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
- Protein Phosphatase 1, Regulatory Subunit 93 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
- Platelet Fibrinogen Receptor, Alpha Subunit 3
- Platelet-Specific Antigen BAK 3
- Integrin Alpha-IIb 3
External Ids for ITGA2B Gene
- HGNC: 6138
- Entrez Gene: 3674
- Ensembl: ENSG00000005961
- OMIM: 607759
- UniProtKB: P08514
Previous HGNC Symbols for ITGA2B Gene
- GP2B
Previous GeneCards Identifiers for ITGA2B Gene
- GC17M042191
- GC17M044626
- GC17M042460
- GC17M042924
- GC17M039805
- GC17M038213
Summaries 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 Bleeding Disorder, Platelet-Type, 16, Autosomal Dominant and Glanzmann Thrombasthenia. Among its related pathways are GPCR Pathway and MAPK-Erk Pathway. 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.
-
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.
No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ITGA2B Gene
Genomics for ITGA2B Gene
Regulatory Elements for ITGA2B Gene
Enhancers for ITGA2B Gene
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around ITGA2B on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the ITGA2B gene promoter:
Regulatory Element Products
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:
-
- 17q21.31 by Ensembl
- 17q21.31 by Entrez Gene
- 17q21.31 by HGNC
ITGA2B Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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
Protein Expression for ITGA2B Gene
Post-translational modifications for ITGA2B Gene
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)
-
Custom Antibody ServicesOriGene Antibodies for ITGA2B
- Novus Biologicals Antibodies for ITGA2B
-
Cloud-Clone Corp. Antibodies for ITGA2B
- Invitrogen Antibodies for ITGA2B
- antibodies-online Antibodies for ITGA2B: See all 7
- GeneTex ITGA2B antibody for ITGA2B
-
Santa Cruz Biotechnology (SCBT) Antibodies for ITGA2B
Protein Products
- R&D Systems Proteins and Enzymes for ITGA2B (Integrin alpha 2b beta 3)
-
OriGene Purified Proteins for ITGA2B
- Search Origene for MassSpec and Protein Over-expression Lysates for ITGA2B
- Origene Custom Protein Services for ITGA2B
-
Cloud-Clone Corp. Proteins for ITGA2B
- antibodies-online Proteins for ITGA2B: See all 3
- Search antibodies-online for peptides
- Search GeneTex for Proteins for ITGA2B
No data available for DME Specific Peptides for ITGA2B Gene
Domains & Families for ITGA2B Gene
Gene Families for ITGA2B Gene
Protein Domains for ITGA2B Gene
Suggested Antigen Peptide Sequences for ITGA2B Gene
Graphical View of Domain Structure for InterPro Entry
P08514- Family:
-
- Belongs to the integrin alpha chain family.
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.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 14681217 |
| GO:0042802 | identical protein binding | IPI | 11606749 |
| GO:0046872 | metal ion binding | IEA | -- |
| GO:0050840 | extracellular matrix binding | IEA | -- |
| GO:0070051 | fibrinogen binding | IEA | -- |
Phenotypes for ITGA2B Gene
- MGI mutant phenotypes for ITGA2B:
- inferred from 3 alleles
- GenomeRNAi human phenotypes for ITGA2B:
-
- Increased viability
- Increased vaccinia virus (VACV) infection
- Decreased shRNA abundance (Z-score < -2)
- Dynamic nuclei (hole, folded or small irregular)
- Decreased human papilloma virus 16 (HPV16) pseudovirus infection
- Decreased NF-kappaB reporter expression
- Increased shRNA abundance (Z-score > 2)
- Decreased IL-8 secretion
- Increased circadian period length
Animal Models for ITGA2B Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for ITGA2B
-
-
ViGene Biosciences lentiviral particle packaged cDNA for ITGA2B gene
-
ViGene Biosciences ready-to-package AAV shRNAs for ITGA2B gene
- Search ViGene Biosciences for ITGA2B
CRISPR Products
-
OriGene CRISPR knockouts for ITGA2B
-
Santa Cruz Biotechnology (SCBT) CRISPR for ITGA2B
- GenScript: Design CRISPR guide RNA sequences for ITGA2B
miRNA Products
- Search ViGene Biosciences for ITGA2B
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for ITGA2B
- Browse OriGene Inhibitory RNA Products For ITGA2B
-
ViGene Biosciences ready-to-package AAV shRNAs for ITGA2B gene
Clone Products
-
OriGene ORF clones in human for ITGA2B
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for ITGA2B
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Addgene plasmids for ITGA2B
- VectorBuilder custom plasmid, inducible vectors for ITGA2B
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for ITGA2B
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- R&D Systems cDNA Clones for ITGA2B (Integrin alpha 2b/CD41)
Cell Line Products
-
Horizon Cell Lines for ITGA2B
-
ViGene Biosciences adenoviral particle packaged cDNA for ITGA2B gene
-
ViGene Biosciences lentiviral particle packaged cDNA for ITGA2B gene
-
ViGene Biosciences ready-to-package AAV shRNAs for ITGA2B gene
No data available for Enzyme Numbers (IUBMB) , 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.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| extracellular | 5 |
| nucleus | 3 |
| cytosol | 3 |
| cytoskeleton | 2 |
| endoplasmic reticulum | 2 |
| lysosome | 2 |
| peroxisome | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005886 | plasma membrane | TAS | -- |
| GO:0005887 | integral component of plasma membrane | TAS | 2439501 |
| GO:0005925 | focal adhesion | IEA | -- |
| GO:0008305 | integrin complex | IEA | -- |
| GO:0009897 | external side of plasma membrane | IEA | -- |
Pathways & Interactions for ITGA2B Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | RET signaling |
.92
|
.92
|
| 2 | Apoptotic Pathways in Synovial Fibroblasts |
.66
.65
|
.57
|
| 3 | Integrin Pathway |
.67
.67
.56
|
.56
|
| 4 | Signaling by moderate kinase activity BRAF mutants | ||
| 5 | Focal Adhesion |
.62
.62
|
.33
|
Pathways by source for ITGA2B Gene
5 Sino Biological pathways for ITGA2B Gene
1 Cell Signaling Technology pathway for ITGA2B Gene
7 BioSystems pathways for ITGA2B Gene
68 Reactome pathways for ITGA2B Gene
1 PharmGKB pathway for ITGA2B Gene
13 KEGG pathways for ITGA2B Gene
1 GeneGo (Thomson Reuters) pathway for ITGA2B Gene
2 R&D Systems pathways for ITGA2B Gene
Interacting Proteins for ITGA2B Gene
Selected Interacting proteins:
P08514-ITA2B_HUMAN
ENSP00000262407
for ITGA2B Gene via
MINT
STRING
UniProtKB
IID
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0002576 | platelet degranulation | TAS | -- |
| 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,IEA | 23382103 |
No data available for SIGNOR curated interactions for ITGA2B Gene
Drugs & Compounds for ITGA2B Gene
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| BTT 3033 |
|
1259028-99-3 |
|
|
(5) Tocris Compounds for ITGA2B Gene
| Compound | Action | Cas Number |
|---|---|---|
| BIO 1211 | Selective alpha4beta1 (VLA-4) inhibitor | 187735-94-0 |
| BTT 3033 | Selective inhibitor of integrin alpha2beta1 | 1259028-99-3 |
| Cilengitide | Potent and selective inhibitor of integrins alphavbeta3 and alphavbeta5 | 188968-51-6 |
| Obtustatin | Potent and selective alpha1beta1 inhibitor | |
| TC-I 15 | Potent alpha2beta1 inhibitor; displays antithrombotic activity in vivo | 916734-43-5 |
(1) ApexBio Compounds for ITGA2B Gene
| Compound | Action | Cas Number |
|---|---|---|
| Tirofiban | 144494-65-5 |
Transcripts for ITGA2B Gene
mRNA/cDNA for ITGA2B Gene
- (3) REFSEQ mRNAs :
- (11) Additional mRNA sequences :
- (99) Selected AceView cDNA sequences:
- (10) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for ITGA2B Gene
CRISPR Products
-
OriGene CRISPR knockouts for ITGA2B
-
Santa Cruz Biotechnology (SCBT) CRISPR for ITGA2B
- GenScript: Design CRISPR guide RNA sequences for ITGA2B
miRNA Products
- Search ViGene Biosciences for ITGA2B
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for ITGA2B
- Browse OriGene Inhibitory RNA Products For ITGA2B
-
ViGene Biosciences ready-to-package AAV shRNAs for ITGA2B gene
Clone Products
-
OriGene ORF clones in human for ITGA2B
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for ITGA2B
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Addgene plasmids for ITGA2B
- VectorBuilder custom plasmid, inducible vectors for ITGA2B
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for ITGA2B
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- R&D Systems cDNA Clones for ITGA2B (Integrin alpha 2b/CD41)
| 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: |
Expression for ITGA2B Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Blood (Cardiovascular System)
- Definitive Hematopoietic Stem Cells Definitive Yolk Sac
- Megakaryocytes Hematopoietic Bone Marrow
- Primitive Erythrocytes Extraembryonic Blood Islands
- Hematopoietic Stem Cells Thymus
- Erythroid Progenitor Cells Definitive Yolk Sac
-
Yolk Sac (Extraembryonic Tissues)
- Definitive Hematopoietic Stem Cells Definitive Yolk Sac
- Erythroid Progenitor Cells Definitive Yolk Sac
-
Extraembryonic Mesoderm (Extraembryonic Tissues)
- Primitive Erythrocytes Extraembryonic Blood Islands
-
Thymus (Hematopoietic System)
- Hematopoietic Stem Cells Thymus
- Bone (Muscoskeletal System)
- Liver (Hepatobiliary System)
mRNA differential expression in normal tissues according to GTEx for ITGA2B Gene
This gene is overexpressed in Whole Blood (x28.3).
