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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

ITGA2B Gene

protein-coding GIFtS: 72
GCID: GC17M042460

integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa...

(Previous names: integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa...)
(Previous symbol: GP2B)

Explore 58 diseases affiliated with
ITGA2B via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Integrin, Alpha 2b (Platelet Glycoprotein IIb Of IIb/IIIa Complex, Antigen CD41)¹ ²		GT²
GP2B¹ ² ³ ⁵		GTA²
CD41B¹ ² ⁵		HPA3²
CD41¹ ²		Integrin Alpha-IIb²
Platelet Membrane Glycoprotein IIb² ³		Platelet Fibrinogen Receptor, Alpha Subunit²
GPIIb² ³		Platelet-Specific Antigen BAK²
GPalpha IIb² ³		ITGAB³
Integrin, Alpha 2b (Platelet Glycoprotein IIb Of IIb/IIIa Complex, Antigen CD41B)¹		CD41 Antigen³
BDPLT2²

External Ids:	HGNC: 6138¹	Entrez Gene: 3674²	Ensembl: ENSG00000005961⁷	OMIM: 607759⁵	UniProtKB: P08514³

Export aliases for ITGA2B gene to outside databases

Previous GC identifers: GC17M042191 GC17M044626 GC17M042924 GC17M039805 GC17M038213

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for ITGA2B:

ITGA2B encodes integrin alpha chain 2b. Integrins are heterodimeric integral membrane proteins composed of an alpha

chain and a beta chain. Alpha chain 2b undergoes post-translational cleavage to yield disulfide-linked light and heavy

chains that join with beta 3 to form a fibronectin receptor expressed in platelets that plays a crucial role in

coagulation. Mutations that interfere with this role result in thrombasthenia. In addition to adhesion, integrins are

known to participate in cell-surface mediated signalling. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: ITA2B_HUMAN, P08514

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 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

summary for ITGA2B:

Integrins are ubiquitously expressed adhesion molecules. They are cell-surface receptors that exist as

heterodimers of alpha and beta subunits. At physiological conditions, integrins are highly glycosylated and

contain a Ca2+ or Mg2+ ion, which is essential for ligand binding. Integrin receptors are critical for cell

attachment to the extracellular matrix (ECM) and this is mediated through integrin-fibronectin,

-vitronectin, -collagen and -laminin interactions. Intracellularly, integrins form adhesion complexes with

proteins including talin, vinculin, paxillin and alpha-actinin. They also regulate kinases, such as focal

adhesion kinase and Src family kinases, to mediate attachment to the actin cytoskeleton. Integrins also have

a significant role in cell signaling and can activate protein kinases involved in the regulation of cell

growth, division, survival, differentiation, migration and apoptosis. Glycoprotein II/IIIb (alphaIIbbeta3)

is an integrin receptor found on the surface of platelets. It is involved in the cross-linking of platelets

with fibrin, and so has a vital role in blood clot formation.

Gene Wiki entry for ITGA2B

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000017.10 NC_018928.1 NT_010783.15

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the ITGA2B gene promoter:
AML1a Nkx2-5 ATF
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: ITGA2B promoter sequence

Search SABiosciences Chromatin IP Primers for ITGA2B

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ITGA2B

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17q21.32 Ensembl cytogenetic band: 17q21.31 HGNC cytogenetic band: 17q21.32

ITGA2B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ITGA2B gene location

GeneLoc information about chromosome 17 GeneLoc Exon Structure

GeneLoc location for GC17M042460: view genomic region (about GC identifiers)

Start:	42,449,548 bp from pter	End:	42,466,873 bp from pter
Size:	17,326 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: ITA2B_HUMAN, P08514 (See protein sequence)

Recommended Name: Integrin alpha-IIb precursor

Size: 1039 amino acids; 113377 Da

Subunit: 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

Subcellular location: Membrane; Single-pass type I membrane protein

6/29 PDB 3D structures from and Proteopedia for ITGA2B (see all 29):

1DPK (3D)

1DPQ (3D)

1JX5 (3D)

1KUP (3D)

1KUZ (3D)

1M8O (3D)

Secondary accessions: B2RCY8 O95366 Q14443 Q17R67

Alternative splicing: 3 isoforms: P08514-1 P08514-2 P08514-3

Explore the universe of human proteins at neXtProt for ITGA2B: NX_P08514

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P08514

ITGA2B Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_000410.2

ENSEMBL proteins:

