• Gene id: 3674

Gene Summary

• Gene Symbol: ITGA2B   Gene   UCSC   Ensembl
• Aliases: BDPLT16, BDPLT2, CD41, CD41B, GP2B, GPIIb, GT, GTA, HPA3, PPP1R93
• Gene name: integrin subunit alpha 2b
• Alternate names: integrin alpha-IIb, GPalpha IIb, alphaIIb protein, integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41), platelet fibrinogen receptor, alpha subunit, platelet glycoprotein IIb of IIb/IIIa complex, platelet membrane glycoprotein IIb, p,
• Gene location: 17q21.31 (44389648: 44372180)     Exons: 30     NC_000017.11
• Gene summary(Entrez): 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
• OMIM: 607759

Protein Summary

• Protein general information: P08514  
  • 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]
  • Length: 1039  
  • Mass: 113377
  • 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
• Sequence:

  MARALCPLQALWLLEWVLLLLGPCAAPPAWALNLDPVQLTFYAGPNGSQFGFSLDFHKDSHGRVAIVVGAPRTLG
  PSQEETGGVFLCPWRAEGGQCPSLLFDLRDETRNVGSQTLQTFKARQGLGASVVSWSDVIVACAPWQHWNVLEKT
  EEAEKTPVGSCFLAQPESGRRAEYSPCRGNTLSRIYVENDFSWDKRYCEAGFSSVVTQAGELVLGAPGGYYFLGL
  LAQAPVADIFSSYRPGILLWHVSSQSLSFDSSNPEYFDGYWGYSVAVGEFDGDLNTTEYVVGAPTWSWTLGAVEI
  LDSYYQRLHRLRGEQMASYFGHSVAVTDVNGDGRHDLLVGAPLYMESRADRKLAEVGRVYLFLQPRGPHALGAPS
  LLLTGTQLYGRFGSAIAPLGDLDRDGYNDIAVAAPYGGPSGRGQVLVFLGQSEGLRSRPSQVLDSPFPTGSAFGF
  SLRGAVDIDDNGYPDLIVGAYGANQVAVYRAQPVVKASVQLLVQDSLNPAVKSCVLPQTKTPVSCFNIQMCVGAT
  GHNIPQKLSLNAELQLDRQKPRQGRRVLLLGSQQAGTTLNLDLGGKHSPICHTTMAFLRDEADFRDKLSPIVLSL
  NVSLPPTEAGMAPAVVLHGDTHVQEQTRIVLDCGEDDVCVPQLQLTASVTGSPLLVGADNVLELQMDAANEGEGA
  YEAELAVHLPQGAHYMRALSNVEGFERLICNQKKENETRVVLCELGNPMKKNAQIGIAMLVSVGNLEEAGESVSF
  QLQIRSKNSQNPNSKIVLLDVPVRAEAQVELRGNSFPASLVVAAEEGEREQNSLDSWGPKVEHTYELHNNGPGTV
  NGLHLSIHLPGQSQPSDLLYILDIQPQGGLQCFPQPPVNPLKVDWGLPIPSPSPIHPAHHKRDRRQIFLPEPEQP
  SRLQDPVLVSCDSAPCTVVQCDLQEMARGQRAMVTVLAFLWLPSLYQRPLDQFVLQSHAWFNVSSLPYAVPPLSL
  PRGEAQVWTQLLRALEERAIPIWWVLVGVLGGLLLLTILVLAMWKVGFFKRNRPPLEEDDEEGE

• Structural information:
  • Interpro: IPR013517  IPR013519  IPR000413  IPR013649  IPR018184   IPR028994  IPR032695  
  • Prosite: PS51470 PS00242
  • PDB: 1DPK 1DPQ 1JX5 1KUP 1KUZ 1M8O 1RN0 1S4W 1TYE 1UV9 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
  • PDBsum: 1DPK 1DPQ 1JX5 1KUP 1KUZ 1M8O 1RN0 1S4W 1TYE 1UV9 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
  • DIP: 68
  • STRING: ENSP00000262407
• Other Databases: GeneCards:  ITGA2B  Malacards:  ITGA2B

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0007155	cell adhesion	IEA	biological process
GO:0008305	integrin complex	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0007229	integrin-mediated signaling pathway	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0007155	cell adhesion	IEA	biological process
GO:0002576	platelet degranulation	TAS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0030198	extracellular matrix organization	TAS	biological process
GO:0031092	platelet alpha granule membrane	TAS	cellular component
GO:0045652	regulation of megakaryocyte differentiation	TAS	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0007160	cell-matrix adhesion	IEA	biological process
GO:0050840	extracellular matrix binding	IEA	molecular function
GO:0005925	focal adhesion	IEA	cellular component
GO:0009897	external side of plasma membrane	IEA	cellular component
GO:0009986	cell surface	IEA	cellular component
GO:0002687	positive regulation of leukocyte migration	IEA	biological process
GO:0009986	cell surface	IEA	cellular component
GO:0070051	fibrinogen binding	IEA	molecular function
GO:0070527	platelet aggregation	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0007229	integrin-mediated signaling pathway	HDA	biological process
GO:0072562	blood microparticle	HDA	cellular component
GO:0009986	cell surface	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa05200	Pathways in cancer
hsa04151	PI3K-Akt signaling pathway
hsa05165	Human papillomavirus infection
hsa04810	Regulation of actin cytoskeleton
hsa04015	Rap1 signaling pathway
hsa04510	Focal adhesion
hsa05418	Fluid shear stress and atherosclerosis
hsa04611	Platelet activation
hsa05414	Dilated cardiomyopathy
hsa04512	ECM-receptor interaction
hsa05410	Hypertrophic cardiomyopathy
hsa05222	Small cell lung cancer
hsa05412	Arrhythmogenic right ventricular cardiomyopathy
hsa04640	Hematopoietic cell lineage

Diseases

Associated diseases	References
Macrothrombocytopenia	KEGG:H01740
Glanzmann thrombasthenia	KEGG:H00226
Macrothrombocytopenia	KEGG:H01740
Glanzmann thrombasthenia	KEGG:H00226
von Willebrand's disease 1	PMID:15226188
Platelet-type bleeding disorder 16	PMID:23912132
Thrombocytopenia	PMID:21454453
Glanzmann's thrombasthenia	PMID:7529063
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray