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Protein

Integrin alpha-IIb

Gene

ITGA2B

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Integrin alpha-IIb/beta-3 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. Following activation integrin alpha-IIb/beta-3 brings about platelet/platelet interaction through binding of soluble fibrinogen. This step leads to rapid platelet aggregation which physically plugs ruptured endothelial cell surface.

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Calcium bindingi274 – 282Sequence analysis9
Calcium bindingi328 – 336Sequence analysis9
Calcium bindingi396 – 404Sequence analysis9
Calcium bindingi457 – 465Sequence analysis9

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionIntegrin, Receptor
Biological processCell adhesion
LigandCalcium, Metal-binding

Enzyme and pathway databases

ReactomeiR-HSA-114608 Platelet degranulation
R-HSA-216083 Integrin cell surface interactions
R-HSA-3000178 ECM proteoglycans
R-HSA-354192 Integrin alphaIIb beta3 signaling
R-HSA-354194 GRB2:SOS provides linkage to MAPK signaling for Integrins
R-HSA-372708 p130Cas linkage to MAPK signaling for integrins
R-HSA-445144 Signal transduction by L1
R-HSA-5674135 MAP2K and MAPK activation
R-HSA-6802946 Signaling by moderate kinase activity BRAF mutants
R-HSA-6802948 Signaling by high-kinase activity BRAF mutants
R-HSA-6802949 Signaling by RAS mutants
R-HSA-6802952 Signaling by BRAF and RAF fusions
R-HSA-6802955 Paradoxical activation of RAF signaling by kinase inactive BRAF
R-HSA-8936459 RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function
SignaLinkiP08514
SIGNORiP08514

Names & Taxonomyi

Protein namesi
Recommended name:
Integrin alpha-IIb
Alternative name(s):
GPalpha IIb
Short name:
GPIIb
Platelet membrane glycoprotein IIb
CD_antigen: CD41
Cleaved into the following 3 chains:
Gene namesi
Name:ITGA2B
Synonyms:GP2B, ITGAB
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

EuPathDBiHostDB:ENSG00000005961.17
HGNCiHGNC:6138 ITGA2B
MIMi607759 gene
neXtProtiNX_P08514

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini32 – 993ExtracellularSequence analysisAdd BLAST962
Transmembranei994 – 1019HelicalSequence analysisAdd BLAST26
Topological domaini1020 – 1039CytoplasmicSequence analysisAdd BLAST20