ENSP00000465534 ENSP00000467269 ENSP00000262407 ENSP00000340536 ENSP00000366268

Reactome Protein details: P08514
Human Recombinant Protein Products for ITGA2B:

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	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for ITGA2B

Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005886	plasma membrane	TAS	--
GO:0005887	integral to plasma membrane	TAS	2439501
GO:0005925	focal adhesion	IEA	--
GO:0008305	integrin complex	IEA	--
GO:0009897	external side of plasma membrane	IEA	--

ITGA2B for ontologies About GeneDecksing

ITGA2B Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of ITGA2B
	R&D Systems Antibodies for ITGA2B (Integrin alpha 2b/CD41)
	Cell Signaling Technology (CST) Antibodies for ITGA2B
	OriGene Antibodies (see all 2): ITGA2B OriGene Custom Antibody Services for ITGA2B
	GenScript Custom Superior Antibodies Services for ITGA2B
	Novus Biologicals ITGA2B Antibodies
	Abcam antibodies for ITGA2B
	Uscn Antibodies for ITGA2B
	ThermoFisher Antibody for ITGA2B

Assay Products for ITGA2B:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for ITGA2B
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for ITGA2B

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

ITGA2B for domains About GeneDecksing

5 InterPro domains/families:

IPR000413 Integrin_alpha

IPR013519 Int_alpha_beta-p

IPR018184 Integrin_alpha_C_CS

IPR013517 FG-GAP

IPR013649 Integrin_alpha-2

Graphical View of Domain Structure for InterPro Entry P08514

ProtoNet protein and cluster: P08514

3 Blocks protein families:

IPB000413 Integrins alpha chain

IPB013513 Integrin alpha chain

IPB013517 FG-GAP

UniProtKB/Swiss-Prot: ITA2B_HUMAN, P08514

Similarity: Belongs to the integrin alpha chain family

Similarity: Contains 7 FG-GAP repeats

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: ITA2B_HUMAN, P08514

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 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

Genatlas biochemistry entry for ITGA2B:

integrin,alpha 2B,cell surface adhesion receptor mediating cell-adhesion to extra cellular matrix or to other

cells,through hetero dimerization and connecting to the cytoskeleton and various signaling molecules within

cells,dimerizing with ITGB3 in fibrinogen,fibronectin,von Willebrand factor,vitronectin,thrombospondin receptors

Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004872	receptor activity	--	--
GO:0005515	protein binding	IPI	15379538
GO:0042802	identical protein binding	IPI	15067009
GO:0046872	metal ion binding	IEA	--
GO:0050840	extracellular matrix binding	IEA	--

ITGA2B for ontologies About GeneDecksing

Phenotypes:
1 GenomeRNAi human phenotype for ITGA2B:

Increased circadian period len

8 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Itga2b):

cardiovascular system	cellular	digestive/alimentary	embryogenesis	hematopoietic system
homeostasis/metabolism	immune system	reproductive system

ITGA2B for phenotypes About GeneDecksing

Animal Models:
Mouse knock-out Itga2b^tm1Tlr for ITGA2B

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for ITGA2B

miRNA Products:		OriGene 3'-UTR Clone: ITGA2B Browse MicroRNA Expression Plasmids
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		SwitchGear 3'UTR luciferase reporter plasmid: ITGA2B 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ITGA2B (see all 4) OriGene shRNA RFP: ITGA2B OriGene siRNA: ITGA2B
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		Sirion Biotech Custom design and validation of potent shRNA sequences against ITGA2B

Gene Editing Products:			DNA2.0 Custom Protein Engineering Service for ITGA2B
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Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ITGA2B (see all 2) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ITGA2B OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ITGA2B

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/35 super-pathways (see all 35) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Integrin Pathway

Integrin Pathway	1.00	UPA-UPAR Pathway	0.51
FAK1 Signaling	0.67	Transendothelial Migration of Leukocytes	0.38
GnRH Signaling	0.56

Apoptotic Pathways in Synovial Fibroblasts

PPAR Pathway	0.66	Actin-Based Motility by Rho Family GTPases	0.52
Rac1 Pathway	0.58	Rap1 Pathway	0.42
Glioma Invasiveness	0.54

GRB2:SOS provides linkage to MAPK signaling for Intergrins

	GRB2:SOS provides linkage to MAPK signaling for Intergrins	1.00			SHC1 dissociates from integrin alphaIIb beta3	0.41
	p130Cas linkage to MAPK signaling for integrins	0.76			SHC1 bound to integrin alphaIIb beta3 is phosphorylated somehow	0.41

