Details for: ITGA2B

Gene ID: 3674

Symbol: ITGA2B

Ensembl ID: ENSG00000005961

Description: integrin subunit alpha 2b

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.6
    Marker Score: 1165
  • Cell Name: mural cell (CL0008034)
    Fold Change: 1.48
    Marker Score: 169709
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 1.15
    Marker Score: 4809
  • Cell Name: erythroid progenitor cell, mammalian (CL0001066)
    Fold Change: 1.1
    Marker Score: 353
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71822
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48047
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30408
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.98
    Marker Score: 504
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.97
    Marker Score: 457
  • Cell Name: germ cell (CL0000586)
    Fold Change: 0.96
    Marker Score: 1682
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2412
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.94
    Marker Score: 5336
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.92
    Marker Score: 368
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2737
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.9
    Marker Score: 608
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.89
    Marker Score: 321
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5284
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.86
    Marker Score: 357
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.77
    Marker Score: 1258
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.77
    Marker Score: 704
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.76
    Marker Score: 391
  • Cell Name: early promyelocyte (CL0002154)
    Fold Change: 0.74
    Marker Score: 596
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.74
    Marker Score: 565
  • Cell Name: primitive red blood cell (CL0002355)
    Fold Change: 0.73
    Marker Score: 547
  • Cell Name: promyelocyte (CL0000836)
    Fold Change: 0.72
    Marker Score: 356.5
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.68
    Marker Score: 174
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.68
    Marker Score: 283
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.62
    Marker Score: 37855
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.58
    Marker Score: 1107
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.56
    Marker Score: 444
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 0.54
    Marker Score: 1354
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 0.53
    Marker Score: 169
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.53
    Marker Score: 340.5
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.52
    Marker Score: 8203
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.51
    Marker Score: 136
  • Cell Name: platelet (CL0000233)
    Fold Change: 0.48
    Marker Score: 218
  • Cell Name: renal beta-intercalated cell (CL0002201)
    Fold Change: 0.45
    Marker Score: 144
  • Cell Name: CD8-positive, alpha-beta cytokine secreting effector T cell (CL0000908)
    Fold Change: 0.45
    Marker Score: 193
  • Cell Name: neuron (CL0000540)
    Fold Change: 0.44
    Marker Score: 1803
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 0.43
    Marker Score: 670
  • Cell Name: CD16-positive, CD56-dim natural killer cell, human (CL0000939)
    Fold Change: 0.42
    Marker Score: 323
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 0.41
    Marker Score: 3879
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 0.4
    Marker Score: 3780
  • Cell Name: primordial germ cell (CL0000670)
    Fold Change: 0.39
    Marker Score: 484
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 0.37
    Marker Score: 337
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.36
    Marker Score: 736
  • Cell Name: megakaryocyte progenitor cell (CL0000553)
    Fold Change: 0.35
    Marker Score: 98
  • Cell Name: kidney proximal convoluted tubule epithelial cell (CL1000838)
    Fold Change: 0.34
    Marker Score: 709
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.34
    Marker Score: 1426
  • Cell Name: oogonial cell (CL0000024)
    Fold Change: 0.34
    Marker Score: 487
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 0.34
    Marker Score: 3494
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 0.32
    Marker Score: 134
  • Cell Name: interneuron (CL0000099)
    Fold Change: 0.3
    Marker Score: 137
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 0.29
    Marker Score: 2512
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.29
    Marker Score: 1121
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.29
    Marker Score: 133
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 0.29
    Marker Score: 5694
  • Cell Name: mesangial cell (CL0000650)
    Fold Change: 0.29
    Marker Score: 345
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 0.28
    Marker Score: 2174
  • Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
    Fold Change: 0.28
    Marker Score: 299
  • Cell Name: hematopoietic precursor cell (CL0008001)
    Fold Change: 0.27
    Marker Score: 96
  • Cell Name: hematopoietic multipotent progenitor cell (CL0000837)
    Fold Change: 0.27
    Marker Score: 130
  • Cell Name: ON retinal ganglion cell (CL4023032)
    Fold Change: 0.26
    Marker Score: 70
  • Cell Name: late promyelocyte (CL0002151)
    Fold Change: 0.26
    Marker Score: 64
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.25
    Marker Score: 149
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: 0.24
    Marker Score: 124
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 0.24
    Marker Score: 8937
  • Cell Name: kidney collecting duct cell (CL1001225)
    Fold Change: 0.23
    Marker Score: 46
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: 0.23
    Marker Score: 159
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.23
    Marker Score: 75
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.23
    Marker Score: 393
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 0.23
    Marker Score: 3418
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: 0.23
    Marker Score: 129
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 0.23
    Marker Score: 8344
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: 0.22
    Marker Score: 933
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.22
    Marker Score: 63
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.22
    Marker Score: 63
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 0.21
    Marker Score: 890
  • Cell Name: A2 amacrine cell (CL0004219)
    Fold Change: 0.21
    Marker Score: 68
  • Cell Name: erythroid progenitor cell (CL0000038)
    Fold Change: 0.21
    Marker Score: 222
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.21
    Marker Score: 72
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: 0.21
    Marker Score: 116
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: 0.21
    Marker Score: 258
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 0.2
    Marker Score: 201
  • Cell Name: eosinophil (CL0000771)
    Fold Change: 0.2
    Marker Score: 64
  • Cell Name: erythroblast (CL0000765)
    Fold Change: 0.19
    Marker Score: 121
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.19
    Marker Score: 442
  • Cell Name: retinal pigment epithelial cell (CL0002586)
    Fold Change: 0.19
    Marker Score: 55
  • Cell Name: glandular epithelial cell (CL0000150)
    Fold Change: 0.18
    Marker Score: 439
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.18
    Marker Score: 85
  • Cell Name: intermediate monocyte (CL0002393)
    Fold Change: 0.18
    Marker Score: 61
  • Cell Name: melanocyte (CL0000148)
    Fold Change: 0.18
    Marker Score: 71
  • Cell Name: gut endothelial cell (CL0000131)
    Fold Change: 0.17
    Marker Score: 62
  • Cell Name: fast muscle cell (CL0000190)
    Fold Change: 0.17
    Marker Score: 52
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.17
    Marker Score: 5775
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.17
    Marker Score: 42
  • Cell Name: mast cell (CL0000097)
    Fold Change: 0.17
    Marker Score: 96
  • Cell Name: endothelial cell (CL0000115)
    Fold Change: 0.16
    Marker Score: 145
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.16
    Marker Score: 95
  • Cell Name: brainstem motor neuron (CL2000047)
    Fold Change: 0.15
    Marker Score: 90