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Glanzmann thrombasthenia (GT)20 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA common inherited disease of platelet aggregation. It is characterized by mucocutaneous bleeding of mild-to-moderate severity. GT has been classified clinically into types I and II. In type I, platelets show absence of the glycoprotein IIb-IIIa complexes at their surface and lack fibrinogen and clot retraction capability. In type II, the platelets express the GPIIb-IIIa complex at reduced levels, have detectable amounts of fibrinogen, and have low or moderate clot retraction capability.
See also OMIM:273800
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03044586L → P in GT; cells co-transfected with mutated alpha-IIb and wild-type beta-3 scarcely expressed the alpha-IIb/beta-3 complex. 1 PublicationCorresponds to variant dbSNP:rs1052533574Ensembl.1
Natural variantiVAR_030446139A → V in GT. 1 Publication1
Natural variantiVAR_030447161C → W in GT. 1 Publication1
Natural variantiVAR_030448174Y → H in GT; abolishes the binding function of alpha-IIb/beta-3 for soluble ligands without disturbing alpha-IIb/beta-3 expression; functional defect is likely caused by its allosteric effect rather than by a defect in the ligand-binding site itself. 1 Publication1
Natural variantiVAR_009885176P → A in GT; impairs surface expression of alpha-IIb/beta-3 and abrogates ligand binding to the activated integrin. 2 Publications1
Natural variantiVAR_009886176P → L in GT; impairs surface expression of alpha-IIb/beta-3. 1 Publication1
Natural variantiVAR_030449202F → C in GT; associated with abrogation of alpha-IIb/beta-3 complex formation. 1 Publication1
Natural variantiVAR_030450207T → I in GT. 1 Publication1
Natural variantiVAR_030451214L → P in GT; disrupts the structural conformation and the ligand binding properties of the heterodimeric complex; in addition the mutation appears to confer susceptibility to proteolysis. 1 PublicationCorresponds to variant dbSNP:rs137852911EnsemblClinVar.1
Natural variantiVAR_030452222F → L in GT. 1 Publication1
Natural variantiVAR_030453267G → E in GT. 1 Publication1
Natural variantiVAR_003979273G → D in GT; alters the heterodimer conformation thus impairing their intracellular transport. 1 PublicationCorresponds to variant dbSNP:rs137852907EnsemblClinVar.1
Natural variantiVAR_009887320F → S in GT; type I; impairs surface expression of alpha-IIb/beta-3. 1 Publication1
Natural variantiVAR_030454329V → F in GT; expression of mutant subunit alpha-IIb/bet-3 is 28% of control; mutant pro-alpha-IIb subunit is retained in the endoplasmic reticulum. 1 Publication1
Natural variantiVAR_009888355E → K in GT; type I; impairs surface expression of alpha-IIb/beta-3. 2 PublicationsCorresponds to variant dbSNP:rs137852910EnsemblClinVar.1
Natural variantiVAR_003980358R → H in GT; type II. 1 PublicationCorresponds to variant dbSNP:rs137852908EnsemblClinVar.1
Natural variantiVAR_030455380G → D in GT. 1 PublicationCorresponds to variant dbSNP:rs766006685Ensembl.1
Natural variantiVAR_030456405I → T in GT; expression of mutant subunit alpha-IIb/bet-3 is 11% of control; mutant pro-alpha-IIb subunit is retained in the endoplasmic reticulum. 3 PublicationsCorresponds to variant dbSNP:rs75622274Ensembl.1
Natural variantiVAR_030457412G → R in GT. 1 PublicationCorresponds to variant dbSNP:rs780786843EnsemblClinVar.1
Natural variantiVAR_003981449G → D in GT; type I. 1 Publication1
Natural variantiVAR_030458456 – 457Missing in GT; alteres the conformation of heterodimers such that they were neither recognized by the heterodimer-specific antibody A2A9 nor able to undergo further intracellular processing or transport to the cell surface. 2
Natural variantiVAR_030459581A → D in GT. 1 Publication1
Natural variantiVAR_030460596I → T in GT; type I. 3 PublicationsCorresponds to variant dbSNP:rs76811038EnsemblClinVar.1
Natural variantiVAR_030461705C → R in GT; type II; the rate of subunit maturation and the surface exposure of ghlycoprotein IIb/beta-3 are strongly reduced. 3 PublicationsCorresponds to variant dbSNP:rs77961246Ensembl.1
Natural variantiVAR_030462752L → V in GT. 1 PublicationCorresponds to variant dbSNP:rs761174160Ensembl.1
Natural variantiVAR_030463755R → P in GT. 1 PublicationCorresponds to variant dbSNP:rs763762304Ensembl.1
Natural variantiVAR_003982778Q → P in GT; type II. 3 PublicationsCorresponds to variant dbSNP:rs74475415EnsemblClinVar.1
Natural variantiVAR_030464847L → P in GT. 1 Publication1
Natural variantiVAR_069917934V → F in GT; severe type 1 phenotype; the mutation prevented normal ITGA2B/ITGB3 complex expression on the cell surface. 1 PublicationCorresponds to variant dbSNP:rs77458039Ensembl.1
Natural variantiVAR_030465943P → L in GT; marked reduction in the rate of surface expression. 1 Publication1
Natural variantiVAR_069918957S → L in GT; severe type 1 phenotype; the mutation prevented normal ITGA2B/ITGB3 complex expression on the cell surface; the mutation may interfere with correct folding of the protein. 1 PublicationCorresponds to variant dbSNP:rs80002943EnsemblClinVar.1
Natural variantiVAR_030466982V → M in GT; much reduced surface expression of alpha-IIb/beta-3 and a block in the maturation of pro-alpha-IIb. 2 PublicationsCorresponds to variant dbSNP:rs78657866EnsemblClinVar.1
Bleeding disorder, platelet-type 16 (BDPLT16)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn 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.
See also OMIM:187800
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0699191026R → W in BDPLT16; results in abnormal membrane ruffling and cytoplasmic protrusions as well as defective proplatelet formation. 1 PublicationCorresponds to variant dbSNP:rs766503255EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi1029 – 1030PP → AA: Imparts constitutive activity (ligand-binding) to alpha-IIb/beta-3. 1 Publication2

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi3674
MalaCardsiITGA2B
MIMi187800 phenotype
273800 phenotype
OpenTargetsiENSG00000005961
Orphaneti140957 Autosomal dominant macrothrombocytopenia
853 Fetal and neonatal alloimmune thrombocytopenia
849 Glanzmann thrombasthenia
PharmGKBiPA29938

Chemistry databases

ChEMBLiCHEMBL212
DrugBankiDB00054 Abciximab
DB04863 Lefradafiban
DB00775 Tirofiban
GuidetoPHARMACOLOGYi2440