Axon guidance

	Axon guidance	1.00			L1CAM interactions	0.39
	Developmental Biology	0.69			Signal transduction by L1	0.12

Actin Nucleation by ARP-WASP Complex

	Actin Nucleation by ARP-WASP Complex	1.00			RhoA Pathway	0.35
	Actin Nucleation and Branching	0.66			CDC42 Pathway	0.34

Pathway sources
See GeneCards unified pathways
Show all pathways

1 EMD Millipore Pathway for ITGA2B

Cell adhesion Integrin inside-out signaling

1 R&D Systems Pathway for ITGA2B

Articular Cartilage Extracellular Matrix

5/33 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for ITGA2B (see all 33)

	RhoA Pathway
	Paxillin Interactions
	Molecular Mechanisms of Cancer
	CDK5 Pathway
	Tec Kinases Signaling

1 Cell Signaling Technology (CST) Pathway for ITGA2B

Adhesion

1 GeneGo (Thomson Reuters) Pathway for ITGA2B

Cell adhesion Integrin inside-out signaling

5/6 BioSystems Pathways for ITGA2B (see all 6)

	Focal Adhesion
	Integrin-mediated cell adhesion
	Arrhythmogenic right ventricular cardiomyopathy
	Arf6 signaling events
	Ephrin B reverse signaling

5/16 Reactome Pathways for ITGA2B (see all 16)

	Hemostasis
	L1CAM interactions
	Integrin cell surface interactions
	Developmental Biology
	p130Cas linkage to MAPK signaling for integrins

1 PharmGKB Pathway for ITGA2B

Platelet Aggregation Inhibitor Pathway, Pharmacodynamics

5/9 Kegg Pathways (Kegg details for ITGA2B) (see all 9):

	Focal adhesion
	ECM-receptor interaction
	Hematopoietic cell lineage
	Regulation of actin cytoskeleton
	Pathways in cancer

ITGA2B for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for ITGA2B

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/119 Interacting proteins for ITGA2B (P08514^{1, 2, 3} ENSP00000262407⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 119)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
ITGB3	P05106¹^,²^,³, ENSP00000262017⁴	EBI-702693,EBI-702847 MINT-7261298 MINT-7261237 MINT-7261175 MINT-7261217 MINT-7261198 MINT-7261279 MINT-7261157 MINT-7261259 I2D: score=6 STRING: ENSP00000262017
COL2A1	P02458³, ENSP00000369889⁴	I2D: score=3 STRING: ENSP00000369889
GRB2	P62993³, ENSP00000339007⁴	I2D: score=3 STRING: ENSP00000339007
CALR	P27797³, ENSP00000320866⁴	I2D: score=2 STRING: ENSP00000320866
CD36	P16671³, ENSP00000308165⁴	I2D: score=2 STRING: ENSP00000308165

About this table

Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0002576	platelet degranulation	TAS	--
GO:0007155	cell adhesion	TAS	2439501
GO:0007160	cell-matrix adhesion	IEA	--
GO:0007229	integrin-mediated signaling pathway	IEA	--
GO:0007411	axon guidance	TAS	--

ITGA2B for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

ITGA2B for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Compounds for ITGA2B available from Tocris Bioscience About this table

Compound	Action	CAS #
RGDS peptide	Integrin binding sequence; inhibits integrin receptor function	[91037-65-9]
MNS	Selective inhibitor of Src and Syk	[1485-00-3]
Echistatin, alpha1 isoform	alphaVbeta3 and glycoprotein IIb/IIIa (alphaIIbbeta3) inhibitor	[154303-05-6]
GR 144053 trihydrochloride	Glycoprotein IIb/IIIa (alphaIIbbeta3) receptor antagonist. Antithrombotic	[201304-22-5]

2 DrugBank Compounds for ITGA2B About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Tirofiban	--	144494-65-5	target	antagonist	11342206 11929319 12057986 11076818 11565896 20210689
Abciximab	7E3 antibody (see all 4)	143653-53-6	target	antagonist	18510478 12749745 19499855

