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ITGA2B Gene

protein-coding GIFtS: 68

GC17M038213

integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)
(Previous names: integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41B) )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: GP2B)

		Products

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

Aliases & Descriptions
integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)¹ ²		HPA3²
CD41B¹ ² ⁵		integrin alpha-IIb²
GP2B² ³ ⁵		platelet-specific antigen BAK²
CD41¹ ²		platelet fibrinogen receptor, alpha subunit²
Platelet membrane glycoprotein IIb² ³		GTA²
GPalpha IIb² ³		CD41 antigen³
GPIIb² ³		ITGAB³
integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41B)¹

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

Export aliases for ITGA2B gene to outside databases

Previous GC identifers: GC17M042191 GC17M044626 GC17M042460 GC17M042924 GC17M039805

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki,
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)

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 60), Regulatory elements and Epigenetics data according to Qiagen and/or SABiosciences)
About This Section

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the ITGA2B gene promoter:
         NF-kappaB1   ATF   FOXJ2 (long isoform)   ARP-1   LCR-F1   FOXF2   PPAR-gamma1   NF-kappaB   PPAR-gamma2   RP58
         Other transcription factors

Search SABiosciences Chromatin IP Primers for ITGA2B

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays

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 gene densities for chromosome 17 GeneLoc Exon Structure

GeneLoc location for GC17M038213: view genomic region (about GC identifiers)

Start:	38,213,453 bp from pter
End:	38,230,761 bp from pter
Size:	17,309 bases
Orientation:	minus strand

1 alternative location:

Chr17- 42,449,550-42,466,873

RefSeq DNA sequence:

NC_000017.10 NT_010783.15

(According to ¹UniProtKB, neXtProt, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Millipore, Sigma-Aldrich, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, and/or ProSpec,
Biochemical Assays by Millipore, Sigma-Aldrich, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Dec 2010 and Entrez Gene, Antibodies by Millipore, Sigma-Aldrich, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, and/or Epitomics)
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 an 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

PDB structures from and Proteopedia :

1DPK (3D)

1DPQ (3D)

1JX5 (3D)

1KUP (3D)

1KUZ (3D)

1M8O (3D)

1RN0 (3D)

1S4W (3D)

1TYE (3D)

1UV9 (3D)

2K1A (3D)

2K9J (3D)

2KNC (3D)

2VC2 (3D)

2VDK (3D)

2VDL (3D)

2VDM (3D)

2VDN (3D)

2VDO (3D)

2VDP (3D)

2VDQ (3D)

2VDR (3D)

3FCS (3D)

3FCU (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 phosphorylation sites using PhosphoSite²

REFSEQ proteins: NP_000410.2

ENSEMBL proteins:

ENSP00000262407 ENSP00000340536 ENSP00000366268

Human Recombinant Proteins

	Browse Purified and Recombinant Proteins at Millipore
	Browse Human Recombinant Proteins at Sigma-Aldrich
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Browse OriGene full length recombinant human proteins expressed in human HEK293 cells OriGene Protein Over-expression Lysate: ITGA2B
	GenScript Custom Purified and Recombinant Proteins Services for ITGA2B
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins

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

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	--

About this table

ITGA2B for ontologies About GeneDecksing

Antibodies for ITGA2B:

	Millipore Mono- and Polyclonal Antibodies for the study of ITGA2B
	Sigma-Aldrich Antibodies for ITGA2B
	R&D Systems Antibodies for ITGA2B (Integrin alpha 2b/CD41)
	Browse OriGene Antibodies
	GenScript Custom Superior Antibodies Services for ITGA2B
	Novus Biologicals Antibodies for ITGA2B
	Epitomics antibodies for ITGA2B

Assays for ITGA2B:

	Browse Kits and Assays available from Millipore
	Browse ELISAs at Sigma-Aldrich
	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
	Browse ELISAs and CLIAs at Uscn

(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 UniProtKB, IUBMB,and/or Genatlas, Animal models from MGI Dec 24 2010,
shRNA from OriGene, Sigma-Aldrich, RNAi from Millipore, siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich, microRNA from Sigma-Aldrich, Qiagen, SABiosciences, Clones from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, Cell Lines from GenScript, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene.)
About This Section