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Other Information

## Summary ITGA2B is a cell surface protein that is expressed in a variety of cell types. It is a member of the integrin family of cell adhesion molecules, which are essential for cell-cell and cell-extracellular matrix interactions. ITGA2B is primarily expressed on epithelial cells, where it is involved in cell adhesion, migration, and signaling. ## Key characteristics * ITGA2B is a transmembrane protein with a molecular weight of approximately 120 kDa. * It is a glycoprotein that is expressed in a variety of cell types, including epithelial cells, endothelial cells, and immune cells. * ITGA2B is a key molecule in cell adhesion, as it is involved in the formation of cell contacts with other cells. * It also plays a role in cell signaling, as it is a receptor for various growth factors and cytokines. ## Pathways and functions ITGA2B is involved in a variety of cellular pathways, including: * **Axon guidance:** ITGA2B is expressed on the surface of epithelial cells, and it plays a role in guiding the migration of epithelial cells along the growth factor gradient. * **Developmental biology:** ITGA2B is expressed in the developing embryo, where it is involved in the formation of the epithelial layer of the body. * **Disease:** ITGA2B is expressed in a variety of cancer cells, where it is involved in cell migration, invasion, and metastasis. * **Signaling:** ITGA2B is a receptor for various growth factors and cytokines, and it plays a role in cell signaling in a variety of cell types. ## Clinical significance ITGA2B is a promising target for cancer therapy. Inhibition of ITGA2B has been shown to inhibit cancer cell growth and metastasis in preclinical models. Clinical trials of ITGA2B inhibitors are currently underway in humans, with the aim of developing new cancer treatments.