10/13 Novoseek chemical compound relationships for ITGA2B gene (see all 13) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
fibrinogen	74.9	42	8191392 (4), 7566578 (3), 1705115 (2), 9227689 (2) (see all 29)
adp	59.8	11	16769603 (1), 20305399 (1), 7794942 (1), 17869981 (1)
12-o-tetradecanoylphorbol 13-acetate	30.3	3	1893970 (2), 1779468 (1)
gf 109203x	20.7	1	8547633 (1)
abciximab	20	2	11224490 (1), 16261288 (1)
arachidonic acid	18.1	2	20305399 (1)
isoleucine	5.13	1	2350579 (1)
lysine	0	2	1744141 (1), 11122161 (1)
cytosine	0	2	15886807 (1), 11091187 (1)
calcium	0	15	8916916 (4), 2039481 (2), 16431050 (1), 7508443 (1) (see all 7)

Search CenterWatch for drugs/clinical trials and news about ITGA2B / ITA2B

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for ITGA2B gene:

NM_000419.3

Unigene Cluster for ITGA2B:

Integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)

Hs.411312 [show with all ESTs]

Unigene Representative Sequence: NM_000419

12 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000588098 ENST00000587295 ENST00000262407(uc002igt.1 uc002igu.1)

ENST00000592462 ENST00000592226 ENST00000591990 ENST00000589645 ENST00000592075

ENST00000592253 ENST00000592944 ENST00000353281 ENST00000377068

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		Sirion Biotech Custom design and validation of potent shRNA sequences against ITGA2B

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		GenScript: all cDNA clones in your preferred vector: ITGA2B (NM_000419)
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		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ITGA2B
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ITGA2B

Additional cDNA sequence:

AF098114.1 AK297155.1 AK303081.1 AK315335.1 BC117443.1 BC126442.1 DQ841705.1 J02764.1

M18085.1 M34480.1 X06831.1

6 DOTS entries:

DT.410560 DT.75171864 DT.95158168 DT.100653263 DT.120970941 DT.121645427

24/99 AceView cDNA sequences (see all 99):

AW204899 BM145891 CA433534 BI821446 BF513348 BM920426 J02764 BE018845

NM_000419 BX281671 BX116497 AF098114 R28994 BQ068277 BC030200 M18085

AW513968 BX375181 X06831 BI522674 BC029298 AL048974 BI913364 BM926475

GeneLoc Exon Structure

5 Alternative Splicing Database (ASD) splice patterns (SP) for ITGA2B About this scheme

ExUns:	1	^	2	^	3	^	4a	·	4b	^	5a	·	5b	^	6	^	7	^	8	^	9a	·	9b	^	10	^	11a	·	11b	^	12	^	13	^	14	^	15	^	16	^	17	^	18	^	19	^	20	^	21	^	22	^
SP1:							-				-																		-
SP2:
SP3:
SP4:											-
SP5:

ExUns:	23	^	24	^	25	^	26a	·	26b	^	27	^	28	^	29	^	30
SP1:									-
SP2:
SP3:
SP4:
SP5:

ECgene alternative splicing isoforms for ITGA2B

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

ITGA2B expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TGGAAGGTCG

About this image

ITGA2B expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

5 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Blood

Peripheral Blood

Megakaryocytes

Selective marker (cell-identifying gene)

Blood

Extraembryonic Mesoderm

Extraembryonic Blood Islands

Primitive Erythrocytes

Blood

Yolk Sac

Definitive Yolk Sac

Definitive Hematopoietic Stem Cells

Blood

Yolk Sac

Definitive Yolk Sac

Erythroid Progenitor Cells

Blood

Liver

Liver Lobule

Liver

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 6 LifeMap Cells

Name

Category

Enriched erythrocyte-like cells (Generation and expan...)

Megakaryocytes-like cells (Generation of hemato...)

Hematopoietic progenitor cells (Generation of hemato...)

Platelets and megakaryocytes like cells (Generation of hemato...)

Hematopoietic progenitor cells (Derivation of hemato...)

Blast colony cells (Generation and expan...)

See ITGA2B Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for ITGA2B

SOURCE GeneReport for Unigene cluster: Hs.411312

UniProtKB/Swiss-Prot: ITA2B_HUMAN, P08514

Tissue specificity: Isoform 1 and isoform 2 were identified in platelets and megakaryocytes, but not in reticulocytes

or in Jurkat and U-937 white blood cell line. Isoform 3 is expressed by leukemia, prostate adenocarcinoma and melanoma

cells but not by platelets or normal prostate or breast epithelial cells

SABiosciences Expression via Pathway-Focused PCR Arrays including ITGA2B:

