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Aliases for ITGA2B Gene

Aliases for ITGA2B Gene

  • Integrin Subunit Alpha 2b 2 3 5
  • Integrin, Alpha 2b (Platelet Glycoprotein IIb Of IIb/IIIa Complex, Antigen CD41) 2 3
  • Platelet Glycoprotein IIb Of IIb/IIIa Complex 2 3
  • Platelet Membrane Glycoprotein IIb 3 4
  • GPalpha IIb 3 4
  • GPIIb 3 4
  • GP2B 3 4
  • Integrin, Alpha 2b (Platelet Glycoprotein IIb Of IIb/IIIa Complex, Antigen CD41B) 2
  • Protein Phosphatase 1, Regulatory Subunit 93 3
  • Platelet Fibrinogen Receptor, Alpha Subunit 3
  • Platelet-Specific Antigen BAK 3
  • Protein Phosphatase 1 2
  • Regulatory Subunit 93 2
  • AlphaIIb Protein 3
  • CD41 Antigen 4
  • BDPLT16 3
  • PPP1R93 3
  • BDPLT2 3
  • CD41B 3
  • ITGAB 4
  • CD41 3
  • HPA3 3
  • GTA 3
  • GT 3

External Ids for ITGA2B Gene

Previous HGNC Symbols for ITGA2B Gene

  • GP2B

Previous GeneCards Identifiers for ITGA2B Gene

  • GC17M042191
  • GC17M044626
  • GC17M042460
  • GC17M042924
  • GC17M039805
  • GC17M038213

Summaries for ITGA2B Gene

Entrez Gene Summary for ITGA2B Gene

  • This gene encodes a member of the integrin alpha chain family of proteins. The encoded preproprotein is proteolytically processed to generate light and heavy chains that associate through disulfide linkages to form a subunit of the alpha-IIb/beta-3 integrin cell adhesion receptor. This receptor plays a crucial role in the blood coagulation system, by mediating platelet aggregation. Mutations in this gene are associated with platelet-type bleeding disorders, which are characterized by a failure of platelet aggregation, including Glanzmann thrombasthenia. [provided by RefSeq, Jan 2016]

GeneCards Summary for ITGA2B Gene

ITGA2B (Integrin Subunit Alpha 2b) is a Protein Coding gene. Diseases associated with ITGA2B include glanzmann thrombasthenia and bleeding disorder, platelet-type, 16, autosomal dominant. Among its related pathways are Platelet activation, signaling and aggregation and Sertoli-Sertoli Cell Junction Dynamics. GO annotations related to this gene include identical protein binding and fibrinogen binding. An important paralog of this gene is ITGA8.

UniProtKB/Swiss-Prot for ITGA2B Gene

  • 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.

Tocris Summary for ITGA2B Gene

  • Integrins are ubiquitously expressed adhesion molecules. They are cell-surface receptors that exist as heterodimers of alpha and beta subunits. Under physiological conditions, integrins are highly glycosylated and contain a Ca2+ or Mg2+ ion, which is essential for ligand binding.

Gene Wiki entry for ITGA2B Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ITGA2B Gene

Genomics for ITGA2B Gene

Regulatory Elements for ITGA2B Gene

Transcription factor binding sites by QIAGEN in the ITGA2B gene promoter:

Genomic Location for ITGA2B Gene

Chromosome:
17
Start:
44,372,180 bp from pter
End:
44,389,505 bp from pter
Size:
17,326 bases
Orientation:
Minus strand

Genomic View for ITGA2B Gene

Genes around ITGA2B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ITGA2B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ITGA2B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ITGA2B Gene

Proteins for ITGA2B Gene

  • Protein details for ITGA2B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P08514-ITA2B_HUMAN
    Recommended name:
    Integrin alpha-IIb
    Protein Accession:
    P08514
    Secondary Accessions:
    • B2RCY8
    • O95366
    • Q14443
    • Q17R67

    Protein attributes for ITGA2B Gene

    Size:
    1039 amino acids
    Molecular mass:
    113377 Da
    Quaternary structure:
    • 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. Interacts (via C-terminus cytoplasmic tail region) with CIB1; the interaction is direct and calcium-dependent. Interacts (via C-terminus cytoplasmic tail region) with CIB2, CIB3 and CIB4; the interactions are stabilized/increased in a calcium and magnesium-dependent manner.

