ENSG00000259207


Homo sapiens

Features
Gene ID: ENSG00000259207
  
Biological name :ITGB3
  
Synonyms : integrin subunit beta 3 / ITGB3 / P05106
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 17
Strand: 1
Band: q21.32
Gene start: 47253846
Gene end: 47311816
  
Corresponding Affymetrix probe sets: 204625_s_at (Human Genome U133 Plus 2.0 Array)   204626_s_at (Human Genome U133 Plus 2.0 Array)   204627_s_at (Human Genome U133 Plus 2.0 Array)   204628_s_at (Human Genome U133 Plus 2.0 Array)   211579_at (Human Genome U133 Plus 2.0 Array)   215240_at (Human Genome U133 Plus 2.0 Array)   216261_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000461626
Ensembl peptide - ENSP00000452786
Ensembl peptide - ENSP00000465586
NCBI entrez gene - 3690     See in Manteia.
OMIM - 173470
RefSeq - NM_000212
RefSeq Peptide - NP_000203
swissprot - Q16157
swissprot - I3L4X8
swissprot - P05106
Ensembl - ENSG00000259207
  
Related genetic diseases (OMIM): 173470 - Purpura, posttransfusion
  187800 - Bleeding disorder, platelet-type, 16, autosomal dominant, 187800
  273800 - Glanzmann thrombasthenia, 273800
  608446 - {Myocardial infarction, susceptibility to}, 608446
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
 itgb3aENSDARG00000056767Danio rerio
 itgb3bENSDARG00000045070Danio rerio
 ITGB3ENSGALG00000000379Gallus gallus
 Itgb3ENSMUSG00000020689Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
AC068234.1ENSG0000025975396
ITGB5 / P18084 / integrin subunit beta 5ENSG0000008278155
ITGB6 / P18564 / integrin subunit beta 6ENSG0000011522149
ITGB1 / P05556 / integrin subunit beta 1ENSG0000015009343
ITGB2 / P05107 / integrin subunit beta 2ENSG0000016025538
ITGB7 / P26010 / integrin subunit beta 7ENSG0000013962638
ITGB4 / P16144 / integrin subunit beta 4ENSG0000013247035
ITGB8 / P26012 / integrin subunit beta 8ENSG0000010585534
ITGBL1 / O95965 / integrin subunit beta like 1ENSG0000019854216