Osteogenesis in human mouse rat

Focal Adhesions in human mouse rat

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In Situ
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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for ITGA2B gene from 4/16 species (see all 16) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
lizard (Anolis carolinensis)	Reptilia	ITGA2B⁶	--	47(a)	1 ↔ 1	6(64000488-64056425)
zebrafish (Danio rerio)	Actinopterygii	itga2b¹	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41B) less	52.8(n) 44.85(a)		445380 NM_001003857.1 NP_001003857.1
fruit fly (Drosophila melanogaster)	Insecta	alphaPS4³	cell-matrix adhesion cell adhesion receptor	27(a) (best of 3)		51E11 --
worm (Caenorhabditis elegans)	Secernentea	pat-2⁶	Integrin alpha pat-2	21(a)	1 → many	III(8818821-8825189)

ENSEMBL Gene Tree for ITGA2B (if available)
TreeFam Gene Tree for ITGA2B (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for ITGA2B gene

ITGA1² ITGA6² ITGA3² ITGA7² ITGA8² ITGAM² ITGA11² ITGA2²

ITGA5² ITGAE² ITGAD² ITGAV² ITGAX² ITGAL² ITGA9² ITGA4²

ITGA10²

8 SIMAP similar genes for ITGA2B using alignment to 8 protein entries: ITA2B_HUMAN (see all proteins):

ITGA3 ITGA6 ITGA7 ITGA8 ITGA4 ITGA5

ITGAV ITGA9

ITGA2B for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

UniProtKB/Swiss-Prot: ITA2B_HUMAN, P08514

Polymorphism: 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)

SNP ID	Valid	Clinical significance	Chr 17 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs78218617^1,2	C	pathogenic	40374769(-)	`GCTTAC/G/TGGGGC`	3	Y *	stg¹ syn¹		0	--	--	--	--
rs76811038^1,2	C	pathogenic	40375615(-)	`CCCCAC/TTGTGC`	2	T I	mis¹		0	--	--	--	--
rs80277041^1,2	C	pathogenic	40375706(-)	`CTCTAC/G/TACACG`	3	H Q	mis¹		0	--	--	--	--
rs5911^1,2	C,F,A,H	pathogenic	40379689(+)	`TGGGGA/CTGGGC`	2	S I	mis¹ ese³		16		MN EA NA NS WA CSA	4964
rs80002943^1,2	C	pathogenic	40380654(-)	`GCAGTC/TGCACG`	2	S L	mis¹		0	--	--	--	--
rs78165611^1,2	C,F	pathogenic	40380937(-)	`TCCGGG/ACCTTG`	2	/T /A	mis¹		1		NA	4552
rs149468422^1,2	C,F	other	40379682(+)	`GGGCAG/TCCCCC`	2	M L	mis¹		1		NA	2516
rs114923137^1,2	C,F	--	38213321(+)	`CCCAAA/CGACAG`	1	--	ds500¹		1		WA	118
rs73305837^1,2	C	--	38213359(+)	`ACTCTC/GTCGTT`	1	--	ds500¹		3		WA CSA	122
rs56360368^1,2	C	--	38213387(+)	`TAGGTC/TCCCGT`	1	--	ds500¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for ITGA2B (42449548 - 42466873 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for ITGA2B: --
Human Gene Mutation Database (HGMD): ITGA2B

Locus Specific Mutation Databases (LSDB): ITGA2B

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ITGA2B

DNA2.0 Custom Variant and Variant Library Synthesis for ITGA2B

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

ITGA2B for disorders           About GeneDecksing

OMIM gene information: 607759
OMIM disorders: 273800
UniProtKB/Swiss-Prot: ITA2B_HUMAN, P08514

Defects in ITGA2B are a cause of Glanzmann thrombasthenia (GT) [MIM:273800]; also known as thrombasthenia of

Glanzmann and Naegeli. GT is the most common inherited disease of platelets. It is an autosomal recessive disorder

characterized by mucocutaneous bleeding of mild-to-moderate severity and the inability of this integrin to recognize

macromolecular or synthetic peptide ligands. GT has been classified clinically into types I and II. In type I,

platelets show absence of the glycoprotein IIb/beta-3 complexes at their surface and lack fibrinogen and clot

retraction capability. In type II, the platelets express the glycoprotein IIb/beta-3 complex at reduced levels (5-20%

controls), have detectable amounts of fibrinogen, and have low or moderate clot retraction capability. The platelets

of GT 'variants' have normal or near normal (60-100%) expression of dysfunctional receptors