    Three dimensional structures from OCA and Proteopedia for ITGA2B Gene

    Alternative splice isoforms for ITGA2B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ITGA2B Gene

Proteomics data for ITGA2B Gene at MOPED

Post-translational modifications for ITGA2B Gene

  • Glycosylation at Asn 46, Asn 280, Asn 601, Asn 711, Ile 874, Ser 878, and Asn 962
  • Modification sites at PhosphoSitePlus

Other Protein References for ITGA2B Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • R&D Systems Antibodies for ITGA2B (Integrin alpha 2b/CD41)
  • Cell Signaling Technology (CST) Antibodies for ITGA2B (ITGA2B)

No data available for DME Specific Peptides for ITGA2B Gene

Domains & Families for ITGA2B Gene

Graphical View of Domain Structure for InterPro Entry

P08514

UniProtKB/Swiss-Prot:

ITA2B_HUMAN :
  • Belongs to the integrin alpha chain family.
  • Contains 7 FG-GAP repeats.
Family:
  • Belongs to the integrin alpha chain family.
Similarity:
  • Contains 7 FG-GAP repeats.
genes like me logo Genes that share domains with ITGA2B: view

Function for ITGA2B Gene

Molecular function for ITGA2B Gene

GENATLAS Biochemistry:
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
UniProtKB/Swiss-Prot 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.
genes like me logo Genes that share phenotypes with ITGA2B: view

Human Phenotype Ontology for ITGA2B Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ITGA2B Gene

MGI Knock Outs for ITGA2B:

Animal Model Products

Inhibitory RNA Products

Clone Products

  • R&D Systems cDNA Clones for ITGA2B (Integrin alpha 2b/CD41)

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , miRNA , Transcription Factor Targets and HOMER Transcription for ITGA2B Gene

Localization for ITGA2B Gene

Subcellular locations from UniProtKB/Swiss-Prot for ITGA2B Gene

Membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ITGA2B Gene COMPARTMENTS Subcellular localization image for ITGA2B gene
Compartment Confidence
extracellular 5
plasma membrane 5
cytosol 3
nucleus 3
cytoskeleton 2
endoplasmic reticulum 2
lysosome 2
vacuole 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for ITGA2B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005887 integral component of plasma membrane TAS 2439501
GO:0072562 blood microparticle IDA 22516433
genes like me logo Genes that share ontologies with ITGA2B: view

Pathways & Interactions for ITGA2B Gene

SuperPathways for ITGA2B Gene

Superpath Contained pathways
1 Interleukin-3, 5 and GM-CSF signaling
2 Apoptotic Pathways in Synovial Fibroblasts
3 Integrin Pathway
4 Platelet activation, signaling and aggregation
5 ERK Signaling
genes like me logo Genes that share pathways with ITGA2B: view

Gene Ontology (GO) - Biological Process for ITGA2B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002687 positive regulation of leukocyte migration IEA --
GO:0007155 cell adhesion TAS 2439501
GO:0007160 cell-matrix adhesion IEA --
GO:0007229 integrin-mediated signaling pathway IDA 23382103
genes like me logo Genes that share ontologies with ITGA2B: view

No data available for SIGNOR curated interactions for ITGA2B Gene

Drugs & Compounds for ITGA2B Gene

(15) Drugs for ITGA2B Gene - From: DGIdb, Novoseek, DrugBank, Tocris, ApexBio, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Tirofiban Approved Pharma antagonist, Target 33
Abciximab Approved Pharma antagonist, Target 64
Eptifibatide Approved, Investigational Pharma antagonist 29
Lefradafiban Investigational Pharma Target 0
GANTOFIBAN Pharma 0

