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ITGA2B Gene

protein-coding GIFtS: 71

GC17M039805

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)

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

Aliases
CD41 ^¹, ²
CD41B ^¹, ², ⁵
GP2B ^², ³, ⁵
GPIIb ^², ³
GTA ^²
HPA3 ^²
ITGAB ^³

Descriptions
CD41 antigen ^³
GPalpha IIb ^³
Platelet membrane glycoprotein IIb ^³
integrin alpha 2b ^²
integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41) ^²
integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41B) ^¹
platelet fibrinogen receptor, alpha subunit ^²
platelet-specific antigen BAK ^²

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

Search outside databases for aliases for ITGA2B gene

Previous GC identifers: GC17M042191 GC17M044626 GC17M042460 GC17M042924

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

EntrezGene 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

Gene Wiki entry for ITGA2B

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the ITGA2B gene

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)

GeneLoc gene densities for chromosome 17 GeneLoc Exon Structure

GeneLoc location for GC17M039805: (about GC identifiers)

Start:	39,805,076 bp from pter
End:	39,822,399 bp from pter
Size:	17,324 bases
Orientation:	minus strand

RefSeq DNA sequence:

NC_000017.9 NT_010783.14

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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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)

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

Post-translational modifications:

View phosphorylation sites using PhosphoSite²

REFSEQ proteins: NP_000410.2

ENSEMBL proteins:

ENSP00000366268 ENSP00000262407 ENSP00000340536

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for 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
	Recombinant Proteins from Abcam (CD41/Integrin alpha 2b, Integrin alpha 2b + beta 3)
	Browse Abnova for Human Recombinant Proteins

Browse Origene for full length recombinant human proteins expressed in human HEK293 cells

3 Gene Ontology (GO) cellular component terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005886	plasma membrane	EXP	3607284 10605720
GO:0008305	integrin complex	IEA	--
GO:0031092	platelet alpha granule membrane	EXP	3607284

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Antibodies for ITGA2B:

	Invitrogen 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)
	Antibodies from Abcam (CD41/Integrin alpha 2b, Integrin alpha 2b + beta 3), each with their Abpromise^SM
	Monoclonal and Polyclonal Antibodies from Abnova (ITGA2B)
	Novus Biologicals Antibodies for ITGA2B

Assays for ITGA2B:

	Browse Invitrogen for biochemical assays
	Browse Kits and Assays available from Millipore
	Browse R&D Systems for biochemical assays
	Browse biochemical assays available from Enzo Life Sciences

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

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 MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (ITGA2B)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (ITGA2B)

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000419

Applied Biosystems Silencer® siRNAs for ITGA2B

Sigma-Aldrich siRNA and siRNA Panels for ITGA2B

Sigma-Aldrich shRNA Panels and shRNA for ITGA2B

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Browse Clone Ranger at Invitrogen for clones
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clone in CMV expression vector: NM_000419
Myc/DDK tagged cDNA clone in CMV expression vector: NM_000419
untagged cDNA clone in CMV expression vector: NM_000419

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_000419

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

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

hematopoietic system

homeostasis/metabolism

reproductive system

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004872	receptor activity	IEA	--
GO:0005509	calcium ion binding	IEA	--
GO:0042802	identical protein binding	IPI	11606749

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(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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2 Sigma-Aldrich "Your Favorite Gene" Pathways for ITGA2B (Your Favorite Gene powered by Ingenuity)

Caveolar-mediated Endocytosis
Integrin Signaling

GeneDecks ITGA2B for the pathways selected above

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

1 Interacting protein for ITGA2B (P08514¹) via UniProtKB, MINT, and/or STRING
Interactant Interaction Details
GeneCard External ID(s)
ITGA2B P08514¹ EBI-702693, EBI-702693
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2 Gene Ontology (GO) biological process terms (links to tree view):
GO ID Qualified GO term Evidence PubMed IDs
GO:0007155 cell adhesion TAS 2439501 10429193
GO:0007229 integrin-mediated signaling pathway IEA --
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(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

Browse drugs & compounds from Enzo Life Sciences

Sigma-Aldrich Small Molecules for ITGA2B:

Antagonist

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]

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7 Novoseek chemical compound relationships for ITGA2B gene

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
fibrinogen	74.94	41	8191392 (4), 7566578 (3), 1705115 (2), 9227689 (2) (see all 28)
adp	56.16	9	16769603 (1), 7794942 (1), 17869981 (1)
12-o-tetradecanoylphorbol 13-acetate	31.23	3	1893970 (2), 1779468 (1)
isoleucine	6.61	1	2350579 (1)
cytosine	1.58	2	15886807 (1), 11091187 (1)
lysine	0.00	2	1744141 (1), 11122161 (1)
calcium	0.00	15	8916916 (4), 2039481 (2), 16431050 (1), 7508443 (1) (see all 7)