Polymorphism and mutation databases

BioMutaiITGA2B
DMDMi226694183

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 313 PublicationsAdd BLAST31
ChainiPRO_000001627532 – 1039Integrin alpha-IIbAdd BLAST1008
ChainiPRO_000001627632 – 887Integrin alpha-IIb heavy chainAdd BLAST856
ChainiPRO_0000292348891 – 1039Integrin alpha-IIb light chain, form 1Add BLAST149
ChainiPRO_0000016277903 – 1039Integrin alpha-IIb light chain, form 2Add BLAST137

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi46N-linked (GlcNAc...) asparagine1 Publication1
Disulfide bondi87 ↔ 961 Publication
Disulfide bondi138 ↔ 1611 Publication
Disulfide bondi177 ↔ 1981 Publication
Glycosylationi280N-linked (GlcNAc...) asparagine1 Publication1
Disulfide bondi504 ↔ 5151 Publication
Disulfide bondi521 ↔ 5761 Publication
Glycosylationi601N-linked (GlcNAc...) asparagine2 Publications1
Disulfide bondi633 ↔ 6391 Publication
Disulfide bondi705 ↔ 7181 Publication
Glycosylationi711N-linked (GlcNAc...) asparagine1 Publication1
Disulfide bondi857 ↔ 911Interchain (between heavy and light chains)1 Publication
Glycosylationi874O-linked (GalNAc...) serine; in variant S-8741
Glycosylationi878O-linked (GalNAc...) serine1 Publication1
Modified residuei891Pyrrolidone carboxylic acid; in light chain form 11 Publication1
Disulfide bondi916 ↔ 9211 Publication
Glycosylationi962N-linked (GlcNAc...) asparagine1

Keywords - PTMi

Cleavage on pair of basic residues, Disulfide bond, Glycoprotein, Pyrrolidone carboxylic acid

Proteomic databases

PaxDbiP08514
PeptideAtlasiP08514
PRIDEiP08514
ProteomicsDBi52113
52114 [P08514-2]
52115 [P08514-3]
TopDownProteomicsiP08514-1 [P08514-1]

2D gel databases

OGPiP08514

PTM databases

iPTMnetiP08514
PhosphoSitePlusiP08514

Expressioni

Tissue specificityi

Isoform 1 and isoform 2 are expressed in platelets and megakaryocytes, but not in reticulocytes. Not detected in Jurkat, nor in U937 cell lines (PubMed:2351656). Isoform 3 is expressed in prostate adenocarcinoma, as well as in several erythroleukemia, prostate adenocarcinoma and melanoma cell lines, including PC-3, DU-145, HEL, WM983A, WM983B and WM35. Not detected in platelets, nor in normal prostate (at protein level) (PubMed:9809974).2 Publications

Gene expression databases

BgeeiENSG00000005961 Expressed in 154 organ(s), highest expression level in leukocyte
CleanExiHS_ITGA2B
ExpressionAtlasiP08514 baseline and differential
GenevisibleiP08514 HS

Organism-specific databases

HPAiCAB018611
HPA031168
HPA031169
HPA031170
HPA031171

Interactioni

Subunit structurei

Heterodimer of an alpha and a beta subunit. The alpha subunit is composed of a heavy and a light chain linked by a disulfide bond. Alpha-IIb associates with beta-3. Directly interacts with RNF181. Interacts (via C-terminus cytoplasmic tail region) with CIB1; the interaction is direct and calcium-dependent. Interacts (via C-terminus cytoplasmic tail region) with CIB2, CIB3 and CIB4; the interactions are stabilized/increased in a calcium and magnesium-dependent manner.6 Publications

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

BioGridi109881, 17 interactors
ComplexPortaliCPX-1799 Integrin alphaIIb-beta3 complex
CORUMiP08514
DIPiDIP-68N
IntActiP08514, 3 interactors
MINTiP08514
STRINGi9606.ENSP00000262407

Chemistry databases

BindingDBiP08514

Structurei

Secondary structure

11039
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliP08514
SMRiP08514
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP08514

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati35 – 96FG-GAP 1PROSITE-ProRule annotationAdd BLAST62
Repeati110 – 173FG-GAP 2PROSITE-ProRule annotationAdd BLAST64
Repeati187 – 238FG-GAP 3PROSITE-ProRule annotationAdd BLAST52
Repeati251 – 305FG-GAP 4PROSITE-ProRule annotationAdd BLAST55
Repeati306 – 371FG-GAP 5PROSITE-ProRule annotationAdd BLAST66
Repeati373 – 432FG-GAP 6PROSITE-ProRule annotationAdd BLAST60
Repeati435 – 496FG-GAP 7PROSITE-ProRule annotationAdd BLAST62

