 / O75578 / integrin subunit alpha 10ENSG0000014312733
ITGAX / P20702 / integrin subunit alpha XENSG0000014067827
ITGAM / P11215 / integrin subunit alpha MENSG0000016989625
ITGAD / Q13349 / integrin subunit alpha DENSG0000015688625
ITGAE / P38570 / integrin subunit alpha EENSG0000008345724
ITGAL / P20701 / integrin subunit alpha LENSG0000000584424
ITGA8 / P53708 / integrin subunit alpha 8ENSG0000007794320
ITGA5 / P08648 / integrin subunit alpha 5ENSG0000016163819
ITGA2B / P08514 / integrin subunit alpha 2bENSG0000000596119
ITGA7 / Q13683 / integrin subunit alpha 7ENSG0000013542419
ITGA4 / P13612 / integrin subunit alpha 4ENSG0000011523219
ITGAV / P06756 / integrin subunit alpha VENSG0000013844819
ITGA6 / P23229 / integrin subunit alpha 6ENSG0000009140919
ITGA9 / Q13797 / integrin subunit alpha 9ENSG0000014466819
ITGA3 / P26006 / integrin subunit alpha 3ENSG0000000588418


Protein motifs (from Interpro)
Interpro ID Name
 IPR000413  Integrin alpha chain
 IPR002035  von Willebrand factor, type A
 IPR013517  FG-GAP repeat
 IPR013519  Integrin alpha beta-propellor
 IPR013649  Integrin alpha-2
 IPR018184  Integrin alpha chain, C-terminal cytoplasmic region, conserved site
 IPR032695  Integrin domain superfamily
 IPR036465  von Willebrand factor A-like domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001666 response to hypoxia IEA
 biological_processGO:0002687 positive regulation of leukocyte migration IEA
 biological_processGO:0006929 substrate-dependent cell migration IMP
 biological_processGO:0006971 hypotonic response IEA
 biological_processGO:0007155 cell adhesion IEA
 biological_processGO:0007160 cell-matrix adhesion TAS
 biological_processGO:0007229 integrin-mediated signaling pathway IEA
 biological_processGO:0007565 female pregnancy IEA
 biological_processGO:0007596 blood coagulation TAS
 biological_processGO:0008283 cell proliferation IEA
 biological_processGO:0009887 animal organ morphogenesis TAS
 biological_processGO:0010634 positive regulation of epithelial cell migration IEA
 biological_processGO:0010694 positive regulation of alkaline phosphatase activity IEA
 biological_processGO:0014070 response to organic cyclic compound IEA
 biological_processGO:0014075 response to amine IEA
 biological_processGO:0014850 response to muscle activity IEA
 biological_processGO:0014911 positive regulation of smooth muscle cell migration IEA
 biological_processGO:0016032 viral process IEA
 biological_processGO:0030198 extracellular matrix organization TAS
 biological_processGO:0030879 mammary gland development IEA
 biological_processGO:0031346 positive regulation of cell projection organization IEA
 biological_processGO:0031589 cell-substrate adhesion IMP
 biological_processGO:0032967 positive regulation of collagen biosynthetic process IEA
 biological_processGO:0033343 positive regulation of collagen binding IEA
 biological_processGO:0033591 response to L-ascorbic acid IEA
 biological_processGO:0033627 cell adhesion mediated by integrin IMP
 biological_processGO:0038065 collagen-activated signaling pathway IMP
 biological_processGO:0042060 wound healing IEA
 biological_processGO:0042493 response to drug IEA
 biological_processGO:0043388 positive regulation of DNA binding IEA
 biological_processGO:0043589 skin morphogenesis IEA
 biological_processGO:0045184 establishment of protein localization IEA
 biological_processGO:0045727 positive regulation of translation IEA
 biological_processGO:0045785 positive regulation of cell adhesion IEA
 biological_processGO:0045987 positive regulation of smooth muscle contraction IEA
 biological_processGO:0046718 viral entry into host cell IEA
 biological_processGO:0048041 focal adhesion assembly IEA
 biological_processGO:0048333 mesodermal cell differentiation IEP
 biological_processGO:0048661 positive regulation of smooth muscle cell proliferation IEA
 biological_processGO:0050729 positive regulation of inflammatory response IEA
 biological_processGO:0050927 positive regulation of positive chemotaxis IEA
 biological_processGO:0050966 detection of mechanical stimulus involved in sensory perception of pain IEA
 biological_processGO:0051971 positive regulation of transmission of nerve impulse IEA
 biological_processGO:0060100 positive regulation of phagocytosis, engulfment IEA
 biological_processGO:0070365 hepatocyte differentiation IEA
 biological_processGO:0071107 response to parathyroid hormone IEA
 biological_processGO:0071260 cellular response to mechanical stimulus IEA
 biological_processGO:0071392 cellular response to estradiol stimulus IEA
 biological_processGO:0071407 cellular response to organic cyclic compound IEA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0005925 focal adhesion IEA
 cellular_componentGO:0008305 integrin complex IEA
 cellular_componentGO:0009897 external side of plasma membrane IEA
 cellular_componentGO:0009986 cell surface IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0030424 axon IEA
 cellular_componentGO:0034666 integrin alpha2-beta1 complex IDA
 cellular_componentGO:0042995 cell projection IEA
 cellular_componentGO:0043679 axon terminus IEA
 cellular_componentGO:0045178 basal part of cell IEA
 cellular_componentGO:0048471 perinuclear region of cytoplasm IEA
 molecular_functionGO:0001540 amyloid-beta binding IEA
 molecular_functionGO:0001618 virus receptor activity IEA
 molecular_functionGO:0005178 integrin binding IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005518 collagen binding IEA
 molecular_functionGO:0038064 collagen receptor activity IMP
 molecular_functionGO:0043236 laminin binding IEA
 molecular_functionGO:0043395 heparan sulfate proteoglycan binding TAS
 molecular_functionGO:0044877 protein-containing complex binding IPI
 molecular_functionGO:0046872 metal ion binding IEA
 molecular_functionGO:0046982 protein heterodimerization activity IEA
 molecular_functionGO:0098639 collagen binding involved in cell-matrix adhesion IMP


Pathways (from Reactome)
Pathway description
Integrin cell surface interactions
Laminin interactions
Syndecan interactions
ECM proteoglycans
CHL1 interactions
Platelet Adhesion to exposed collagen
MET activates PTK2 signaling


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000978 Ecchymoses 
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 HP:0001873 Thrombocytopenia 
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 HP:0003577 Onset at birth 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000139329 LUM / P51884 / lumican  / complex / reaction
 ENSG00000058085 LAMC2 / Q13753 / laminin subunit gamma 2  / reaction / complex
 ENSG00000134121 CHL1 / O00533 / cell adhesion molecule L1 like  / reaction / complex
 ENSG00000142798 HSPG2 / P98160 / heparan sulfate proteoglycan 2  / complex / reaction
 ENSG00000150093 ITGB1 / P05556 / integrin subunit beta 1  / complex
 ENSG00000053747 LAMA3 / Q16787 / laminin subunit alpha 3  / complex / reaction
 ENSG00000196878 LAMB3 / Q13751 / laminin subunit beta 3  / complex / reaction






 

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