20/58 diseases for ITGA2B (see all 58): About MalaCards

thrombasthenia glanzmann's thrombasthenia heparin-induced thrombocytopenia von willebrand's disease

basilar artery occlusion gas gangrene neonatal alloimmune thrombocytopenia wiskott-aldrich syndrome

autoimmune thrombocytopenic purpura retinal vein occlusion myocardial infarction blood clots

acute myocardial infarction intermediate coronary syndrome type 2 diabetes mellitus hemorrhagic fever

coronary heart disease thrombocytopenia hemorrhagic fever with renal syndrome cerebrovascular accident

12 diseases from the University of Copenhagen DISEASES database for ITGA2B:

Glanzmann's thrombasthenia Myocardial infarction Intermediate coronary syndrome Thrombocytopenia

Coronary heart disease Bernard-Soulier syndrome Cerebrovascular accident Autoimmune thrombocytopenic purpura

Atherosclerosis Von Willebrand's disease Leukemia Diabetes mellitus

10/21 Novoseek disease relationships for ITGA2B gene (see all 21) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
glanzmann thrombasthenia	94.6	31	1967954 (3), 20020534 (2), 1635160 (1), 7794942 (1) (see all 26)
bernard-soulier syndrome	73.7	1	8457642 (1)
posttransfusion purpura	64.1	1	15678278 (1)
platelet disorder	60.9	1	16793673 (1)
coagulopathy	58.1	3	1967954 (1), 20020534 (1), 9695977 (1)
thrombocytopenia	53	4	12724616 (1), 15678278 (1), 15157339 (1), 2301979 (1)
erythroleukemia	49.6	2	2351656 (1), 10575637 (1)
autoimmune thrombocytopenia	40	1	15678278 (1)
purpura thrombocytopenic	39.7	1	7605170 (1)
leukemia	27.1	2	8750618 (1), 7539513 (1)

Genatlas disease: ITGA2B

Glanzmann thrombasthenia (GpIIb-GpIIIa complex deficiency)

Genetic Association Database (GAD): ITGA2B
Human Genome Epidemiology (HuGE) Navigator: ITGA2B (65 documents)

Export disorders for ITGA2B gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for ITGA2B gene, integrated from 9 sources (see all 522):
(articles sorted by number of sources associating them with ITGA2B)

Utopia: connect your pdf to the dynamic
world of online information

Double heterozygosity of the GPIIb gene in a Swiss patient with Glanzmann's thrombasthenia. (PubMed id 9734640)^{1, 2, 9} Ruan J.... Nurden A.T. (1998)
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)^{1, 2, 9} Wilcox D.A.... Newman P.J. (1995)
Glanzmann thrombasthenia secondary to a Gly273-->Asp mutation adjacent to the first calcium-binding domain of platelet glycoprotein IIb. (PubMed id 8282784)^{1, 2, 9} Poncz M.... Bennett J.S. (1994)
GPIIb and GPIIIa amino acid sequences deduced from human megakaryocyte cDNAs. (PubMed id 2345548)^{1, 2, 9} Frachet P....Marguerie G. (1990)
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)^{1, 2, 9} Gonzalez-Manchon C.... Parrilla R. (1999)
Human platelets and megakaryocytes contain alternately spliced glycoprotein IIb mRNAs. (PubMed id 2351656)^{1, 2, 9} Bray P.F.... Shuman M.A. (1990)
Polymorphism of human platelet membrane glycoprotein IIb associated with the Baka/Bakb alloantigen system. (PubMed id 2350579)^{1, 2, 9} Lyman S.... Newman P.J. (1990)
Organization of the gene for platelet glycoprotein IIb. (PubMed id 2322558)^{1, 2, 9} Heidenreich R.... Poncz M. (1990)
Association of the gene polymorphisms of platelet glycoprotein Ia and IIb/IIIa with myocardial infarction and extent of coronary artery disease in the Korean population. (PubMed id 15227729)^{1, 4, 9} Park S....Jang Y. (2004)
Description of 10 new mutations in platelet glycoprotein IIb (alphaIIb) and glycoprotein IIIa (beta3) genes. (PubMed id 11798398)^{1, 2, 9} Vinciguerra C....Negrier C. (2001)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 3674	HGNC: 6138	AceView: ITGA2B	Ensembl:ENSG00000005961	euGenes: HUgn3674
ECgene: ITGA2B	Kegg: 3674	H-InvDB: ITGA2B

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for ITGA2B	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for ITGA2B	Genetics and Cytogenetics in Oncology and Haematology
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ITGA2B

Intellectual Property for ITGA2B gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for ITGA2B gene:
Search GeneIP for patents involving ITGA2B

GeneCards and IP:
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integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa...

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