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi1022 – 1026GFFKR motif5

Sequence similaritiesi

Belongs to the integrin alpha chain family.Curated

Keywords - Domaini

Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3637 Eukaryota
ENOG410XPVZ LUCA
GeneTreeiENSGT00760000118782
HOGENOMiHOG000231603
HOVERGENiHBG006186
InParanoidiP08514
KOiK06476
OMAiLWLLEWV
OrthoDBiEOG091G05Z4
PhylomeDBiP08514
TreeFamiTF105391

Family and domain databases

Gene3Di2.130.10.130, 1 hit
InterProiView protein in InterPro
IPR013517 FG-GAP
IPR013519 Int_alpha_beta-p
IPR000413 Integrin_alpha
IPR013649 Integrin_alpha-2
IPR018184 Integrin_alpha_C_CS
IPR028994 Integrin_alpha_N
IPR032695 Integrin_dom_sf
PfamiView protein in Pfam
PF01839 FG-GAP, 2 hits
PF00357 Integrin_alpha, 1 hit
PF08441 Integrin_alpha2, 1 hit
PRINTSiPR01185 INTEGRINA
SMARTiView protein in SMART
SM00191 Int_alpha, 5 hits
SUPFAMiSSF69179 SSF69179, 3 hits
PROSITEiView protein in PROSITE
PS51470 FG_GAP, 7 hits
PS00242 INTEGRIN_ALPHA, 1 hit

Sequences (3+)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P08514-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MARALCPLQA LWLLEWVLLL LGPCAAPPAW ALNLDPVQLT FYAGPNGSQF
60 70 80 90 100
GFSLDFHKDS HGRVAIVVGA PRTLGPSQEE TGGVFLCPWR AEGGQCPSLL
110 120 130 140 150
FDLRDETRNV GSQTLQTFKA RQGLGASVVS WSDVIVACAP WQHWNVLEKT
160 170 180 190 200
EEAEKTPVGS CFLAQPESGR RAEYSPCRGN TLSRIYVEND FSWDKRYCEA
210 220 230 240 250
GFSSVVTQAG ELVLGAPGGY YFLGLLAQAP VADIFSSYRP GILLWHVSSQ
260 270 280 290 300
SLSFDSSNPE YFDGYWGYSV AVGEFDGDLN TTEYVVGAPT WSWTLGAVEI
310 320 330 340 350
LDSYYQRLHR LRGEQMASYF GHSVAVTDVN GDGRHDLLVG APLYMESRAD
360 370 380 390 400
RKLAEVGRVY LFLQPRGPHA LGAPSLLLTG TQLYGRFGSA IAPLGDLDRD
410 420 430 440 450
GYNDIAVAAP YGGPSGRGQV LVFLGQSEGL RSRPSQVLDS PFPTGSAFGF
460 470 480 490 500
SLRGAVDIDD NGYPDLIVGA YGANQVAVYR AQPVVKASVQ LLVQDSLNPA
510 520 530 540 550
VKSCVLPQTK TPVSCFNIQM CVGATGHNIP QKLSLNAELQ LDRQKPRQGR
560 570 580 590 600
RVLLLGSQQA GTTLNLDLGG KHSPICHTTM AFLRDEADFR DKLSPIVLSL
610 620 630 640 650
NVSLPPTEAG MAPAVVLHGD THVQEQTRIV LDCGEDDVCV PQLQLTASVT
660 670 680 690 700
GSPLLVGADN VLELQMDAAN EGEGAYEAEL AVHLPQGAHY MRALSNVEGF
710 720 730 740 750
ERLICNQKKE NETRVVLCEL GNPMKKNAQI GIAMLVSVGN LEEAGESVSF
760 770 780 790 800
QLQIRSKNSQ NPNSKIVLLD VPVRAEAQVE LRGNSFPASL VVAAEEGERE
810 820 830 840 850
QNSLDSWGPK VEHTYELHNN GPGTVNGLHL SIHLPGQSQP SDLLYILDIQ
860 870 880 890 900
PQGGLQCFPQ PPVNPLKVDW GLPIPSPSPI HPAHHKRDRR QIFLPEPEQP
910 920 930 940 950
SRLQDPVLVS CDSAPCTVVQ CDLQEMARGQ RAMVTVLAFL WLPSLYQRPL
960 970 980 990 1000
DQFVLQSHAW FNVSSLPYAV PPLSLPRGEA QVWTQLLRAL EERAIPIWWV
1010 1020 1030
LVGVLGGLLL LTILVLAMWK VGFFKRNRPP LEEDDEEGE
Length:1,039
Mass (Da):113,377
Last modified:April 14, 2009 - v3
Checksum:i063EE298E026F116
GO
Isoform 2 (identifier: P08514-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     948-981: Missing.