Genular Protein ID: 2399104390

Symbol: ITA2B_HUMAN

Name: Integrin alpha-IIb

UniProtKB Accession Codes:

P08514 B2RCY8 O95366 Q14443 Q17R67

Database IDs:

ABCD 1 AGR 1 AlphaFoldDB 1 Antibodypedia 1 BMRB 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CORUM 1 CTD 1 ChEBI 20 ChEMBL 1 ChiTaRS 1 ComplexPortal 1 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 DisProt 1 DrugBank 4 DrugCentral 1 EMBL 15 EMDB 5 Ensembl 1 EvolutionaryTrace 1 ExpressionAtlas 1 GO 20 Gene3D 5 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 GuidetoPHARMACOLOGY 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 9 KEGG 1 MANE-Select 1 MIM 5 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OGP 1 OMA 1 OpenTargets 1 Orphanet 3 OrthoDB 1 PANTHER 2 PDB 83 PDBsum 68 PIR 1 PRINTS 1 PRO 1 PROSITE 2 PROSITE-ProRule 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 5 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 3 RNAct 1 Reactome 15 RefSeq 2 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 TopDownProteomics 1 TreeFam 1 UCSC 1 UniProtKB 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 2439501

Title: Structure of the platelet membrane glycoprotein IIb. Homology to the alpha subunits of the vitronectin and fibronectin membrane receptors.

PubMed ID: 2439501

DOI: 10.1016/s0021-9258(18)47438-8

PubMed ID: 2345548

Title: GPIIb and GPIIIa amino acid sequences deduced from human megakaryocyte cDNAs.

PubMed ID: 2345548

DOI: 10.1007/bf00422712

PubMed ID: 2322558

Title: Organization of the gene for platelet glycoprotein IIb.

PubMed ID: 2322558

DOI: 10.1021/bi00457a020

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16625196

Title: DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage.

PubMed ID: 16625196

DOI: 10.1038/nature04689

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 2845986

Title: Isolation of the human platelet glycoprotein IIb gene and characterization of the 5' flanking region.

PubMed ID: 2845986

DOI: 10.1016/s0006-291x(88)80884-2

PubMed ID: 3534886

Title: Platelet glycoproteins IIb and IIIa: evidence for a family of immunologically and structurally related glycoproteins in mammalian cells.

PubMed ID: 3534886

DOI: 10.1073/pnas.83.21.8351

PubMed ID: 1953640

Title: Separation of important new platelet glycoproteins (GPIa, GPIc, GPIc*, GPIIa and GMP-140) by F.P.L.C. Characterization by monoclonal antibodies and gas-phase sequencing.

PubMed ID: 1953640

DOI: 10.1042/bj2790419

PubMed ID: 8620874

Title: Thermal stability of individual domains in platelet glycoprotein IIbIIIa.

PubMed ID: 8620874

DOI: 10.1111/j.1432-1033.1996.0205n.x

PubMed ID: 3422188

Title: cDNA clones for human platelet GPIIb corresponding to mRNA from megakaryocytes and HEL cells. Evidence for an extensive homology to other Arg-Gly-Asp adhesion receptors.

PubMed ID: 3422188

DOI: 10.1111/j.1432-1033.1988.tb13762.x

PubMed ID: 3801670

Title: Purification and partial amino acid sequence of human platelet membrane glycoproteins IIb and IIIa.

PubMed ID: 3801670

PubMed ID: 9809974

Title: Identification of a novel truncated alphaIIb integrin.

PubMed ID: 9809974

PubMed ID: 3479442

Title: Platelet glycoprotein IIb. Chromosomal localization and tissue expression.

PubMed ID: 3479442

DOI: 10.1172/jci113277

PubMed ID: 2476117

Title: Interchain and intrachain disulphide bonds in human platelet glycoprotein IIb. Localization of the epitopes for several monoclonal antibodies.