Protein motifs (from Interpro)
Interpro ID Name
 IPR002369  Integrin beta subunit, VWA domain
 IPR012896  Integrin beta subunit, tail
 IPR013111  EGF-like domain, extracellular
 IPR014836  Integrin beta subunit, cytoplasmic domain
 IPR015812  Integrin beta subunit
 IPR016201  PSI domain
 IPR021157  Cytochrome c1, transmembrane anchor, C-terminal
 IPR027068  Integrin beta-3 subunit
 IPR032695  Integrin domain superfamily
 IPR033760  Integrin beta N-terminal
 IPR036349  Integrin beta tail domain superfamily
 IPR036465  von Willebrand factor A-like domain superfamily
 IPR037076  Integrin beta subunit, cytoplasmic domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001934 positive regulation of protein phosphorylation TAS
 biological_processGO:0001938 positive regulation of endothelial cell proliferation IMP
 biological_processGO:0002576 platelet degranulation TAS
 biological_processGO:0007044 cell-substrate junction assembly IEA
 biological_processGO:0007155 cell adhesion IEA
 biological_processGO:0007160 cell-matrix adhesion IEA
 biological_processGO:0007229 integrin-mediated signaling pathway IEA
 biological_processGO:0007596 blood coagulation TAS
 biological_processGO:0010595 positive regulation of endothelial cell migration IMP
 biological_processGO:0010745 negative regulation of macrophage derived foam cell differentiation IMP
 biological_processGO:0010888 negative regulation of lipid storage IMP
 biological_processGO:0014909 smooth muscle cell migration IMP
 biological_processGO:0016032 viral process IEA
 biological_processGO:0030168 platelet activation IMP
 biological_processGO:0030198 extracellular matrix organization TAS
 biological_processGO:0030334 regulation of cell migration IEA
 biological_processGO:0030949 positive regulation of vascular endothelial growth factor receptor signaling pathway TAS
 biological_processGO:0031589 cell-substrate adhesion IMP
 biological_processGO:0032147 activation of protein kinase activity IMP
 biological_processGO:0032369 negative regulation of lipid transport IMP
 biological_processGO:0033627 cell adhesion mediated by integrin IDA
 biological_processGO:0034113 heterotypic cell-cell adhesion IMP
 biological_processGO:0034446 substrate adhesion-dependent cell spreading IDA
 biological_processGO:0035295 tube development TAS
 biological_processGO:0038027 apolipoprotein A-I-mediated signaling pathway IMP
 biological_processGO:0042060 wound healing IC
 biological_processGO:0043277 apoptotic cell clearance IGI
 biological_processGO:0045124 regulation of bone resorption TAS
 biological_processGO:0045715 negative regulation of low-density lipoprotein particle receptor biosynthetic process IMP
 biological_processGO:0046718 viral entry into host cell IMP
 biological_processGO:0048010 vascular endothelial growth factor receptor signaling pathway TAS
 biological_processGO:0048333 mesodermal cell differentiation IEP
 biological_processGO:0050731 positive regulation of peptidyl-tyrosine phosphorylation IMP
 biological_processGO:0050748 negative regulation of lipoprotein metabolic process IMP
 biological_processGO:0050900 leukocyte migration TAS
 biological_processGO:0050919 negative chemotaxis IMP
 biological_processGO:0060055 angiogenesis involved in wound healing IEA
 biological_processGO:0070527 platelet aggregation IEA
 cellular_componentGO:0005634 nucleus IDA
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0005887 integral component of plasma membrane TAS
 cellular_componentGO:0005925 focal adhesion IEA
 cellular_componentGO:0008305 integrin complex IEA
 cellular_componentGO:0009986 cell surface IDA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0030054 cell junction IEA
 cellular_componentGO:0031092 platelet alpha granule membrane TAS
 cellular_componentGO:0031258 lamellipodium membrane IEA
 cellular_componentGO:0031527 filopodium membrane IDA
 cellular_componentGO:0031528 microvillus membrane IDA
 cellular_componentGO:0032587 ruffle membrane IDA
 cellular_componentGO:0034683 integrin alphav-beta3 complex IDA
 cellular_componentGO:0035866 alphav-beta3 integrin-PKCalpha complex IDA
 cellular_componentGO:0035867 alphav-beta3 integrin-IGF-1-IGF1R complex IDA
 cellular_componentGO:0035868 alphav-beta3 integrin-HMGB1 complex IDA
 cellular_componentGO:0042470 melanosome IDA
 cellular_componentGO:0042995 cell projection IEA
 cellular_componentGO:0043235 receptor complex IDA
 cellular_componentGO:0070062 extracellular exosome HDA
 cellular_componentGO:0071062 alphav-beta3 integrin-vitronectin complex TAS
 molecular_functionGO:0001618 virus receptor activity IEA
 molecular_functionGO:0001968 fibronectin binding IMP
 molecular_functionGO:0002020 protease binding IDA
 molecular_functionGO:0003756 protein disulfide isomerase activity IDA
 molecular_functionGO:0005161 platelet-derived growth factor receptor binding TAS
 molecular_functionGO:0005178 integrin binding IPI
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0015026 coreceptor activity TAS
 molecular_functionGO:0017134 fibroblast growth factor binding IDA
 molecular_functionGO:0019899 enzyme binding IPI
 molecular_functionGO:0019960 C-X3-C chemokine binding IDA
 molecular_functionGO:0031994 insulin-like growth factor I binding IDA
 molecular_functionGO:0038132 neuregulin binding IDA
 molecular_functionGO:0042802 identical protein binding IPI
 molecular_functionGO:0043184 vascular endothelial growth factor receptor 2 binding TAS
 molecular_functionGO:0050839 cell adhesion molecule binding IPI
 molecular_functionGO:0050840 extracellular matrix binding IDA


Pathways (from Reactome)
Pathway description
Platelet degranulation
Elastic fibre formation
PECAM1 interactions
Molecules associated with elastic fibres
Integrin cell surface interactions
Syndecan interactions
ECM proteoglycans
Integrin alphaIIb beta3 signaling
GRB2:SOS provides linkage to MAPK signaling for Integrins
p130Cas linkage to MAPK signaling for integrins
VEGFA-VEGFR2 Pathway
Signal transduction by L1
MAP2K and MAPK activation
Signaling by moderate kinase activity BRAF mutants
Signaling by high-kinase activity BRAF mutants
Signaling by RAS mutants
Signaling by BRAF and RAF fusions
Paradoxical activation of RAF signaling by kinase inactive BRAF