Show »
Length:1,005
Mass (Da):109,574
Checksum:i81C09F0D904CB534
GO
Isoform 3 (identifier: P08514-3) [UniParc]FASTAAdd to basket
Also known as: tr-alpha-IIb1 Publication

The sequence of this isoform differs from the canonical sequence as follows:
     910-1039: SCDSAPCTVV...PLEEDDEEGE → VSRLSGLWPG...ATLGPWEHFK

Show »
Length:953
Mass (Da):103,218
Checksum:i0100D4C5919320BE
GO

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
K7EP83K7EP83_HUMAN
Integrin alpha-IIb
ITGA2B
104Annotation score:
K7EKA6K7EKA6_HUMAN
Integrin alpha-IIb
ITGA2B
32Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti23P → A in AAA35926 (PubMed:2345548).Curated1
Sequence conflicti120A → S in BAG37735 (PubMed:14702039).Curated1
Sequence conflicti287 – 288GA → VP in AAA53150 (PubMed:2322558).Curated2
Sequence conflicti346E → D in AAA35926 (PubMed:2345548).Curated1
Sequence conflicti565N → D in AAA35926 (PubMed:2345548).Curated1
Sequence conflicti566L → V in CAA29987 (PubMed:3422188).Curated1
Sequence conflicti633C → S in AAA60114 (PubMed:2439501).Curated1
Sequence conflicti729Q → E in CAA29987 (PubMed:3422188).Curated1
Sequence conflicti971P → A in AAA53150 (PubMed:2322558).Curated1
Sequence conflicti1029P → H in AAA35926 (PubMed:2345548).Curated1
Sequence conflicti1029P → H in AAA52588 (PubMed:2845986).Curated1
Sequence conflicti1030P → T in AAA52588 (PubMed:2845986).Curated1

Polymorphismi

Position 874 is associated with platelet-specific alloantigen HPA-3/BAK/LEK. HPA-3A/BAK(A)/LEK(A) has Ile-874 and HPA-3B/BAK(B)/LEK(B) has Ser-874. HPA-3B is involved in neonatal alloimmune thrombocytopenia (NAIT or NATP).1 Publication