PubMed ID: 2476117

DOI: 10.1042/bj2610551

PubMed ID: 2351656

Title: Human platelets and megakaryocytes contain alternately spliced glycoprotein IIb mRNAs.

PubMed ID: 2351656

DOI: 10.1016/s0021-9258(19)38705-8

PubMed ID: 2775232

Title: Complete localization of the intrachain disulphide bonds and the N-glycosylation points in the alpha-subunit of human platelet glycoprotein IIb.

PubMed ID: 2775232

DOI: 10.1042/bj2610561

PubMed ID: 7688323

Title: Localization of an O-glycosylation site in the alpha-subunit of the human platelet integrin GPIIb/IIIa involved in Baka (HPA-3a) alloantigen expression.

PubMed ID: 7688323

DOI: 10.1016/0014-5793(93)80959-x

PubMed ID: 2226834

Title: Characterization of the beta-chain N-terminus heterogeneity and the alpha-chain C-terminus of human platelet GPIIb. Posttranslational cleavage sites.

PubMed ID: 2226834

DOI: 10.1016/0014-5793(90)80443-m

PubMed ID: 9030514

Title: Identification of a novel calcium-binding protein that interacts with the integrin alphaIIb cytoplasmic domain.

PubMed ID: 9030514

DOI: 10.1074/jbc.272.8.4651

PubMed ID: 10477286

Title: Calcium-dependent properties of CIB binding to the integrin alphaIIb cytoplasmic domain and translocation to the platelet cytoskeleton.

PubMed ID: 10477286

DOI: 10.1042/bj3420729

PubMed ID: 10212286

Title: Bidirectional transmembrane modulation of integrin alphaIIbbeta3 conformations.

PubMed ID: 10212286

DOI: 10.1074/jbc.274.18.12945

PubMed ID: 16335952

Title: Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry.

PubMed ID: 16335952

DOI: 10.1021/pr0502065

PubMed ID: 18331836

Title: RN181, a novel ubiquitin E3 ligase that interacts with the KVGFFKR motif of platelet integrin alpha(IIb)beta3.

PubMed ID: 18331836

DOI: 10.1016/j.bbrc.2008.02.142

PubMed ID: 21388953

Title: Solution structures of Ca2+-CIB1 and Mg2+-CIB1 and their interactions with the platelet integrin alphaIIb cytoplasmic domain.

PubMed ID: 21388953

DOI: 10.1074/jbc.m110.179028

PubMed ID: 22779914

Title: Biophysical and structural studies of the human calcium- and integrin-binding protein family: understanding their functional similarities and differences.

PubMed ID: 22779914

DOI: 10.1139/o2012-021

PubMed ID: 22283712

Title: Structural basis for the activation of platelet integrin alphaIIbbeta3 by calcium- and integrin-binding protein 1.

PubMed ID: 22283712

DOI: 10.1021/ja2111306

PubMed ID: 15378069

Title: Structural basis for allostery in integrins and binding to fibrinogen-mimetic therapeutics.

PubMed ID: 15378069

DOI: 10.1038/nature02976

PubMed ID: 19111664

Title: Structure of a complete integrin ectodomain in a physiologic resting state and activation and deactivation by applied forces.

PubMed ID: 19111664

DOI: 10.1016/j.molcel.2008.11.018

PubMed ID: 7878622

Title: Inherited diseases of platelet glycoproteins: considerations for rapid molecular characterization.

PubMed ID: 7878622

PubMed ID: 2350579

Title: Polymorphism of human platelet membrane glycoprotein IIb associated with the Baka/Bakb alloantigen system.

PubMed ID: 2350579

PubMed ID: 8282784

Title: Glanzmann thrombasthenia secondary to a Gly273-->Asp mutation adjacent to the first calcium-binding domain of platelet glycoprotein IIb.

PubMed ID: 8282784

DOI: 10.1172/jci116942

PubMed ID: 7508443

Title: A single amino acid substitution flanking the fourth calcium binding domain of alpha IIb prevents maturation of the alpha IIb beta 3 integrin complex.