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
NURSA nuclear receptor signaling pathways regulating expression of ITGA2B Gene:
ITGA2BSOURCE GeneReport for Unigene cluster for ITGA2B Gene:
Hs.411312mRNA 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.
Evidence on tissue expression from TISSUES for ITGA2B Gene
- Bone marrow(4.6)
- Lung(4.3)
- Spleen(4.3)
- Blood(3.9)
- Heart(2.6)
- Liver(2.1)
Phenotype-based relationships between genes and organs from Gene ORGANizer for ITGA2B Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- integumentary
- nervous
- reproductive
Organs:
Head and neck:
- brain
- face
- head
- mouth
- nose
Abdomen:
- intestine
- large intestine
- small intestine
- stomach
Pelvis:
- uterus
General:
- blood
- blood vessel
- coagulation system
- red blood cell
- skin
Primer Products
-
OriGene qPCR primer pairs for ITGA2B
Orthologs for ITGA2B Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | ITGA2B 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | ITGA2B 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | ITGA2B 34 35 |
|
||
| mouse (Mus musculus) |
Mammalia | Itga2b 34 16 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Itga2b 34 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | ITGA2B 35 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 35 |
|
ManyToMany | |
| chicken (Gallus gallus) |
Aves | ITGA2B 35 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | ITGA2B 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | itga2b.1 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | itga2b 34 35 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | alphaPS4 36 |
|
|
|
| alphaPS5 36 |
|
|
|||
| scb 36 |
|
|
|||
| if 35 |
|
OneToMany | |||
| worm (Caenorhabditis elegans) |
Secernentea | pat-2 35 |
|
OneToMany |
- Species where no ortholog for ITGA2B was found in the sources mined by GeneCards:
-
- 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)
Paralogs for ITGA2B Gene
Paralogs for ITGA2B Gene
(7) SIMAP similar genes for ITGA2B Gene using alignment to 8 proteins:
Variants for ITGA2B Gene
Polymorphic Variants from UniProtKB/Swiss-Prot for ITGA2B Gene
- ITA2B_HUMAN-P08514
- 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 | Clin | Chr 17 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs137852907 | Pathogenic, Glanzmann thrombasthenia (GT) [MIM:273800] | 44,384,567(-) | CGTGG(A/G)CGAGT | reference, missense | |
| rs137852908 | Pathogenic, Glanzmann thrombasthenia (GT) [MIM:273800] | 44,383,630(-) | GGGGC(A/G)TGTGT | reference, missense | |
| rs137852910 | Pathogenic, Glanzmann thrombasthenia (GT) [MIM:273800] | 44,383,640(-) | TGGCC(A/G)AAGTG | reference, missense | |
| rs137852911 | Pathogenic, Glanzmann thrombasthenia (GT) [MIM:273800] | 44,385,193(-) | GGTGC(C/T)TGGGG | reference, missense | |
| rs74475415 | Glanzmann thrombasthenia (GT) [MIM:273800] | 44,376,323(-) | GGCCC(A/C)AGTGG | reference, missense |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| nsv1146669 | OTHER | inversion | 26484159 |
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
Disorders for ITGA2B Gene
(36) MalaCards diseases for ITGA2B Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| bleeding disorder, platelet-type, 16, autosomal dominant |
|
|
| glanzmann thrombasthenia |
|
|
| autosomal dominant macrothrombocytopenia |
|
|
| thrombasthenia of glanzmann and naegeli, itga2b-related |
|
|
| thrombasthenia |
|
|
Search ITGA2B in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
ITA2B_HUMAN- 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.
- 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.
Genatlas disease for ITGA2B Gene
Glanzmann thrombasthenia (GpIIb-GpIIIa complex deficiency)
Relevant External Links for ITGA2B
Publications for ITGA2B Gene
- 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 4 22 64
- 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 22 46 64
- Molecular defects in ITGA2B and ITGB3 genes in patients with Glanzmann thrombasthenia. (PMID: 19691478) Kannan M. … Saxena R. (J. Thromb. Haemost. 2009) 3 22 46 64
- Polymorphisms of the human platelet alloantigens HPA-1, HPA-2, HPA-3, and HPA-4 in ischemic stroke. (PMID: 18383324) Saidi S. … Almawi W.Y. (Am. J. Hematol. 2008) 3 22 46 64
- 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. (PMID: 15227729) Park S. … Jang Y. (Yonsei Med. J. 2004) 3 22 46 64
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