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01417640T → I1 PublicationCorresponds to variant dbSNP:rs5915Ensembl.1
Natural variantiVAR_03044586L → P in GT; cells co-transfected with mutated alpha-IIb and wild-type beta-3 scarcely expressed the alpha-IIb/beta-3 complex. 1 PublicationCorresponds to variant dbSNP:rs1052533574Ensembl.1
Natural variantiVAR_030446139A → V in GT. 1 Publication1
Natural variantiVAR_030447161C → W in GT. 1 Publication1
Natural variantiVAR_030448174Y → H in GT; abolishes the binding function of alpha-IIb/beta-3 for soluble ligands without disturbing alpha-IIb/beta-3 expression; functional defect is likely caused by its allosteric effect rather than by a defect in the ligand-binding site itself. 1 Publication1
Natural variantiVAR_009885176P → A in GT; impairs surface expression of alpha-IIb/beta-3 and abrogates ligand binding to the activated integrin. 2 Publications1
Natural variantiVAR_009886176P → L in GT; impairs surface expression of alpha-IIb/beta-3. 1 Publication1
Natural variantiVAR_030449202F → C in GT; associated with abrogation of alpha-IIb/beta-3 complex formation. 1 Publication1
Natural variantiVAR_030450207T → I in GT. 1 Publication1
Natural variantiVAR_030451214L → P in GT; disrupts the structural conformation and the ligand binding properties of the heterodimeric complex; in addition the mutation appears to confer susceptibility to proteolysis. 1 PublicationCorresponds to variant dbSNP:rs137852911EnsemblClinVar.1
Natural variantiVAR_030452222F → L in GT. 1 Publication1
Natural variantiVAR_030453267G → E in GT. 1 Publication1
Natural variantiVAR_003979273G → D in GT; alters the heterodimer conformation thus impairing their intracellular transport. 1 PublicationCorresponds to variant dbSNP:rs137852907EnsemblClinVar.1
Natural variantiVAR_054820313G → A2 PublicationsCorresponds to variant dbSNP:rs1126554Ensembl.1
Natural variantiVAR_009887320F → S in GT; type I; impairs surface expression of alpha-IIb/beta-3. 1 Publication1
Natural variantiVAR_030454329V → F in GT; expression of mutant subunit alpha-IIb/bet-3 is 28% of control; mutant pro-alpha-IIb subunit is retained in the endoplasmic reticulum. 1 Publication1
Natural variantiVAR_009888355E → K in GT; type I; impairs surface expression of alpha-IIb/beta-3. 2 PublicationsCorresponds to variant dbSNP:rs137852910EnsemblClinVar.1
Natural variantiVAR_003980358R → H in GT; type II. 1 PublicationCorresponds to variant dbSNP:rs137852908EnsemblClinVar.1
Natural variantiVAR_030455380G → D in GT. 1 PublicationCorresponds to variant dbSNP:rs766006685Ensembl.1
Natural variantiVAR_030456405I → T in GT; expression of mutant subunit alpha-IIb/bet-3 is 11% of control; mutant pro-alpha-IIb subunit is retained in the endoplasmic reticulum. 3 PublicationsCorresponds to variant dbSNP:rs75622274Ensembl.1
Natural variantiVAR_030457412G → R in GT. 1 PublicationCorresponds to variant dbSNP:rs780786843EnsemblClinVar.1
Natural variantiVAR_003981449G → D in GT; type I. 1 Publication1
Natural variantiVAR_030458456 – 457Missing in GT; alteres the conformation of heterodimers such that they were neither recognized by the heterodimer-specific antibody A2A9 nor able to undergo further intracellular processing or transport to the cell surface. 2
Natural variantiVAR_030459581A → D in GT. 1 Publication1
Natural variantiVAR_030460596I → T in GT; type I. 3 PublicationsCorresponds to variant dbSNP:rs76811038EnsemblClinVar.1
Natural variantiVAR_054821649V → L. Corresponds to variant dbSNP:rs7207402EnsemblClinVar.1
Natural variantiVAR_030461705C → R in GT; type II; the rate of subunit maturation and the surface exposure of ghlycoprotein IIb/beta-3 are strongly reduced. 3 PublicationsCorresponds to variant dbSNP:rs77961246Ensembl.1
Natural variantiVAR_030462752L → V in GT. 1 PublicationCorresponds to variant dbSNP:rs761174160Ensembl.1
Natural variantiVAR_030463755R → P in GT. 1 PublicationCorresponds to variant dbSNP:rs763762304Ensembl.1
Natural variantiVAR_003982778Q → P in GT; type II. 3 PublicationsCorresponds to variant dbSNP:rs74475415EnsemblClinVar.1
Natural variantiVAR_030464847L → P in GT. 1 Publication1
Natural variantiVAR_003983874I → S Alloantigen HPA-3B. 1 PublicationCorresponds to variant dbSNP:rs5911EnsemblClinVar.1
Natural variantiVAR_069917934V → F in GT; severe type 1 phenotype; the mutation prevented normal ITGA2B/ITGB3 complex expression on the cell surface. 1 PublicationCorresponds to variant dbSNP:rs77458039Ensembl.1
Natural variantiVAR_030465943P → L in GT; marked reduction in the rate of surface expression. 1 Publication1
Natural variantiVAR_069918957S → L in GT; severe type 1 phenotype; the mutation prevented normal ITGA2B/ITGB3 complex expression on the cell surface; the mutation may interfere with correct folding of the protein. 1 PublicationCorresponds to variant dbSNP:rs80002943EnsemblClinVar.1
Natural variantiVAR_014177968Y → N1 PublicationCorresponds to variant dbSNP:rs5914Ensembl.1
Natural variantiVAR_030466982V → M in GT; much reduced surface expression of alpha-IIb/beta-3 and a block in the maturation of pro-alpha-IIb. 2 PublicationsCorresponds to variant dbSNP:rs78657866EnsemblClinVar.1
Natural variantiVAR_030467989A → T2 PublicationsCorresponds to variant dbSNP:rs78165611EnsemblClinVar.1
Natural variantiVAR_0304681026R → Q in GT and BDPLT16; results in low surface expression of the mutant protein. 2 PublicationsCorresponds to variant dbSNP:rs879255514EnsemblClinVar.1
Natural variantiVAR_0699191026R → W in BDPLT16; results in abnormal membrane ruffling and cytoplasmic protrusions as well as defective proplatelet formation. 1 PublicationCorresponds to variant dbSNP:rs766503255EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_002736910 – 1039SCDSA…DEEGE → VSRLSGLWPGLPGTHGAEGM GGGRGVRVCCGPLWATLGPW EHFK in isoform 3. CuratedAdd BLAST130
Alternative sequenceiVSP_002737948 – 981Missing in isoform 2. CuratedAdd BLAST34