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:0000007 Autosomal recessive 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 homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000132 Menorrhagia 
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 HP:0000225 Gingival bleeding 
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 HP:0000421 Epistaxis 
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 HP:0000967 Petechiae 
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 HP:0000978 Ecchymoses 
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 HP:0000979 Purpura 
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 HP:0001902 Giant platelets 
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 HP:0001903 Anemia 
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 HP:0001975 Glanzmann thrombasthenia 
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 HP:0002170 Intracranial hemorrhage "A hemorrhage (bleeding) occuring within the skull." [HPO:curators]
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 HP:0002239 Gastrointestinal hemorrhage 
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 HP:0003010 Prolonged bleeding time 
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 HP:0003540 Abnormal platelet aggregation 
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 HP:0040185 Macrothrombocytopenia 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000050820 BCAR1 / P56945 / BCAR1, Cas family scaffolding protein  / reaction / complex
 ENSG00000035403 VCL / P18206 / vinculin  / complex
 ENSG00000105664 COMP / P49747 / cartilage oligomeric matrix protein  / complex / reaction
 ENSG00000109072 VTN / P04004 / vitronectin  / complex / reaction
 ENSG00000103653 CSK / P41240 / C-terminal Src kinase  / reaction / complex
 ENSG00000112715 VEGFA / P15692 / vascular endothelial growth factor A  / reaction / complex
 ENSG00000118785 SPP1 / P10451 / secreted phosphoprotein 1  / reaction / complex
 ENSG00000128052 KDR / P35968 / kinase insert domain receptor  / reaction / complex
 ENSG00000110799 VWF / P04275 / von Willebrand factor  / complex / reaction
 ENSG00000137801 THBS1 / P07996 / thrombospondin 1  / complex / reaction
 ENSG00000005961 ITGA2B / P08514 / integrin subunit alpha 2b  / complex / reaction
 ENSG00000140992 PDPK1 / O15530 / 3-phosphoinositide dependent protein kinase 1  / reaction
 ENSG00000171560 FGA / P02671 / fibrinogen alpha chain  / reaction / complex
 ENSG00000171564 FGB / P02675 / fibrinogen beta chain  / reaction / complex
 ENSG00000152592 DMP1 / Q13316 / dentin matrix acidic phosphoprotein 1  / reaction / complex
 ENSG00000115414 FN1 / P02751 / fibronectin 1  / complex / reaction
 ENSG00000041982 TNC / P24821 / tenascin C  / reaction / complex
 ENSG00000166147 FBN1 / P35555 / fibrillin 1  / reaction / complex
 ENSG00000169398 PTK2 / Q05397 / protein tyrosine kinase 2  / reaction / complex
 ENSG00000171557 FGG / P02679 / fibrinogen gamma chain  / complex / reaction
 ENSG00000142208 AKT1 / P31749 / AKT serine/threonine kinase 1  / reaction
 ENSG00000197122 SRC / P12931 / SRC proto-oncogene, non-receptor tyrosine kinase  / reaction / complex
 ENSG00000160691 SHC1 / P29353 / SHC adaptor protein 1  / reaction / complex
 ENSG00000196396 PTPN1 / P18031 / protein tyrosine phosphatase, non-receptor type 1  / reaction
 ENSG00000165025 SYK / P43405 / spleen associated tyrosine kinase  / complex / reaction
 ENSG00000080824 P07900 / HSP90AA1 / heat shock protein 90 alpha family class A member 1  / reaction
 ENSG00000137076 TLN1 / Q9Y490 / talin 1  / complex / reaction
 ENSG00000107338 SHB / Q15464 / SH2 domain containing adaptor protein B  / reaction
 ENSG00000259207 ITGB3 / P05106 / integrin subunit beta 3  / reaction / complex
 ENSG00000138448 ITGAV / P06756 / integrin subunit alpha V  / complex
 ENSG00000116473 RAP1A / P62834 / RAP1A, member of RAS oncogene family  / complex / reaction
 ENSG00000115904 SOS1 / Q07889 / SOS Ras/Rac guanine nucleotide exchange factor 1  / complex / reaction
 ENSG00000177885 GRB2 / P62993 / growth factor receptor bound protein 2  / complex / reaction
 ENSG00000127314 RAP1B / P61224 / RAP1B, member of RAS oncogene family  / reaction / complex
 ENSG00000167193 CRK / P46108 / CRK proto-oncogene, adaptor protein  / reaction / complex
 ENSG00000120899 PTK2B / Q14289 / protein tyrosine kinase 2 beta  / reaction / complex
 ENSG00000029559 IBSP / P21815 / integrin binding sialoprotein  / reaction / complex
 ENSG00000077420 Q7Z5R6 / APBB1IP / amyloid beta precursor protein binding family B member 1 interacting protein  / complex / reaction






 

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