Details for: ITGA2B

Gene ID: 3674

Symbol: ITGA2B

Ensembl ID: ENSG00000005961

Description: integrin subunit alpha 2b

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 29.4448
    Cell Significance Index: -4.5800
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 18.1357
    Cell Significance Index: -4.6000
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 10.7896
    Cell Significance Index: -5.5500
  • Cell Name: megakaryocyte progenitor cell (CL0000553)
    Fold Change: 4.0746
    Cell Significance Index: 29.2900
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 3.9255
    Cell Significance Index: -4.8400
  • Cell Name: CD8-positive, alpha-beta cytokine secreting effector T cell (CL0000908)
    Fold Change: 0.5273
    Cell Significance Index: 5.6100
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.4704
    Cell Significance Index: 10.3000
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 0.4613
    Cell Significance Index: 28.2800
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.4078
    Cell Significance Index: 8.8400
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: 0.3245
    Cell Significance Index: 4.6500
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 0.2983
    Cell Significance Index: 3.7000
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.2757
    Cell Significance Index: 55.3000
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.1996
    Cell Significance Index: 3.4200
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.1701
    Cell Significance Index: 32.3800
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.1700
    Cell Significance Index: 5.4500
  • Cell Name: helper T cell (CL0000912)
    Fold Change: 0.1386
    Cell Significance Index: 1.9700
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: 0.1177
    Cell Significance Index: 1.0000
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.1051
    Cell Significance Index: 37.7200
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.0859
    Cell Significance Index: 4.8200
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.0751
    Cell Significance Index: 7.4300
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.0715
    Cell Significance Index: 64.5600
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.0567
    Cell Significance Index: 11.2500
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.0477
    Cell Significance Index: 0.9900
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 0.0425
    Cell Significance Index: 6.1800
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.0403
    Cell Significance Index: 2.4800
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.0374
    Cell Significance Index: 6.0800
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.0335
    Cell Significance Index: 3.6400
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.0335
    Cell Significance Index: 23.2000
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.0273
    Cell Significance Index: 1.6400
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0193
    Cell Significance Index: 36.3400
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.0140
    Cell Significance Index: 2.5200
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.0131
    Cell Significance Index: 7.1500
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.0107
    Cell Significance Index: 1.2500
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0080
    Cell Significance Index: 5.1100
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.0047
    Cell Significance Index: 0.1300
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0031
    Cell Significance Index: 0.1100
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0023
    Cell Significance Index: 3.5900
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0001
    Cell Significance Index: 0.2300
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: -0.0004
    Cell Significance Index: -0.0200
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0005
    Cell Significance Index: -0.6500
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.0013
    Cell Significance Index: -0.0600
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0057
    Cell Significance Index: -2.5800
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: -0.0062
    Cell Significance Index: -2.7300
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0066
    Cell Significance Index: -4.9100
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0072
    Cell Significance Index: -5.3000
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0074
    Cell Significance Index: -5.5700
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.0084
    Cell Significance Index: -1.0800
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.0090
    Cell Significance Index: -0.2600
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0092
    Cell Significance Index: -5.2200
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0095
    Cell Significance Index: -5.9400
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.0112
    Cell Significance Index: -0.2800
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.0113
    Cell Significance Index: -0.2400
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0133
    Cell Significance Index: -3.8400
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: -0.0139
    Cell Significance Index: -0.1200
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0148
    Cell Significance Index: -1.8200
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.0163
    Cell Significance Index: -0.7200
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0174
    Cell Significance Index: -2.3900
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: -0.0204
    Cell Significance Index: -0.2900
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0214
    Cell Significance Index: -1.4400
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0265
    Cell Significance Index: -5.5800
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.0274
    Cell Significance Index: -1.7300
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0276
    Cell Significance Index: -4.7100
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.0292
    Cell Significance Index: -0.7800
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.0314
    Cell Significance Index: -0.4500
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.0320
    Cell Significance Index: -1.6800
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.0329
    Cell Significance Index: -1.2500
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0396
    Cell Significance Index: -3.0400
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0408
    Cell Significance Index: -5.2700
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0417
    Cell Significance Index: -4.3400
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0419
    Cell Significance Index: -4.2800
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.0447
    Cell Significance Index: -5.2700
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0475
    Cell Significance Index: -5.4400
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -0.0487
    Cell Significance Index: -0.5800
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.0517
    Cell Significance Index: -1.0100
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.0646
    Cell Significance Index: -1.5500
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.0715
    Cell Significance Index: -5.3300
  • Cell Name: germ cell (CL0000586)
    Fold Change: -0.0755
    Cell Significance Index: -0.5700
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.0757
    Cell Significance Index: -2.1600
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0778
    Cell Significance Index: -3.6600
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.0789
    Cell Significance Index: -5.0900
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.0856
    Cell Significance Index: -4.4600
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.0878
    Cell Significance Index: -4.5600
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.0879
    Cell Significance Index: -2.8000
  • Cell Name: retinal bipolar neuron (CL0000748)
    Fold Change: -0.0883
    Cell Significance Index: -1.0700
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: -0.0886
    Cell Significance Index: -2.2100
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0903
    Cell Significance Index: -4.2100
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.0916
    Cell Significance Index: -3.2100
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.0941
    Cell Significance Index: -1.8600
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.0947
    Cell Significance Index: -3.1000
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.0994
    Cell Significance Index: -2.7100
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.1026
    Cell Significance Index: -2.5600
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.1046
    Cell Significance Index: -1.7500
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.1070
    Cell Significance Index: -2.2700
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.1071
    Cell Significance Index: -2.8600
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.1120
    Cell Significance Index: -2.4200
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.1165
    Cell Significance Index: -4.0500
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.1179
    Cell Significance Index: -3.0300
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.1200
    Cell Significance Index: -2.4100
  • Cell Name: OFF midget ganglion cell (CL4033047)
    Fold Change: -0.1211
    Cell Significance Index: -1.5100
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.1217
    Cell Significance Index: -5.2900

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** 1. **Structure:** The ITGA2B gene encodes a 58-kDa subunit of the integrin alpha 2b, which is a heterodimeric receptor composed of alpha 2 and beta 3 subunits. 2. **Expression:** ITGA2B is expressed in various cell types, including erythroid progenitor cells, goblet cells, enterocytes, and cerebral cortex GABAergic interneurons. 3. **Function:** Integrins, including ITGA2B, play a crucial role in cell-cell and cell-matrix adhesion, facilitating processes such as migration, proliferation, and differentiation. **Pathways and Functions:** 1. **Cell-Cell Adhesion:** ITGA2B facilitates cell-cell adhesion through interactions with the beta 3 subunit, enabling the formation of focal adhesions and adherens junctions. 2. **Cell-Matrix Adhesion:** ITGA2B interacts with the ECM, enabling cells to attach to and migrate through the matrix. 3. **Signaling:** Integrin-mediated signaling pathways, including the MAPK and PI3K/AKT pathways, regulate cellular processes such as proliferation, differentiation, and survival. 4. **Hemostasis:** ITGA2B plays a crucial role in platelet aggregation and hemostasis, facilitating the formation of platelet plugs and preventing excessive bleeding. **Clinical Significance:** 1. **Thrombocytopenia:** Mutations in the ITGA2B gene have been associated with thrombocytopenia, a condition characterized by low platelet counts and bleeding tendency. 2. **Platelet Function Disorders:** ITGA2B mutations can also lead to platelet function disorders, such as bleeding tendency and thrombosis. 3. **Cancer:** Integrins, including ITGA2B, are overexpressed in various cancers, including breast, lung, and colon cancers, and are associated with tumor progression and metastasis. 4. **Neurological Disorders:** ITGA2B mutations have been implicated in neurological disorders, such as cerebral cortex GABAergic interneuron dysfunction and autism spectrum disorder. In conclusion, the ITGA2B gene plays a critical role in cell-cell and cell-matrix adhesion, signaling, and regulation of hemostasis. Mutations in this gene can lead to various clinical disorders, including thrombocytopenia, platelet function disorders, and cancer. Further research is needed to fully understand the functions and clinical significance of the ITGA2B gene.

Genular Protein ID: 2399104390

Symbol: ITA2B_HUMAN

Name: Integrin alpha-IIb

UniProtKB Accession Codes:

Database IDs:

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: 37184585

Title: The C-type lectin domain of CD62P (P-selectin) functions as an integrin ligand.

PubMed ID: 37184585

DOI: 10.26508/lsa.202201747

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. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.