PubMed ID: 7508443

DOI: 10.1016/s0021-9258(17)41800-x

PubMed ID: 7706461

Title: Glanzmann thrombasthenia resulting from a single amino acid substitution between the second and third calcium-binding domains of GPIIb. Role of the GPIIb amino terminus in integrin subunit association.

PubMed ID: 7706461

DOI: 10.1172/jci117828

PubMed ID: 8704171

Title: Glanzmann thrombasthenia due to a two amino acid deletion in the fourth calcium-binding domain of alpha IIb: demonstration of the importance of calcium-binding domains in the conformation of alpha IIb beta 3.

PubMed ID: 8704171

PubMed ID: 9215749

Title: Hematologically important mutations: Glanzmann thrombasthenia.

PubMed ID: 9215749

DOI: 10.1006/bcmd.1997.0117

PubMed ID: 9473221

Title: Glycoprotein IIb Leu214Pro mutation produces Glanzmann thrombasthenia with both quantitative and qualitative abnormalities in GPIIb/IIIa.

PubMed ID: 9473221

PubMed ID: 9763559

Title: A Gln747-->Pro substitution in the IIb subunit is responsible for a moderate IIbbeta3 deficiency in Glanzmann thrombasthenia.

PubMed ID: 9763559

PubMed ID: 9834222

Title: R to Q amino acid substitution in the GFFKR sequence of the cytoplasmic domain of the integrin IIb subunit in a patient with a Glanzmann's thrombasthenia-like syndrome.

PubMed ID: 9834222

PubMed ID: 9722314

Title: Novel point mutations in the alphaIIb subunit (Phe289-->Ser, Glu324-->Lys and Gln747-->Pro) causing thrombasthenic phenotypes in four Japanese patients.

PubMed ID: 9722314

DOI: 10.1046/j.1365-2141.1998.00824.x

PubMed ID: 9734640

Title: Double heterozygosity of the GPIIb gene in a Swiss patient with Glanzmann's thrombasthenia.

PubMed ID: 9734640

DOI: 10.1046/j.1365-2141.1998.00852.x

PubMed ID: 10391209

Title: Characterization of single-nucleotide polymorphisms in coding regions of human genes.

PubMed ID: 10391209

DOI: 10.1038/10290

PubMed ID: 9920835

Title: Molecular genetic analysis of a compound heterozygote for the glycoprotein (GP) IIb gene associated with Glanzmann's thrombasthenia: disruption of the 674-687 disulfide bridge in GPIIb prevents surface exposure of GPIIb-IIIa complexes.

PubMed ID: 9920835

PubMed ID: 10607701

Title: A naturally occurring mutation near the amino terminus of alphaIIb defines a new region involved in ligand binding to alphaIIbbeta3.

PubMed ID: 10607701

PubMed ID: 11798398

Title: Description of 10 new mutations in platelet glycoprotein IIb (alphaIIb) and glycoprotein IIIa (beta3) genes.

PubMed ID: 11798398

DOI: 10.1080/095371001317126383

PubMed ID: 12181054

Title: A Leu55 to Pro substitution in the integrin alphaIIb is responsible for a case of Glanzmann's thrombasthenia.

PubMed ID: 12181054

DOI: 10.1046/j.1365-2141.2002.03678.x

PubMed ID: 12083483

Title: Glanzmann's thrombasthenia: identification of 19 new mutations in 30 patients.

PubMed ID: 12083483

PubMed ID: 12424194

Title: Two novel mutations in the alpha IIb calcium-binding domains identify hydrophobic regions essential for alpha IIbbeta 3 biogenesis.

PubMed ID: 12424194

DOI: 10.1182/blood-2002-07-2266

PubMed ID: 12506038

Title: A naturally occurring Tyr143His alpha IIb mutation abolishes alpha IIb beta 3 function for soluble ligands but retains its ability for mediating cell adhesion and clot retraction: comparison with other mutations causing ligand-binding defects.

PubMed ID: 12506038

DOI: 10.1182/blood-2002-07-2144

PubMed ID: 15099289

Title: Triple heterozygosity in the integrin alphaIIb subunit in a patient with Glanzmann's thrombasthenia.