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
J02764 mRNA Translation: AAA60114.1
M34480 mRNA Translation: AAA35926.1
M34344, M33319, M33320 Genomic DNA Translation: AAA53150.1
AK315335 mRNA Translation: BAG37735.1
AC003043 Genomic DNA No translation available.
BC117443 mRNA Translation: AAI17444.1
BC126442 mRNA Translation: AAI26443.1
M22568 Genomic DNA Translation: AAA52587.1
M22569 Genomic DNA Translation: AAA52588.1
X06831 mRNA Translation: CAA29987.1
AF098114 mRNA Translation: AAC98507.1
M18085 mRNA Translation: AAA52597.1
M54799 Genomic DNA Translation: AAA52599.1
CCDSiCCDS32665.1 [P08514-1]
PIRiA34269
RefSeqiNP_000410.2, NM_000419.4 [P08514-1]
XP_011523051.1, XM_011524749.1 [P08514-2]
UniGeneiHs.411312

Genome annotation databases

EnsembliENST00000262407; ENSP00000262407; ENSG00000005961 [P08514-1]
GeneIDi3674
KEGGihsa:3674
UCSCiuc002igt.2 human [P08514-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
J02764 mRNA Translation: AAA60114.1
M34480 mRNA Translation: AAA35926.1
M34344, M33319, M33320 Genomic DNA Translation: AAA53150.1
AK315335 mRNA Translation: BAG37735.1
AC003043 Genomic DNA No translation available.
BC117443 mRNA Translation: AAI17444.1
BC126442 mRNA Translation: AAI26443.1
M22568 Genomic DNA Translation: AAA52587.1
M22569 Genomic DNA Translation: AAA52588.1
X06831 mRNA Translation: CAA29987.1
AF098114 mRNA Translation: AAC98507.1
M18085 mRNA Translation: AAA52597.1
M54799 Genomic DNA Translation: AAA52599.1
CCDSiCCDS32665.1 [P08514-1]
PIRiA34269
RefSeqiNP_000410.2, NM_000419.4 [P08514-1]
XP_011523051.1, XM_011524749.1 [P08514-2]
UniGeneiHs.411312

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1DPKNMR-A1020-1039[»]
1DPQNMR-A1020-1039[»]
1JX5model-A32-483[»]
1KUPNMR-A1018-1028[»]
1KUZNMR-A1018-1028[»]
1M8ONMR-A1020-1039[»]
1RN0model-A32-482[»]
1S4WNMR-A1020-1039[»]
1TYEX-ray2.90A/C/E32-483[»]
1UV9model-A32-973[»]
2K1ANMR-A989-1029[»]
2K9JNMR-A989-1029[»]
2KNCNMR-A991-1039[»]
2MTPNMR-B1019-1039[»]
2N9YNMR-A989-1029[»]
2VC2X-ray3.10A32-483[»]
2VDKX-ray2.80A32-483[»]
2VDLX-ray2.75A32-483[»]
2VDMX-ray2.90A32-483[»]
2VDNX-ray2.90A32-483[»]
2VDOX-ray2.51A32-483[»]
2VDPX-ray2.80A32-483[»]
2VDQX-ray2.59A32-483[»]
2VDRX-ray2.40A32-483[»]
3FCSX-ray2.55A/C32-989[»]
3FCUX-ray2.90A/C/E32-488[»]
3NIDX-ray2.30A/C32-488[»]
3NIFX-ray2.40A/C32-488[»]
3NIGX-ray2.25A/C32-488[»]
3T3MX-ray2.60A/C32-488[»]
3T3PX-ray2.20A/C32-488[»]
3ZDXX-ray2.45A/C32-488[»]
3ZDYX-ray2.45A/C32-488[»]
3ZDZX-ray2.75A/C32-488[»]
3ZE0X-ray2.95A/C32-488[»]
3ZE1X-ray3.00A/C32-488[»]
3ZE2X-ray2.35A/C32-488[»]
4CAKelectron microscopy20.50A32-989[»]
4Z7NX-ray2.60A/C32-486[»]
4Z7OX-ray2.85A/C32-486[»]
4Z7QX-ray2.70A/C32-485[»]
5HDBX-ray2.70A/C32-485[»]
ProteinModelPortaliP08514
SMRiP08514
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi109881, 17 interactors
ComplexPortaliCPX-1799 Integrin alphaIIb-beta3 complex
CORUMiP08514
DIPiDIP-68N
IntActiP08514, 3 interactors
MINTiP08514
STRINGi9606.ENSP00000262407