(7) Additional Compounds for ITGA2B Gene - From: Novoseek and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Echistatin, alpha1 isoform
154303-05-6
GR 144053 trihydrochloride
1215333-48-4
Leukadherin 1
344897-95-6
genes like me logo Genes that share compounds with ITGA2B: view

Transcripts for ITGA2B Gene

Unigene Clusters for ITGA2B Gene

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

Inhibitory RNA Products

Clone Products

  • R&D Systems cDNA Clones for ITGA2B (Integrin alpha 2b/CD41)

Flow Cytometry Products

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

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:

Relevant External Links for ITGA2B Gene

GeneLoc Exon Structure for
ITGA2B
ECgene alternative splicing isoforms for
ITGA2B

Expression for ITGA2B Gene

mRNA expression in normal human tissues for ITGA2B Gene

mRNA differential expression in normal tissues according to GTEx for ITGA2B Gene

This gene is overexpressed in Whole Blood (x28.3).

Protein differential expression in normal tissues from HIPED for ITGA2B Gene

This gene is overexpressed in Platelet (40.6), Peripheral blood mononuclear cells (14.6), and Neutrophil (8.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for ITGA2B Gene



SOURCE GeneReport for Unigene cluster for ITGA2B Gene Hs.411312

mRNA Expression by UniProt/SwissProt for ITGA2B Gene

P08514-ITA2B_HUMAN
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.
genes like me logo Genes that share expression patterns with ITGA2B: view

Protein tissue co-expression partners for ITGA2B Gene

Primer Products

In Situ Assay Products

Orthologs for ITGA2B Gene

This gene was present in the common ancestor of animals.

Orthologs for ITGA2B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ITGA2B 35
  • 99.49 (n)
  • 99.42 (a)
ITGA2B 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ITGA2B 35
  • 84.72 (n)
  • 80.04 (a)
ITGA2B 36
  • 81 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ITGA2B 36
  • 79 (a)
OneToOne
ITGA2B 35
  • 86.08 (n)
  • 83.4 (a)
mouse
(Mus musculus)
Mammalia Itga2b 16
Itga2b 35
  • 82.47 (n)
  • 81.05 (a)
Itga2b 36
  • 81 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ITGA2B 36
  • 65 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 24 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia Itga2b 35
  • 81.8 (n)
  • 78.65 (a)
chicken
(Gallus gallus)
Aves ITGA2B 36
  • 55 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ITGA2B 36
  • 48 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia itga2b.1 35
  • 53.18 (n)
  • 47.46 (a)
zebrafish
(Danio rerio)
Actinopterygii itga2b 36
  • 42 (a)
OneToOne
itga2b 35
  • 52.5 (n)
  • 44.22 (a)
fruit fly
(Drosophila melanogaster)
Insecta alphaPS4 37
  • 27 (a)
alphaPS5 37
  • 26 (a)
scb 37
  • 25 (a)
if 36
  • 20 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea pat-2 36
  • 24 (a)
OneToMany
Species with no ortholog for ITGA2B:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ITGA2B Gene

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

Paralogs for ITGA2B Gene

(7) SIMAP similar genes for ITGA2B Gene using alignment to 8 proteins:

genes like me logo Genes that share paralogs with ITGA2B: view

Variants for ITGA2B Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for ITGA2B Gene

P08514-ITA2B_HUMAN
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).

Sequence variations from dbSNP and Humsavar for ITGA2B Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
VAR_003979 Glanzmann thrombasthenia (GT)
VAR_003980 Glanzmann thrombasthenia (GT)
VAR_003981 Glanzmann thrombasthenia (GT)
VAR_003982 Glanzmann thrombasthenia (GT)
rs5911 - 44,375,697(+) TGGGG(A/C)TGGGC reference, missense

Structural Variations from Database of Genomic Variants (DGV) for ITGA2B Gene

Variant ID Type Subtype PubMed ID
dgv3175n71 CNV Loss 21882294

Variation tolerance for ITGA2B Gene

Residual Variation Intolerance Score: 4.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 12.19; 93.96% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ITGA2B Gene

HapMap Linkage Disequilibrium report
ITGA2B
Human Gene Mutation Database (HGMD)
ITGA2B