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

Inhib. RNA:		Browse for Gene Knock-down Tools from Millipore
		Browse Nano Scale siRNA at Sigma-Aldrich Sigma-Aldrich siRNA Panels and siRNA for ITGA2B Sigma-Aldrich shRNA Panels and shRNA for ITGA2B
		OriGene 29mer shRNA kits in GFP-retroviral vector: ITGA2B OriGene shRNA RFP: ITGA2B OriGene basic RS shRNA: ITGA2B OriGene siRNA: ITGA2B
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of ITGA2B

miRNA:		Sigma-Aldrich microRNA Mimics for ITGA2B Sigma-Aldrich microRNA target validation systems for ITGA2B
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of ITGA2B
		Search SABiosciences for Assays for microRNAs that regulate ITGA2B

Gene
Editing:

Browse CompoZr Knockout ZFN at Sigma-Aldrich

Clones:		Browse Clones for the Expression of Recombinant Proteins Available from Millipore
		Browse iPSC Reprogramming Factors at Sigma-Aldrich
		OriGene GFP tagged cDNA clones in CMV expression vector: ITGA2B OriGene Myc/DDK tagged cDNA clones in CMV expression vector: ITGA2B OriGene untagged cDNA clones in CMV expression vector: ITGA2B OriGene 3'-UTR clone: ITGA2B Browse MicroRNA Expression Plasmids
		GenScript Custom cDNA clone Services for ITGA2B
		Browse Sino Biological Human cDNA Clones

Cell
Lines:

GenScript Custom overexpressing Cell Line Services for ITGA2B

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

3 Gene Ontology (GO) molecular function terms (GO ID links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004872	receptor activity	IEA	--
GO:0042802	identical protein binding	IPI	14681217
GO:0050840	extracellular matrix binding	IEA	--

About this table

ITGA2B for ontologies About GeneDecksing

Animal Models: 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

(Pathways according to Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB, Sets of similar genes according to GeneDecks, PCR Arrays from SABiosciences, Proteins Network according to SABiosciences, Sigma-Aldrich, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene).
About This Section

ITGA2B for pathways About GeneDecksing

1 Millipore Pathway for ITGA2B

Cell adhesion Integrin inside-out signaling

3 Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Pathways for ITGA2B

	P2Y Purigenic Receptor Signaling Pathway
	Integrin Signaling
	Caveolar-mediated Endocytosis Signaling

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

	hsa04510 Focal adhesion
	hsa04512 ECM-receptor interaction
	hsa04640 Hematopoietic cell lineage
	hsa04810 Regulation of actin cytoskeleton
	hsa05200 Pathways in cancer

SABiosciences Custom Pathway-Focused PCR Arrays for ITGA2B

Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Molecular Interaction Network for ITGA2B

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

2 Interacting proteins for ITGA2B (P08514^{1, 2}) via UniProtKB, MINT, and/or STRING

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
ITGA2B	P08514¹	EBI-702693,EBI-702693
ITGB3	P05106²	MINT-7261298 MINT-7261237 MINT-7261175 MINT-7261217 MINT-7261198 MINT-7261279 MINT-7261157 MINT-7261259

About this table

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

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

About this table

ITGA2B for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

ITGA2B for compounds About GeneDecksing

Sigma-Aldrich Small Molecules for ITGA2B:

Small Molecule - Antagonist

Browse drugs & compounds from Enzo Life Sciences

Compounds for ITGA2B available from Tocris Bioscience

Compound	Action	CAS number
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]

About this table

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

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)

About this table

2 PharmGKB drug compound relationships for ITGA2B gene

Drug compound	PharmGKB Relations	PubMed IDs for articles supporting these relationships
abciximab	FA GN	20169140
aspirin	FA GN	20169140

About this table

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 228 Homo sapiens; Dec 8 2010) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Millipore,
siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene, microRNA from Sigma-Aldrich, Qiagen, SABiosciences,
Tagged/untagged cDNA clones from OriGene, Sigma-Aldrich, GenScript, Primers from OriGene and/or SABiosciences)
About This Section

Inhib. RNA:		Browse for Gene Knock-down Tools from Millipore
		Browse Nano Scale siRNA at Sigma-Aldrich Sigma-Aldrich siRNA Panels and siRNA for ITGA2B Sigma-Aldrich shRNA Panels and shRNA for ITGA2B
		OriGene 29mer shRNA kits in GFP-retroviral vector: ITGA2B OriGene shRNA RFP: ITGA2B OriGene basic RS shRNA: ITGA2B OriGene siRNA: ITGA2B
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of ITGA2B

miRNA:		Sigma-Aldrich microRNA Mimics for ITGA2B Sigma-Aldrich microRNA target validation systems for ITGA2B
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of ITGA2B
		Search SABiosciences for Assays for microRNAs that regulate ITGA2B

Clones:		Browse FLAG tag genes at Sigma-Aldrich
		OriGene GFP tagged cDNA clones in CMV expression vector: ITGA2B OriGene Myc/DDK tagged cDNA clones in CMV expression vector: ITGA2B OriGene untagged cDNA clones in CMV expression vector: ITGA2B OriGene 3'-UTR Clone: ITGA2B Browse OriGene MicroRNA Expression Plasmids
		GenScript Custom cDNA clone Services for ITGA2B

Primers:		OriGene genome-wide validated SYBR primer pairs: ITGA2B Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay for ITGA2B: PPH00670A

REFSEQ mRNAs for ITGA2B gene:

NM_000419.3

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):

AF098114 NM_000419 BM920426 AW204899 BF513348 BC030200 J02764 BI821446

BM145891 BQ068277 CA433534 BX281671 BX116497 R28994 BE018845 M18085

BX395469 BM926475 AL048974 BC029298 BI522882 BX418629 AW997241 CB854857

highest scoring ESTs for ITGA2B:

M34480 AA442793 BE241740 BM148153 J02764 AA905458 AF098114 AI161182 AI660200 AL048974

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

GeneLoc Exon Structure

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

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:

About this scheme

ECgene alternative splicing isoforms for ITGA2B
3 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000262407(uc002igt.1 uc002igu.1) ENST00000353281 ENST00000377068

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 228 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Primers from OriGene and/or SABiosciences )
About This Section

ITGA2B expression in normal and diseased human tissues

¹ / ² / ³

10 probe-sets matching ITGA2B gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
40644_g_at²^{, 3}	U95-A	1	1.00	1.00	0.95	0.88	M34480	1.00	1.00	1.00	1
40643_at²^{, 3}	U95-A	1	1.00	1.00	0.95	1.12	M34480	1.00	1.00	1.00	1
206494_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	NM_000419	0.60	1.00	0.82	1
206493_at²^{, 3}	U133-A	1	1.00	1.00	--	--	NM_000419	0.60	1.00	0.82	1
216956_s_at²^{, 3}	U133-A	1	0.91	1.00	--	--	AF098114	0.60	1.00	0.82	1
216966_at*²	U133-A	18	0.73	0.06	--	--	--	--	--	--	--
206494_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
206493_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
216956_s_at²	U133Plus2	1	0.91	1.00	--	--	--	--	--	--	--
216966_at*²	U133Plus2	18	0.73	0.06	--	--	--	--	--	--	--

About this table

ITGA2B for expression About GeneDecksing

Data from Genenote (Publications) and GNF BioGPS
About these images

ITGA2B gene electronic northern expression

About these images

CGAP SAGE TAG: TGGAAGGTCG

SOURCE GeneReport for Unigene cluster: Hs.411312

Expression variation in blood from EXPOLDB for ITGA2B

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 U937 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

Primers:		OriGene genome-wide validated SYBR primer pairs: ITGA2B Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay for ITGA2B: PPH00670A

SABiosciences Custom PCR Arrays for ITGA2B

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Dec 24 2010, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for ITGA2B gene from 5/7 species (see all 7)

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	ITGA2B¹	--	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa more	86.07(n) 83.3(a)	403789 NM_001003163.1 NP_001003163.1
chimpanzee (Pan troglodytes)	ITGA2B¹	--	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa more	99.49(n) 99.42(a)	454730 XM_001150497.1 XP_001150497.1
cow (Bos taurus)	ITGA2B¹	--	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa more	76.95(n) 70.1(a)	515011 NM_001014929.1 NP_001014929.1
rat (Rattus norvegicus)	LOC685269¹	--	similar to Integrin alpha-IIb precursor (Platelet membrane more	81.74(n) 78.65(a)	685269 XM_001063315.1 XP_001063315.1
mouse (Mus musculus)	Itga2b^{1 , 5}	11 (66.29 cM)⁵	integrin alpha 2b^{1, 5}	82.41(n)¹ 80.76(a)¹	16399¹ NM_010575.1¹ NP_034705.1¹ AF045019⁵ AF166384⁵ (see all 21)

About this table Species with no ortholog for ITGA2B

ENSEMBL Gene Tree for ITGA2B (if available)

