ITGA2B
entrez
3674
canonical
uniprot
P08514
canonical
ensembl
ENSG00000005961
resolver
ensp
ENSP00000262407
resolver
ensp
ENSP00000571366
resolver
ensp
ENSP00000619736
resolver
genesymbol
ITGA2B
resolver
genesymbol_syn
GP2B
resolver
genesymbol_syn
ITGAB
resolver
hgnc
HGNC:6138
resolver
uniprot
B2RCY8
resolver
uniprot
O95366
resolver
uniprot
Q14443
resolver
uniprot
Q17R67
resolver
uniprot_entry
ITA2B_HUMAN
resolver
uniprot_sec
B2RCY8
resolver
uniprot_sec
O95366
resolver
uniprot_sec
Q14443
resolver
uniprot_sec
Q17R67
resolver
amino_acid_sequence
MARALCPLQALWLLEWVLLLLGPCAAPPAWALNLDPVQLTFYAGPNGSQFGFSLDFHKDSHGRVAIVVGAPRTLGPSQEETGGVFLCPWRAEGGQCPSLLFDLRDETRNVGSQTLQTFKARQGLGASVVSWSDVIVACAPWQHWNVLEKTEEAEKTPVGSCFLAQPESGRRAEYSPCRGNTLSRIYVENDFSWDKRYCEAGFSSVVTQAGELVLGAPGGYYFLGLLAQAPVADIFSSYRPGILLWHVSSQSLSFDSSNPEYFDGYWGYSVAVGEFDGDLNTTEYVVGAPTWSWTLGAVEILDSYYQRLHRLRGEQMASYFGHSVAVTDVNGDGRHDLLVGAPLYMESRADRKLAEVGRVYLFLQPRGPHALGAPSLLLTGTQLYGRFGSAIAPLGDLDRDGYNDIAVAAPYGGPSGRGQVLVFLGQSEGLRSRPSQVLDSPFPTGSAFGFSLRGAVDIDDNGYPDLIVGAYGANQVAVYRAQPVVKASVQLLVQDSLNPAVKSCVLPQTKTPVSCFNIQMCVGATGHNIPQKLSLNAELQLDRQKPRQGRRVLLLGSQQAGTTLNLDLGGKHSPICHTTMAFLRDEADFRDKLSPIVLSLNVSLPPTEAGMAPAVVLHGDTHVQEQTRIVLDCGEDDVCVPQLQLTASVTGSPLLVGADNVLELQMDAANEGEGAYEAELAVHLPQGAHYMRALSNVEGFERLICNQKKENETRVVLCELGNPMKKNAQIGIAMLVSVGNLEEAGESVSFQLQIRSKNSQNPNSKIVLLDVPVRAEAQVELRGNSFPASLVVAAEEGEREQNSLDSWGPKVEHTYELHNNGPGTVNGLHLSIHLPGQSQPSDLLYILDIQPQGGLQCFPQPPVNPLKVDWGLPIPSPSPIHPAHHKRDRRQIFLPEPEQPSRLQDPVLVSCDSAPCTVVQCDLQEMARGQRAMVTVLAFLWLPSLYQRPLDQFVLQSHAWFNVSSLPYAVPPLSLPRGEAQVWTQLLRALEERAIPIWWVLVGVLGGLLLLTILVLAMWKVGFFKRNRPPLEEDDEEGE
uniprot
proteins
disease_involvement
DISEASE: Fetomaternal alloimmune thrombocytopenia 2 (FMAIT2) [MIM:621266]: A form of fetomaternal alloimmune thrombocytopenia, a bleeding disorder caused by maternal/fetal incompatibility for platelet alloantigens and arising when a fetus inherits a paternal platelet alloantigen that the mother does not possess. During pregnancy, as well as parturition, maternal alloantibodies against paternally-inherited platelet antigens cause destruction of fetal platelets and fetal/neonatal thrombocytopenia. Disease severity and clinical features in the fetus or neonate are heterogeneous. While most fetuses remain asymptomatic, others develop skin bleedings (petechiae) or internal organ bleedings. The most severe symptom is intracranial hemorrhage that is mostly discovered postnatally and can result in neurological complications or even death. Mothers with circulating platelet alloantibodies may experience miscarriage. FMAIT2 transmission pattern is consistent with autosomal dominant paternal inheritance. {ECO:0000269|PubMed:15569236, ECO:0000269|PubMed:19821948, ECO:0000269|PubMed:23305224, ECO:0000269|PubMed:7197082, ECO:0000269|PubMed:7620155}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.; DISEASE: Glanzmann thrombasthenia 1 (GT1) [MIM:273800]: A form of Glanzmann thrombasthenia, a disorder characterized by failure of platelet aggregation, absent or diminished clot retraction, and mucocutaneous bleeding of mild-to-moderate severity. Glanzmann thrombasthenia has been classified into clinical types I and II. In type I, platelets show absence of glycoprotein IIb-IIIa complexes at their surface and lack fibrinogen and clot retraction capability. In type II, the platelets express glycoprotein IIb-IIIa complexes at reduced levels, have detectable amounts of fibrinogen, and have low or moderate clot retraction capability. GT1 inheritance is autosomal recessive. {ECO:0000269|PubMed:10607701, ECO:0000269|PubMed:11798398, ECO:0000269|PubMed:12083483, ECO:0000269|PubMed:12181054, ECO:0000269|PubMed:12424194, ECO:0000269|PubMed:12506038, ECO:0000269|PubMed:15099289, ECO:0000269|PubMed:15219201, ECO:0000269|PubMed:17018384, ECO:0000269|PubMed:20020534, ECO:0000269|PubMed:7508443, ECO:0000269|PubMed:7706461, ECO:0000269|PubMed:8282784, ECO:0000269|PubMed:8704171, ECO:0000269|PubMed:9215749, ECO:0000269|PubMed:9473221, ECO:0000269|PubMed:9722314, ECO:0000269|PubMed:9734640, ECO:0000269|PubMed:9763559, ECO:0000269|PubMed:9920835}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Bleeding