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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

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(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
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 Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (ITGA2B)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (ITGA2B)

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000419

Sigma-Aldrich siRNA and siRNA Panels for ITGA2B

Sigma-Aldrich shRNA Panels and shRNA for ITGA2B

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_000419

REFSEQ mRNAs for ITGA2B gene:

NM_000419.3

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_000419

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_000419
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_000419
                                 untagged cDNA clone in CMV expression vector: NM_000419

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 BC030200 BI821446 BX281671 BM920426 NM_000419 M18085

BE018845 R28994 CA433534 AF098114 J02764 BF513348 BX116497 BQ068277

BM148153 BX331871 BI913364 BI522674 BE302405 BM561827 BI909264 AW997241

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:

ENST00000377068 ENST00000262407 ENST00000353281

(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 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
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ITGA2B expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for ITGA2B

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	2	1.00	0.94	0.95	1.12	M34480	1.00	1.00	1.00	1
216956_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	AF098114	0.60	1.00	0.82	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
216966_at*²	U133-A	2	1.00	0.50	--	--	--	--	--	--	--
216956_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
206494_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
206493_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
216966_at*²	U133Plus2	2	1.00	0.50	--	--	--	--	--	--	--

GeneDecks ITGA2B for binary patterns associated with the probe-sets selected above

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Data from

(Publications) and GNF BioGPS
About these images
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

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
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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 (68.00 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 22)

About this table Species with no ortholog for ITGA2B

ENSEMBL Gene Tree for ITGA2B

(Paralogs according to ¹HomoloGene
and ²Ensembl, Pseudogenes according to ³Pseudogene.org)
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Paralogs for ITGA2B gene

ITGA8² ITGAV² ITGA5²

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
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)

10/96 NCBI SNPs in ITGA2B are shown (see all 96 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 44)

AB	SNP ID	Valid	Chr 17 pos	Sequence	Recs	AA Chg	Type	More	Recs	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--			--
	rs5911^1,2	A,C,F,H	39808591(+)	`TGGGGA/CTGGGC`	1	I/S	mis¹ ese³		7	MN EA EU WA NA	2074
	rs8070273^1,2	A,C,F,H	39823096(+)	`TCCAGG/CGAATT`	1	--	ng3¹		5	EU EA WA NA	506
	rs7207402^1,2	C,F,H	39811538(+)	`TCACAC/AGCTGG`	1	L/V	mis¹		8	EU EA WA	826
	rs5915^1,2	C,F,H	39822249(-)	`GCTCAC/TCTTCT`	1	T/I	mis¹ ese³		10	MN EU EA WA	1116
	rs7220086^1,2	F,H	39823637(+)	`TTTTCT/CGATCA`	1	--	ng3¹		4	EU EA WA	418
	rs3760364^1,2	C,H	39823330(-)	`AAGGGA/TCTCAT`	1	--	ng3¹ tfbs³		4	EU EA WA	404
	rs5914^1,2	F	39807594(-)	`TCCCCT/AATGCG`	1	N/Y	mis¹ ese³ trp³		2	MN	296
	rs3760363^1,2	H	39823512(-)	`CTTCCG/ACTTAC`	1	--	ng3¹		4	EU EA WA	408
	rs35531721^1,2	C	39805042(+)	`CTCTTC/TTCTGG`	1	--	ng5¹		1	NA	48
	rs5910^1,2	A,C,F,H	39805315(-)	`CAGGTC/TGGCTT`	1	V/V	syn¹		13	MN NA EU EA WA	1076

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HapMap Linkage Disequilibrium images for ITGA2B (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
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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. This autosomal recessive disorder is the most common

inherited disease of platelets. GT is 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	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
glanzmann thrombasthenia	94.03	27	1967954 (3), 1635160 (1), 7794942 (1), 16793673 (1) (see all 23)
bernard-soulier syndrome	67.79	1	8457642 (1)
posttransfusion purpura	64.45	1	15678278 (1)
platelet disorder	62.08	1	16793673 (1)
thrombocytopenia	53.26	4	12724616 (1), 15678278 (1), 15157339 (1), 2301979 (1)
erythroleukemia	50.48	2	2351656 (1), 10575637 (1)
coagulopathy	50.16	2	1967954 (1), 9695977 (1)
purpura thrombocytopenic	41.41	1	7605170 (1)
autoimmune thrombocytopenia	40.92	1	15678278 (1)
leukemia	23.96	2	8750618 (1), 7539513 (1)

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Genatlas disease: ITGA2B

Glanzmann thrombasthenia (GpIIb-GpIIIa complex deficiency)

Human Gene Mutation Database: ITGA2B
Genetic Association Database: ITGA2B
Human Genome Epidemiology Navigator: ITGA2B (53 documents)

(Possibly Related Articles in Doctor's Guide)
About This Section

(in PubMed. Associations of this gene to articles via ¹Novoseek, ²HGNC, ³Entrez Gene, ⁴UniProtKB/Swiss-Prot, ⁵UniProtKB/TrEMBL, ⁶GAD, and/or ⁷PharmGKB)
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10/425 PubMed articles for ITGA2B gene (see all 425 ):

Double heterozygosity of the GPIIb gene in a Swiss patient with Glanzmann's thrombasthenia. (PubMed id 9734640)^{1, 3, 4} 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, 3, 4} 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, 3, 4} Poncz M.... Bennett J.S. (1994)
GPIIb and GPIIIa amino acid sequences deduced from human megakaryocyte cDNAs. (PubMed id 2345548)^{1, 3, 4} 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, 3, 4} Gonzalez-Manchon C.... Parrilla R. (1999)
Polymorphism of human platelet membrane glycoprotein IIb associated with the Baka/Bakb alloantigen system. (PubMed id 2350579)^{1, 3, 4} Lyman S.... Newman P.J. (1990)
Human platelets and megakaryocytes contain alternately spliced glycoprotein IIb mRNAs. (PubMed id 2351656)^{1, 3, 4} Bray P.F.... Shuman M.A. (1990)
Organization of the gene for platelet glycoprotein IIb. (PubMed id 2322558)^{1, 3, 4} 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, 3, 6} Park S....Jang Y. (2004)
Description of 10 new mutations in platelet glycoprotein IIb (alphaIIb) and glycoprotein IIIa (beta3) genes. (PubMed id 11798398)^{1, 3, 4} Vinciguerra C....Negrier C. (2001)

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

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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
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Entrez Gene: 3674	HGNC: 6138	AceView: ITGA2B	Ensembl:ENSG00000005961	euGenes: HUgn3674
ECgene: ITGA2B	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.genetests.org/query?gene=ITGA2B

Licensable Technologies for ITGA2B
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(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
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Enzo Life Sciences, and/or Tocris Bioscience)
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Products for ITGA2B:

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ITGA2B Gene

protein-coding GIFtS: 71

Aliases &
Descriptions
for ITGA2B

Summaries
for ITGA2B

Genomic Location
for ITGA2B

Proteins
for ITGA2B

Protein Domains/
Families
for ITGA2B

Gene Function
for ITGA2B

Pathways & Interactions
for ITGA2B

Drugs & Compounds
for ITGA2B

Transcripts
for ITGA2B

Expression
for ITGA2B

Orthologs
for ITGA2B

Paralogs
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SNPs/Variants
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Disorders & Mutations
for ITGA2B

Medical News
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Publications
for ITGA2B

Search for ITGA2B

Genome Databases showing ITGA2B

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Licensable Technologies
for ITGA2B

Services
for ITGA2B

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

ITGA2B Gene

protein-coding GIFtS: 71

Aliases & Descriptionsfor ITGA2B

Summariesfor ITGA2B

Genomic Locationfor ITGA2B

Proteinsfor ITGA2B

Protein Domains/Familiesfor ITGA2B

Gene Functionfor ITGA2B

Pathways & Interactionsfor ITGA2B

Drugs & Compoundsfor ITGA2B

Transcriptsfor ITGA2B

Expression for ITGA2B

Orthologsfor ITGA2B

Paralogsfor ITGA2B

SNPs/Variantsfor ITGA2B

Disorders & Mutationsfor ITGA2B

Medical Newsfor ITGA2B

Publicationsfor ITGA2B

Search for ITGA2B

Genome Databases showing ITGA2B

Other Databases showing ITGA2B

Specialized Databases showing ITGA2B

Licensable Technologiesfor ITGA2B

Servicesfor ITGA2B

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for ITGA2B

Summaries
for ITGA2B

Genomic Location
for ITGA2B

Proteins
for ITGA2B

Protein Domains/
Families
for ITGA2B

Gene Function
for ITGA2B

Pathways & Interactions
for ITGA2B

Drugs & Compounds
for ITGA2B

Transcripts
for ITGA2B

Expression
for ITGA2B

Orthologs
for ITGA2B

Paralogs
for ITGA2B

SNPs/Variants
for ITGA2B

Disorders & Mutations
for ITGA2B

Medical News
for ITGA2B

Publications
for ITGA2B

Licensable Technologies
for ITGA2B

Services
for ITGA2B