ENSG00000005961


Homo sapiens

Features
Gene ID: ENSG00000005961
  
Biological name :ITGA2B
  
Synonyms : integrin subunit alpha 2b / ITGA2B / P08514
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 17
Strand: -1
Band: q21.31
Gene start: 44372180
Gene end: 44389505
  
Corresponding Affymetrix probe sets: 206493_at (Human Genome U133 Plus 2.0 Array)   206494_s_at (Human Genome U133 Plus 2.0 Array)   216956_s_at (Human Genome U133 Plus 2.0 Array)   216966_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000262407
Ensembl peptide - ENSP00000465534
Ensembl peptide - ENSP00000467269
NCBI entrez gene - 3674     See in Manteia.
OMIM - 607759
RefSeq - XM_011524750
RefSeq - NM_000419
RefSeq - XM_011524749
RefSeq Peptide - NP_000410
swissprot - P08514
swissprot - K7EP83
swissprot - K7EKA6
Ensembl - ENSG00000005961
  
Related genetic diseases (OMIM): 187800 - Bleeding disorder, platelet-type, 16, autosomal dominant, 187800
  273800 - Glanzmann thrombasthenia, 273800
  607759 - Thrombocytopenia, neonatal alloimmune, BAK antigen related
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
 itga2bENSDARG00000018687Danio rerio
 Itga2bENSMUSG00000034664Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
ITGA8 / P53708 / integrin subunit alpha 8ENSG0000007794341
ITGA5 / P08648 / integrin subunit alpha 5ENSG0000016163837
ITGAV / P06756 / integrin subunit alpha VENSG0000013844837
ITGA7 / Q13683 / integrin subunit alpha 7ENSG0000013542428
ITGA3 / P26006 / integrin subunit alpha 3ENSG0000000588426
ITGA6 / P23229 / integrin subunit alpha 6ENSG0000009140925
ITGA4 / P13612 / integrin subunit alpha 4ENSG0000011523225
ITGA9 / Q13797 / integrin subunit alpha 9ENSG0000014466823
ITGAM / P11215 / integrin subunit alpha MENSG0000016989621
ITGAX / P20702 / integrin subunit alpha XENSG0000014067821
ITGAD / Q13349 / integrin subunit alpha DENSG0000015688621
ITGA2 / P17301 / integrin subunit alpha 2ENSG0000016417121
ITGA11 / Q9UKX5 / integrin subunit alpha 11ENSG0000013780920
ITGA10 / O75578 / integrin subunit alpha 10ENSG0000014312720
ITGA1 / P56199 / integrin subunit alpha 1ENSG0000021394920
ITGAL / P20701 / integrin subunit alpha LENSG0000000584419
ITGAE / P38570 / integrin subunit alpha EENSG0000008345718


Protein motifs (from Interpro)
Interpro ID Name
 IPR000413  Integrin alpha chain
 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


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0002576 platelet degranulation TAS
 biological_processGO:0002687 positive regulation of leukocyte migration IEA
 biological_processGO:0007155 cell adhesion IEA
 biological_processGO:0007160 cell-matrix adhesion IEA
 biological_processGO:0007229 integrin-mediated signaling pathway IEA
 biological_processGO:0030198 extracellular matrix organization TAS
 biological_processGO:0045652 regulation of megakaryocyte differentiation TAS
 biological_processGO:0070527 platelet aggregation IEA
 cellular_componentGO:0005886 plasma membrane TAS
 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:0031092 platelet alpha granule membrane TAS
 cellular_componentGO:0070062 extracellular exosome IDA
 cellular_componentGO:0072562 blood microparticle HDA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0042802 identical protein binding IPI
 molecular_functionGO:0046872 metal ion binding IEA
 molecular_functionGO:0050840 extracellular matrix binding IEA
 molecular_functionGO:0070051 fibrinogen binding IEA


Pathways (from Reactome)
Pathway description
Platelet degranulation
Integrin cell surface interactions
ECM proteoglycans
Integrin alphaIIb beta3 signaling
GRB2:SOS provides linkage to MAPK signaling for Integrins
p130Cas linkage to MAPK signaling for integrins
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
RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function


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
 ENSG00000109072 VTN / P04004 / vitronectin  / complex / reaction
 ENSG00000103653 CSK / P41240 / C-terminal Src kinase  / complex / reaction
 ENSG00000110799 VWF / P04275 / von Willebrand factor  / reaction / complex
 ENSG00000137801 THBS1 / P07996 / thrombospondin 1  / complex / reaction
 ENSG00000005961 ITGA2B / P08514 / integrin subunit alpha 2b  / reaction / 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
 ENSG00000171557 FGG / P02679 / fibrinogen gamma chain  / reaction / complex
 ENSG00000115414 FN1 / P02751 / fibronectin 1  / reaction / complex
 ENSG00000259207 ITGB3 / P05106 / integrin subunit beta 3  / complex / reaction
 ENSG00000197122 SRC / P12931 / SRC proto-oncogene, non-receptor tyrosine kinase  / complex / reaction
 ENSG00000171560 FGA / P02671 / fibrinogen alpha chain  / reaction / complex
 ENSG00000077420 Q7Z5R6 / APBB1IP / amyloid beta precursor protein binding family B member 1 interacting protein  / complex / reaction
 ENSG00000137076 TLN1 / Q9Y490 / talin 1  / complex / reaction
 ENSG00000171564 FGB / P02675 / fibrinogen beta chain  / reaction / complex
 ENSG00000140992 PDPK1 / O15530 / 3-phosphoinositide dependent protein kinase 1  / reaction
 ENSG00000169398 PTK2 / Q05397 / protein tyrosine kinase 2  / reaction / complex
 ENSG00000142208 AKT1 / P31749 / AKT serine/threonine kinase 1  / reaction
 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  / reaction / complex






 

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