disorder, platelet-type, 16 (BDPLT16) [MIM:187800]: An autosomal dominant form of congenital macrothrombocytopenia associated with platelet anisocytosis. It is a disorder of platelet production. Affected individuals may have no or only mildly increased bleeding tendency. In vitro studies show mild platelet functional abnormalities. {ECO:0000269|PubMed:21454453, ECO:0000269|PubMed:9834222}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Integrin alpha-IIb/beta-3 (ITGA2B:ITGB3) is a receptor for fibronectin, fibrinogen, plasminogen, prothrombin, thrombospondin and vitronectin. It recognizes the sequence R-G-D in a wide array of ligands. It recognizes the sequence H-H-L-G-G-G-A-K-Q-A-G-D-V in fibrinogen gamma chain (By similarity). Following activation integrin alpha-IIb/beta-3 brings about platelet/platelet interaction through binding of soluble fibrinogen (PubMed:9111081). This step leads to rapid platelet aggregation which physically plugs ruptured endothelial cell surface (By similarity). Integrin ITGA2B:ITGB3 is also the receptor of erythrocyte-specific ICAM4 ligand involved in heterotypic cell-cell adhesion between erythrocytes and activated platelets (PubMed:12477717). {ECO:0000250|UniProtKB:O54890, ECO:0000269|PubMed:12477717, ECO:0000269|PubMed:9111081}.
uniprot
proteins
mass_dalton
113377
uniprot
proteins
mutagenesis
MUTAGEN 1029..1030; /note="PP->AA: Imparts constitutive activity (ligand-binding) to alpha-IIb/beta-3."; /evidence="ECO:0000269|PubMed:10212286
uniprot
proteins
post_translational_modification
PTM: [Integrin alpha-IIb heavy chain]: Cleaved by ELANE; the cleavage promotes activation of platelet fibrinogen receptor integrin alpha-IIb/beta-3. {ECO:0000269|PubMed:9111081}.
uniprot
proteins
protein_family
Integrin alpha chain family
uniprot
proteins
pubmed
10212286
uniprot
proteins
pubmed
10391209
uniprot
proteins
pubmed
10477286
uniprot
proteins
pubmed
10607701
uniprot
proteins
pubmed
11798398
uniprot
proteins
pubmed
12083483
uniprot
proteins
pubmed
12181054
uniprot
proteins
pubmed
12424194
uniprot
proteins
pubmed
12477717
uniprot
proteins
pubmed
12506038
uniprot
proteins
pubmed
14516468
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15099289
uniprot
proteins
pubmed
15219201
uniprot
proteins
pubmed
15378069
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15569236
uniprot
proteins
pubmed
16335952
uniprot
proteins
pubmed
16625196
uniprot
proteins
pubmed
17018384
uniprot
proteins
pubmed
18331836
uniprot
proteins
pubmed
19111664
uniprot
proteins
pubmed
1953640
uniprot
proteins
pubmed
19821948
uniprot
proteins
pubmed
20020534
uniprot
proteins
pubmed
21388953
uniprot
proteins
pubmed
21454453
uniprot
proteins
pubmed
2226834
uniprot
proteins
pubmed
22283712
uniprot
proteins
pubmed
22779914
uniprot
proteins
pubmed
2322558
uniprot
proteins
pubmed
23305224
uniprot
proteins
pubmed
2345548
uniprot
proteins
pubmed
2350579
uniprot
proteins
pubmed
2351656
uniprot
proteins
pubmed
2439501
uniprot
proteins
pubmed
2476117
uniprot
proteins
pubmed
2775232
uniprot
proteins
pubmed
2845986
uniprot
proteins
pubmed
3422188
uniprot
proteins
pubmed
3479442
uniprot
proteins
pubmed
3534886
uniprot
proteins
pubmed
37184585
uniprot
proteins
pubmed
3801670
uniprot
proteins
pubmed
7197082
uniprot
proteins
pubmed
7508443
uniprot
proteins
pubmed
7620155
uniprot
proteins
pubmed
7688323
uniprot
proteins
pubmed
7706461
uniprot
proteins
pubmed
7878622
uniprot
proteins
pubmed
8282784
uniprot
proteins
pubmed
8620874
uniprot
proteins
pubmed
8704171
uniprot
proteins
pubmed
9030514
uniprot
proteins
pubmed
9111081
uniprot
proteins
pubmed
9215749
uniprot
proteins
pubmed
9473221
uniprot
proteins
pubmed
9722314
uniprot
proteins
pubmed
9734640
uniprot
proteins
pubmed
9763559
uniprot
proteins
pubmed
9809974
uniprot
proteins
pubmed
9834222
uniprot
proteins
pubmed
9920835
uniprot
proteins
sequence_length
1039
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:20020534}; Single-pass type I membrane protein {ECO:0000305}.
uniprot
proteins
transmembrane_region
TRANSMEM 994..1019; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins