Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	3674
Gene name Gene Name - the full gene name approved by the HGNC.	Integrin subunit alpha 2b
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	ITGA2B
Synonyms (NCBI Gene) Gene synonyms aliases	BDPLT16, BDPLT2, CD41, CD41B, FMAIT2, GP2B, GPIIb, GT, GT1, GTA, HPA3, PPP1R93
Disease Acronyms (UniProt) Disease acronyms from UniProt database	BDPLT16, GT1
Chromosome Chromosome number	17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	17q21.31
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a member of the integrin alpha chain family of proteins. The encoded preproprotein is proteolytically processed to generate light and heavy chains that associate through disulfide linkages to form a subunit of the alpha-IIb/beta-3 integr

Show/Hide all(36)

SNP ID	Visualize variation	Clinical significance	Consequence
rs74475415	T>G	Likely-pathogenic	Missense variant, coding sequence variant
rs76066357	G>C	Pathogenic, benign	Missense variant, coding sequence variant
rs76811038	A>G,T	Pathogenic	Missense variant, coding sequence variant
rs78657866	C>T	Likely-pathogenic	Intron variant, missense variant, coding sequence variant
rs80002943	G>A	Pathogenic	Intron variant, missense variant, coding sequence variant
rs80277041	C>G	Pathogenic	Missense variant, coding sequence variant
rs137852906	G>A,T	Pathogenic	Coding sequence variant, synonymous variant, stop gained
rs137852907	C>T	Pathogenic	Coding sequence variant, missense variant
rs137852908	C>T	Pathogenic	Coding sequence variant, missense variant
rs137852910	C>T	Pathogenic	Coding sequence variant, missense variant
rs137852911	A>C,G	Pathogenic	Coding sequence variant, missense variant
rs746091910	C>T	Likely-pathogenic	Splice donor variant
rs759664025	C>G,T	Likely-pathogenic	Coding sequence variant, missense variant
rs763330792	G>A,C,T	Pathogenic	Intron variant
rs766503255	G>A,T	Pathogenic	Coding sequence variant, synonymous variant, missense variant
rs778608263	T>G	Likely-pathogenic	Missense variant, coding sequence variant
rs780017389	TCTACG>-	Pathogenic	Inframe deletion, coding sequence variant
rs879255508	GGCGCAGGCCTGG>-	Pathogenic	Coding sequence variant, splice acceptor variant, intron variant
rs879255509	C>T	Pathogenic	Splice donor variant
rs879255514	C>T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs1131692013	C>G,T	Likely-pathogenic	Coding sequence variant, missense variant, stop gained
rs1214448436	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1393747638	C>T	Pathogenic	Splice acceptor variant
rs1469711487	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555613692	A>G	Pathogenic	Splice donor variant
rs1598375578	A>-	Pathogenic	Frameshift variant, coding sequence variant, intron variant
rs1598375779	G>-	Pathogenic	Frameshift variant, coding sequence variant, intron variant
rs1598377051	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1598377980	->C	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1598378490	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1598379928	C>T	Pathogenic	Splice acceptor variant
rs1598380253	C>T	Pathogenic	Missense variant, coding sequence variant
rs1598380380	C>G	Likely-pathogenic	Splice acceptor variant
rs1598381654	AGCAGATCA>-	Likely-pathogenic	Coding sequence variant, inframe indel
rs1598381778	C>G	Likely-pathogenic	Splice donor variant
rs1598383011	C>T	Likely-pathogenic	Intron variant

Transcription factors

Show/Hide all(5)

Transcription factor	Regulation	Reference
FLI1	Unknown	15466856
GATA1	Unknown	8408012
RUNX1	Activation	12576332;17725493;18316480
SPI1	Unknown	9305885
STAT6	Unknown	20652946

Show/Hide all(21)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002576	Process	Platelet degranulation	TAS
GO:0002687	Process	Positive regulation of leukocyte migration	IEA
GO:0005515	Function	Protein binding	IPI	14681217, 15379538, 19279667, 22779914
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	TAS
GO:0005925	Component	Focal adhesion	IEA
GO:0007160	Process	Cell-matrix adhesion	IEA
GO:0007229	Process	Integrin-mediated signaling pathway	HDA	23382103
GO:0008305	Component	Integrin complex	IEA
GO:0009897	Component	External side of plasma membrane	IEA
GO:0009986	Component	Cell surface	HDA	23382103
GO:0030198	Process	Extracellular matrix organization	TAS
GO:0031092	Component	Platelet alpha granule membrane	TAS
GO:0042802	Function	Identical protein binding	IPI	11606749, 14681217, 15067009
GO:0045652	Process	Regulation of megakaryocyte differentiation	TAS
GO:0046872	Function	Metal ion binding	IEA
GO:0050840	Function	Extracellular matrix binding	IEA
GO:0070051	Function	Fibrinogen binding	IEA
GO:0070062	Component	Extracellular exosome	IDA	15908444
GO:0070527	Process	Platelet aggregation	IEA
GO:0072562	Component	Blood microparticle	HDA	22516433

MIM	HGNC	e!Ensembl
607759	6138	ENSG00000005961

Protein

UniProt ID

P08514

Protein name

Integrin alpha-IIb (GPalpha IIb) (GPIIb) (Platelet membrane glycoprotein IIb) (CD antigen CD41) [Cleaved into: Integrin alpha-IIb heavy chain; Integrin alpha-IIb light chain, form 1; Integrin alpha-IIb light chain, form 2]

Protein function

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 f

PDB

1DPK , 1DPQ , 1KUP , 1KUZ , 1M8O , 1S4W , 1TYE , 2K1A , 2K9J , 2KNC , 2MTP , 2N9Y , 2VC2 , 2VDK , 2VDL , 2VDM , 2VDN , 2VDO , 2VDP , 2VDQ , 2VDR , 3FCS , 3FCU , 3NID , 3NIF , 3NIG , 3T3M , 3T3P , 3ZDX , 3ZDY , 3ZDZ , 3ZE0 , 3ZE1 , 3ZE2 , 4CAK , 4Z7N , 4Z7O , 4Z7Q , 5HDB , 6V4P , 7KN0 , 7L8P , 7LA4 , 7SC4 , 7SFT , 7TCT , 7TD8 , 7THO , 7TMZ , 7TPD , 7U60

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01839	FG-GAP	320 → 362	FG-GAP repeat	Repeat
PF01839	FG-GAP	387 → 423	FG-GAP repeat	Repeat
PF08441	Integrin_alpha2	481 → 921	Integrin alpha	Family
PF00357	Integrin_alpha	1020 → 1034	Integrin alpha cytoplasmic region	Family

Tissue specificity

TISSUE SPECIFICITY: 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

Sequence

MARALCPLQALWLLEWVLLLLGPCAAPPAWALNLDPVQLTFYAGPNGSQFGFSLDFHKDS
HGRVAIVVGAPRTLGPSQEETGGVFLCPWRAEGGQCPSLLFDLRDETRNVGSQTLQTFKA
RQGLGASVVSWSDVIVACAPWQHWNVLEKTEEAEKTPVGSCFLAQPESGRRAEYSPCRGN
TLSRIYVENDFSWDKRYCEAGFSSVVTQAGELVLGAPGGYYFLGLLAQAPVADIFSSYRP
GILLWHVSSQSLSFDSSNPEYFDGYWGYSVAVGEFDGDLNTTEYVVGAPTWSWTLGAVEI
LDSYYQRLHRLRGEQMASYFGHSVAVTDVNGDGRHDLLVGAPLYMESRADRKLAEVGRVY
LFLQPRGPHALGAPSLLLTGTQLYGRFGSAIAPLGDLDRDGYNDIAVAAPYGGPSGRGQV
LVFLGQSEGLRSRPSQVLDSPFPTGSAFGFSLRGAVDIDDNGYPDLIVGAYGANQVAVYR
AQPVVKASVQLLVQDSLNPAVKSCVLPQTKTPVSCFNIQMCVGATGHNIPQKLSLNAELQ
LDRQKPRQGRRVLLLGSQQAGTTLNLDLGGKHSPICHTTMAFLRDEADFRDKLSPIVLSL
NVSLPPTEAGMAPAVVLHGDTHVQEQTRIVLDCGEDDVCVPQLQLTASVTGSPLLVGADN
VLELQMDAANEGEGAYEAELAVHLPQGAHYMRALSNVEGFERLICNQKKENETRVVLCEL
GNPMKKNAQIGIAMLVSVGNLEEAGESVSFQLQIRSKNSQNPNSKIVLLDVPVRAEAQVE
LRGNSFPASLVVAAEEGEREQNSLDSWGPKVEHTYELHNNGPGTVNGLHLSIHLPGQSQP
SDLLYILDIQPQGGLQCFPQPPVNPLKVDWGLPIPSPSPIHPAHHKRDRRQIFLPEPEQP
SRLQDPVLVSCDSAPCTVVQCDLQEMARGQRAMVTVLAFLWLPSLYQRPLDQFVLQSHAW
FNVSSLPYAVPPLSLPRGEAQVWTQLLRALEERAIPIWWVLVGVLGGLLLLTILVLAMWK
VGFFKRNRPPLEEDDEEGE

Sequence length

1039

Interactions

View interactions

	KEGG		Reactome
	Rap1 signaling pathway PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction Platelet activation Neutrophil extracellular trap formation Hematopoietic cell lineage Regulation of actin cytoskeleton Cytoskeleton in muscle cells Human papillomavirus infection Pathways in cancer Small cell lung cancer Hypertrophic cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy Dilated cardiomyopathy Fluid shear stress and atherosclerosis		Platelet degranulation Integrin cell surface interactions ECM proteoglycans Integrin signaling GRB2:SOS provides linkage to MAPK signaling for Integrins p130Cas linkage to MAPK signaling for integrins Signal transduction by L1 MAP2K and MAPK activation Signaling by moderate kinase activity BRAF mutants Signaling by high-kinase activity BRAF mutants Signaling by BRAF and RAF fusions Paradoxical activation of RAF signaling by kinase inactive BRAF RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function Signaling downstream of RAS mutants

Show/Hide Causal Diseases (7)

Disease term	Disease name	dbSNP ID	References
Causal
Anemia	Anemia	rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966 View all (89 more)
Arthritis	Juvenile arthritis	rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470	19565504
Cerebral palsy	Cerebral Palsy	rs121918149, rs75184679, rs730880264, rs587777428, rs797045067, rs767399782, rs564185858, rs886039513
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291 View all (32 more)
Glanzmann thrombasthenia	Glanzmann Thrombasthenia, Autosomal Dominant, Glanzmann Thrombasthenia, Type A, Glanzmann thrombasthenia	rs879255508, rs137852906, rs763330792, rs137852907, rs879255509, rs137852908, rs780017389, rs137852910, rs76811038, rs137852911, rs80277041, rs121918444, rs121918445, rs121918446, rs2143068731 View all (36 more)	21454453, 9834222, 24498605
Leukemia	Leukemia, Myelocytic, Acute	rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297	27903959
Macrothrombocytopenia	Macrothrombocytopenia, Autosomal dominant macrothrombocytopenia	rs121908063, rs5030764, rs121918037, rs80338835, rs80338834, rs80338829, rs121913655, rs80338831, rs121913656, rs80338826, rs80338828, rs587776808, rs80338827, rs121913657, rs876661302 View all (32 more)	21454453

Show/Hide Unknown Diseases (5)

Disease term	Disease name	Source
Unknown
Alloimmune thrombocytopenia	Fetal and neonatal alloimmune thrombocytopenia, Neonatal Alloimmune Thrombocytopenia	ClinVar
Thrombasthenia	Glanzmann's thrombasthenia	GenCC
Platelet-type bleeding disorder	platelet-type bleeding disorder 16	GenCC
Glanzmann Thrombasthenia	Glanzmann thrombasthenia 1, Glanzmann thrombasthenia	GenCC
Parkinson Disease	Parkinson Disease	GWAS

Show/Hide Text Mining Associations (101)

Disease Name	Relationship Type	References
Associations from Text Mining
Acute Coronary Syndrome	Associate	11079651
Acute Coronary Syndrome	Inhibit	12487787
Acute erythroleukemia	Associate	9753066
Anemia Aplastic	Inhibit	22315490
Anemia Refractory with Excess of Blasts	Associate	34964228
Anemia Sickle Cell	Associate	39267277
Angina Unstable	Associate	11719362, 12025897
Arthritis Rheumatoid	Associate	25639560
Atherosclerosis	Associate	21353223
Atrial Fibrillation	Stimulate	27736274
Atrial Fibrillation	Associate	30402862
Autoimmune Diseases	Stimulate	34462261
Bernard Soulier Syndrome	Associate	40565512, 8916947
beta Thalassemia	Stimulate	15795925
beta Thalassemia	Associate	26201722, 27288406, 30407298, 34474730, 34766575, 36209112, 39267277
Blood Platelet Disorders	Associate	12091342, 15681423, 22294727, 25466164, 25728920, 26096001, 27469266, 28948953, 30188609, 30721642, 31851564, 33600779, 33712020, 34066320, 35596611, 36179652, 40126091 View all (2 more)
Blood Platelet Disorders	Inhibit	12487787
Bone Diseases	Inhibit	27153759
Breast Neoplasms	Associate	31759986, 33267867
Carcinoma Hepatocellular	Associate	34469466
Carcinoma Renal Cell	Associate	26198048
Cardiomyopathies	Associate	30402862
Cardiovascular Diseases	Associate	11514957, 20604957
Cell Transformation Viral	Associate	37729123
Cerebral Hemorrhage	Associate	20823666
Cerebral Infarction	Associate	18383324, 25748430
Cerebrovascular Disorders	Associate	25748430
Chagas Cardiomyopathy	Associate	31538834
Coronary Artery Disease	Associate	10080474, 22738689, 26556638
COVID 19	Associate	33413422, 34440879, 35557984
COVID 19 post intensive care syndrome	Associate	34752677
Death	Associate	27761580
Diabetes Mellitus	Associate	18983513, 20604957
Diabetes Mellitus	Stimulate	20823666, 37522815
Diabetes Mellitus Type 2	Associate	18983513
Drug Resistant Epilepsy	Associate	9432017
Endocarditis	Associate	21044892
Epidermodysplasia Verruciformis	Associate	35202881
Epileptic Syndromes	Associate	33276370
Fibrosis	Associate	34469466
Genetic Diseases Inborn	Associate	22394243
Heart Failure	Associate	36761158
Hemangioblastoma	Associate	26468019
Hemoglobinopathies	Associate	34766575
Hemophilia A	Associate	35054807
Hemorrhage	Associate	15099289, 15226188, 19172520, 25734216, 29090484, 29675921, 3006053, 36142161, 40126091
Hypomagnesemia primary	Associate	36199105
Idiopathic Noncirrhotic Portal Hypertension	Inhibit	31851564
Inflammation	Associate	12487782, 17644514
Jacobsen Distal 11q Deletion Syndrome	Associate	15232614
Kidney Failure Chronic	Associate	22880801
Kidney Failure Chronic	Inhibit	7526025
Kidney Neoplasms	Associate	30967864
Leukemia	Associate	15345290, 23460890
Leukemia Megakaryoblastic Acute	Associate	3165292
Leukemia Megakaryoblastic Acute	Stimulate	9753066
Leukemia Myeloid Acute	Associate	12717686, 23450818, 36199105
Leukemia Myeloid Acute	Stimulate	37729123
Leukemia T Cell	Associate	9753066
Macrothrombocytopenia Autosomal Dominant Tubb1 Related	Associate	29090484, 33276370
Malpuech facial clefting syndrome	Associate	33090654
Microvascular Angina	Associate	23558828
Myelodysplastic Syndromes	Associate	34964228, 37729123
Myeloproliferative Disorders	Associate	23450818
Myocardial Infarction	Associate	12073410, 15227729, 20823666, 22329762, 40305362
Myocardial Infarction	Stimulate	29329538
Myocardial Ischemia	Associate	37892152
Myopathies Structural Congenital	Associate	29799301
Neoplasms	Stimulate	11682459
Neoplasms	Associate	21182493, 30335544, 30967864
Neoplasms Basal Cell	Associate	11682459, 14691052
Non ST Elevated Myocardial Infarction	Associate	40305362
Obesity	Stimulate	33207279
Osteoporosis	Associate	27153759
Platelet Aggregation Spontaneous	Associate	2932469
Primary Myelofibrosis	Associate	15454487
Pulmonary Disease Chronic Obstructive	Stimulate	30532530
Purpura Thrombocytopenic Idiopathic	Associate	11535516, 30967864, 8977249
Purpura Thrombocytopenic Idiopathic	Stimulate	36738663
Sleep Apnea Obstructive	Associate	21509332
Small Cell Lung Carcinoma	Associate	37179440
ST Elevation Myocardial Infarction	Associate	34360827
Stroke	Associate	35557984
Takayasu Arteritis	Associate	16636497
Telangiectasia Hereditary Hemorrhagic	Associate	40126091
Thalassemia	Associate	34766575, 40542663
Thrombasthenia	Associate	11798398, 12871379, 1317725, 14508803, 15099289, 1702098, 19691478, 2014236, 21487445, 22394243, 25728920, 25734216, 26096001, 27469266, 28948953 View all (18 more)
Thrombasthenia	Inhibit	25607928
Thrombocythemia Essential	Inhibit	17577920
Thrombocythemia Essential	Associate	33599741, 9354672
Thrombocytopenia	Associate	31119735, 33276370
Thrombocytopenia chromosome breakage	Associate	31119735
Thrombocytopenia Neonatal Alloimmune	Associate	11370330, 22070736, 25827233
Thrombocytopenia Neonatal Alloimmune	Stimulate	15678278
Thrombosis	Associate	10080474, 12073410, 17127487, 26160282, 30721642
Thrombosis	Stimulate	22329762
Transfusion Reaction	Associate	15678278
Tuberculosis Pulmonary	Associate	29420060
Tuberculosis Pulmonary	Stimulate	37522815
von Willebrand Disease Type 1	Associate	15099289
von Willebrand Diseases	Associate	2932469

ITGA2B (integrin subunit alpha 2b)