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

Paralogs for ITGA2B gene

ITGA8² ITGAV² ITGA3² ITGA9² ITGA4² ITGA5²

ITGA2B for paralogs About GeneDecksing

(SNPs according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Resequencing Primers from Qiagen)
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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	Chr 17 pos	Sequence	Recs	AA Chg	Type	More	Recs	Allele freq	Pop	Total sample	More
Genomic Data				Transcription Related Data				Allele Frequencies
			--	--	--		--	--
rs5910^1,2	C,F,A,	42449789(-)	`CAGGTC/TGGCTT`	2	V	ref¹ syn¹		19		MN NA NS EA WA	1292
rs5911^1,2	C,F,A,	42453065(+)	`TGGGGA/CTGGGC`	2	S I	mis¹ ref¹ ese³		11		MN EA NS NA WA	2082
rs5912^1,2	C,F,	42457120(-)	`CTACCG/ACCCAC`	2	/P	syn¹ ref¹ ese³		9		MN NS EA NA	850
rs5913^1,2	F	42452054(-)	`CCCCCG/ACTCAG`	2	/P	syn¹ ref¹ ese³		2		MN	296
rs5914^1,2	F	42452068(-)	`TCCCCT/AATGCG`	2	/N /Y	mis¹ ref¹ ese³ trp³		2		MN	296
rs5915^1,2	C,F	42466723(-)	`GCTCAC/TCTTCT`	2	T I	ref¹ mis¹ ese³		11		MN NS EA	1296
rs5916^1,2	F	42453237(-)	`GGCCTT/CCAGTG`	2	/L	syn¹ ref¹ ese³		2		MN	296
rs25552^1,2	C	42455032(-)	`CTCCA-/CCA GGGGCTCATGA`	1	--	int¹		1		NA	2
rs732246^1,2	--	42454282(-)	`CTTTCA/GAGGCC`	1	--	int¹		0	--	--	--	--
rs850727^1,2	C,A,H,	42464915(-)	`tgcccG/AgACtt`	1	--	int¹		5		NA	10

About this table

HapMap Linkage Disequilibrium images for ITGA2B (up to first 250kb)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for ITGA2B: --

QIAGEN SeqTarget long-range PCR primers for resequencing ITGA2B

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, LSDB, HGMD, GAD, HuGE Navigator, and/or TGDB.)
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ITGA2B for disorders About GeneDecksing

OMIM: 607759

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

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

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)

About this table

Genatlas disease: ITGA2B

Glanzmann thrombasthenia (GpIIb-GpIIIa complex deficiency)

Locus Specific Mutation Databases (LSDB): ITGA2B
Human Gene Mutation Database (HGMD): ITGA2B
Genetic Association Database (GAD): ITGA2B
Human Genome Epidemiology (HuGE) Navigator: ITGA2B (63 documents)

Export disorders and mutations for ITGA2B gene to outside databases

(Possibly Related Articles in Doctor's Guide)
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(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶UniProtKB/TrEMBL, and/or ⁷Novoseek)
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10/475 PubMed articles for ITGA2B gene, integrated from 7 sources (see all 475):
(articles sorted by number of sources associating them with ITGA2B)

Double heterozygosity of the GPIIb gene in a Swiss patient with Glanzmann's thrombasthenia. (PubMed id 9734640)^{1, 2, 7} 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, 7} 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, 7} Poncz M.... Bennett J.S. (1994)
GPIIb and GPIIIa amino acid sequences deduced from human megakaryocyte cDNAs. (PubMed id 2345548)^{1, 2, 7} 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, 7} Gonzalez-Manchon C.... Parrilla R. (1999)
Polymorphism of human platelet membrane glycoprotein IIb associated with the Baka/Bakb alloantigen system. (PubMed id 2350579)^{1, 2, 7} Lyman S.... Newman P.J. (1990)
Human platelets and megakaryocytes contain alternately spliced glycoprotein IIb mRNAs. (PubMed id 2351656)^{1, 2, 7} Bray P.F.... Shuman M.A. (1990)
Organization of the gene for platelet glycoprotein IIb. (PubMed id 2322558)^{1, 2, 7} 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, 7} 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, 7} Vinciguerra C....Negrier C. (2001)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
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Free Text

Query String		PubMed OMIM NCBI Bookshelf
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 3674	HGNC: 6138	AceView: ITGA2B	Ensembl:ENSG00000005961	euGenes: HUgn3674
ECgene: ITGA2B	Kegg: 3674	H-InvDB: ITGA2B

(According to HUGE)
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(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
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
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Patent Information for ITGA2B gene:
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GeneCards and IP:
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ITGA2B Gene

protein-coding GIFtS: 68

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ITGA2B Gene

protein-coding GIFtS: 68

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