Chemistry databases

BindingDBiP08514
ChEMBLiCHEMBL212
DrugBankiDB00054 Abciximab
DB04863 Lefradafiban
DB00775 Tirofiban
GuidetoPHARMACOLOGYi2440

PTM databases

iPTMnetiP08514
PhosphoSitePlusiP08514

Polymorphism and mutation databases

BioMutaiITGA2B
DMDMi226694183

2D gel databases

OGPiP08514

Proteomic databases

PaxDbiP08514
PeptideAtlasiP08514
PRIDEiP08514
ProteomicsDBi52113
52114 [P08514-2]
52115 [P08514-3]
TopDownProteomicsiP08514-1 [P08514-1]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000262407; ENSP00000262407; ENSG00000005961 [P08514-1]
GeneIDi3674
KEGGihsa:3674
UCSCiuc002igt.2 human [P08514-1]

Organism-specific databases

CTDi3674
DisGeNETi3674
EuPathDBiHostDB:ENSG00000005961.17
GeneCardsiITGA2B
HGNCiHGNC:6138 ITGA2B
HPAiCAB018611
HPA031168
HPA031169
HPA031170
HPA031171
MalaCardsiITGA2B
MIMi187800 phenotype
273800 phenotype
607759 gene
neXtProtiNX_P08514
OpenTargetsiENSG00000005961
Orphaneti140957 Autosomal dominant macrothrombocytopenia
853 Fetal and neonatal alloimmune thrombocytopenia
849 Glanzmann thrombasthenia
PharmGKBiPA29938
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3637 Eukaryota
ENOG410XPVZ LUCA
GeneTreeiENSGT00760000118782
HOGENOMiHOG000231603
HOVERGENiHBG006186
InParanoidiP08514
KOiK06476
OMAiLWLLEWV
OrthoDBiEOG091G05Z4
PhylomeDBiP08514
TreeFamiTF105391

Enzyme and pathway databases

ReactomeiR-HSA-114608 Platelet degranulation
R-HSA-216083 Integrin cell surface interactions
R-HSA-3000178 ECM proteoglycans
R-HSA-354192 Integrin alphaIIb beta3 signaling
R-HSA-354194 GRB2:SOS provides linkage to MAPK signaling for Integrins
R-HSA-372708 p130Cas linkage to MAPK signaling for integrins
R-HSA-445144 Signal transduction by L1
R-HSA-5674135 MAP2K and MAPK activation
R-HSA-6802946 Signaling by moderate kinase activity BRAF mutants
R-HSA-6802948 Signaling by high-kinase activity BRAF mutants
R-HSA-6802949 Signaling by RAS mutants
R-HSA-6802952 Signaling by BRAF and RAF fusions
R-HSA-6802955 Paradoxical activation of RAF signaling by kinase inactive BRAF
R-HSA-8936459 RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function
SignaLinkiP08514
SIGNORiP08514

Miscellaneous databases

ChiTaRSiITGA2B human
EvolutionaryTraceiP08514
GeneWikiiITGA2B
GenomeRNAii3674
PROiPR:P08514
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000005961 Expressed in 154 organ(s), highest expression level in leukocyte
CleanExiHS_ITGA2B
ExpressionAtlasiP08514 baseline and differential
GenevisibleiP08514 HS

Family and domain databases

Gene3Di2.130.10.130, 1 hit
InterProiView protein in InterPro
IPR013517 FG-GAP
IPR013519 Int_alpha_beta-p
IPR000413 Integrin_alpha
IPR013649 Integrin_alpha-2
IPR018184 Integrin_alpha_C_CS
IPR028994 Integrin_alpha_N
IPR032695 Integrin_dom_sf
PfamiView protein in Pfam
PF01839 FG-GAP, 2 hits
PF00357 Integrin_alpha, 1 hit
PF08441 Integrin_alpha2, 1 hit
PRINTSiPR01185 INTEGRINA
SMARTiView protein in SMART
SM00191 Int_alpha, 5 hits
SUPFAMiSSF69179 SSF69179, 3 hits
PROSITEiView protein in PROSITE
PS51470 FG_GAP, 7 hits
PS00242 INTEGRIN_ALPHA, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiITA2B_HUMAN
AccessioniPrimary (citable) accession number: P08514
Secondary accession number(s): B2RCY8
, O95366, Q14443, Q17R67
Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 1, 1988
Last sequence update: April 14, 2009
Last modified: October 10, 2018
This is version 231 of the entry and version 3 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  4. Human cell differentiation molecules
    CD nomenclature of surface proteins of human leucocytes and list of entries
  5. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  7. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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Main funding by: National Institutes of Health

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