Disorders for ITGA2B Gene

MalaCards: The human disease database

(41) MalaCards diseases for ITGA2B Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
glanzmann thrombasthenia
  • glanzmann's thrombasthenia
bleeding disorder, platelet-type, 16, autosomal dominant
  • bleeding disorder, platelet-type 16
myocardial infarction
  • myocardial infarction, protection against
autosomal dominant macrothrombocytopenia
bernard-soulier syndrome type a
  • gp1ba-related giant platelet syndrome
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

ITA2B_HUMAN
  • Glanzmann thrombasthenia (GT) [MIM:273800]: A common inherited disease of platelet aggregation. It is characterized by mucocutaneous bleeding of mild-to-moderate severity. GT has been classified clinically into types I and II. In type I, platelets show absence of the glycoprotein IIb-IIIa complexes at their surface and lack fibrinogen and clot retraction capability. In type II, the platelets express the GPIIb-IIIa complex at reduced levels, have detectable amounts of fibrinogen, and have low or moderate clot retraction capability. {ECO:0000269 PubMed:10607701, ECO:0000269 PubMed:11798398, ECO:0000269 PubMed:12083483, ECO:0000269 PubMed:12181054, ECO:0000269 PubMed:12424194, ECO:0000269 PubMed:12506038, ECO:0000269 PubMed:15099289, ECO:0000269 PubMed:15219201, ECO:0000269 PubMed:17018384, ECO:0000269 PubMed:20020534, ECO:0000269 PubMed:7508443, ECO:0000269 PubMed:7706461, ECO:0000269 PubMed:8282784, ECO:0000269 PubMed:8704171, ECO:0000269 PubMed:9215749, ECO:0000269 PubMed:9473221, ECO:0000269 PubMed:9722314, ECO:0000269 PubMed:9734640, ECO:0000269 PubMed:9763559, ECO:0000269 PubMed:9920835}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Bleeding disorder, platelet-type 16 (BDPLT16) [MIM:187800]: An autosomal dominant form of congenital macrothrombocytopenia associated with platelet anisocytosis. It is a disorder of platelet production. Affected individuals may have no or only mildly increased bleeding tendency. In vitro studies show mild platelet functional abnormalities. {ECO:0000269 PubMed:21454453, ECO:0000269 PubMed:9834222}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for ITGA2B Gene

Glanzmann thrombasthenia (GpIIb-GpIIIa complex deficiency)

Relevant External Links for ITGA2B

Genetic Association Database (GAD)
ITGA2B
Human Genome Epidemiology (HuGE) Navigator
ITGA2B
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ITGA2B
genes like me logo Genes that share disorders with ITGA2B: view

Publications for ITGA2B Gene

  1. Double heterozygosity of the GPIIb gene in a Swiss patient with Glanzmann's thrombasthenia. (PMID: 9734640) Ruan J. … Nurden A.T. (Br. J. Haematol. 1998) 3 4 23 67
  2. Role of RFLP using TspRI for carrier detection in Glanzmann's thrombasthenia: a report on two families. (PMID: 19170775) Kannan M. … Saxena R. (Int J Lab Hematol 2010) 3 23
  3. Human platelet alloantigens HPA-1, HPA-2, and HPA-3 polymorphisms associated with extent of severe coronary artery disease. (PMID: 19562259) Abboud N. … Mahjoub T. (J. Thromb. Thrombolysis 2010) 3 23
  4. AlphaIIbbeta3 integrin: new allelic variants in Glanzmann thrombasthenia, effects on ITGA2B and ITGB3 mRNA splicing, expression, and structure-function. (PMID: 20020534) Jallu V. … Kaplan C. (Hum. Mutat. 2010) 3 23
  5. Novel homozygous mutation (c.175delG) in platelet glycoprotein ITGA2B gene as cause of Glanzmann's thrombasthenia type I. (PMID: 20514618) Vannier C. … Zieger B. (Klin Padiatr 2010) 3 23

Products for ITGA2B Gene

Sources for ITGA2B Gene

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