PubMed ID: 15099289

DOI: 10.1046/j.1538-7836.2004.00711.x

PubMed ID: 15219201

Title: A novel Phe171Cys mutation in integrin alpha causes Glanzmann thrombasthenia by abrogating alphaIIbbeta3 complex formation.

PubMed ID: 15219201

DOI: 10.1111/j.1538-7836.2004.00758.x

PubMed ID: 17018384

Title: Type II Glanzmann thrombasthenia in a compound heterozygote for the alpha IIb gene. A novel missense mutation in exon 27.

PubMed ID: 17018384

PubMed ID: 20020534

Title: AlphaIIbbeta3 integrin: new allelic variants in Glanzmann thrombasthenia, effects on ITGA2B and ITGB3 mRNA splicing, expression, and structure-function.

PubMed ID: 20020534

DOI: 10.1002/humu.21179

PubMed ID: 21454453

Title: Heterozygous ITGA2B R995W mutation inducing constitutive activation of the alphaIIbbeta3 receptor affects proplatelet formation and causes congenital macrothrombocytopenia.

PubMed ID: 21454453

DOI: 10.1182/blood-2010-12-323691

Sequence Information:

  • Length: 1039
  • Mass: 113377
  • Checksum: 063EE298E026F116
  • Sequence:
    • MARALCPLQA LWLLEWVLLL LGPCAAPPAW ALNLDPVQLT FYAGPNGSQF GFSLDFHKDS 
HGRVAIVVGA PRTLGPSQEE TGGVFLCPWR AEGGQCPSLL FDLRDETRNV GSQTLQTFKA 
RQGLGASVVS WSDVIVACAP WQHWNVLEKT EEAEKTPVGS CFLAQPESGR RAEYSPCRGN 
TLSRIYVEND FSWDKRYCEA GFSSVVTQAG ELVLGAPGGY YFLGLLAQAP VADIFSSYRP 
GILLWHVSSQ SLSFDSSNPE YFDGYWGYSV AVGEFDGDLN TTEYVVGAPT WSWTLGAVEI 
LDSYYQRLHR LRGEQMASYF GHSVAVTDVN GDGRHDLLVG APLYMESRAD RKLAEVGRVY 
LFLQPRGPHA LGAPSLLLTG TQLYGRFGSA IAPLGDLDRD GYNDIAVAAP YGGPSGRGQV 
LVFLGQSEGL RSRPSQVLDS PFPTGSAFGF SLRGAVDIDD NGYPDLIVGA YGANQVAVYR 
AQPVVKASVQ LLVQDSLNPA VKSCVLPQTK TPVSCFNIQM CVGATGHNIP QKLSLNAELQ 
LDRQKPRQGR RVLLLGSQQA GTTLNLDLGG KHSPICHTTM AFLRDEADFR DKLSPIVLSL 
NVSLPPTEAG MAPAVVLHGD THVQEQTRIV LDCGEDDVCV PQLQLTASVT GSPLLVGADN 
VLELQMDAAN EGEGAYEAEL AVHLPQGAHY MRALSNVEGF ERLICNQKKE NETRVVLCEL 
GNPMKKNAQI GIAMLVSVGN LEEAGESVSF QLQIRSKNSQ NPNSKIVLLD VPVRAEAQVE 
LRGNSFPASL VVAAEEGERE QNSLDSWGPK VEHTYELHNN GPGTVNGLHL SIHLPGQSQP 
SDLLYILDIQ PQGGLQCFPQ PPVNPLKVDW GLPIPSPSPI HPAHHKRDRR QIFLPEPEQP 
SRLQDPVLVS CDSAPCTVVQ CDLQEMARGQ RAMVTVLAFL WLPSLYQRPL DQFVLQSHAW 
FNVSSLPYAV PPLSLPRGEA QVWTQLLRAL EERAIPIWWV LVGVLGGLLL LTILVLAMWK 
VGFFKRNRPP LEEDDEEGE

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. For the full schema, download it here.