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mutLBSgeneDB |
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| Gene summary for ITGA2B |
 Gene summary |
| Basic gene Info. | Gene symbol | ITGA2B |
| Gene name | integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41) | |
| Synonyms | BDPLT16|BDPLT2|CD41|CD41B|GP2B|GPIIb|GT|GTA|HPA3|PPP1R93 | |
| Cytomap | UCSC genome browser: 17q21.32 | |
| Type of gene | protein-coding | |
| RefGenes | NM_000419.3, | |
| Description | GPalpha IIbintegrin alpha-IIbplatelet fibrinogen receptor, alpha subunitplatelet membrane glycoprotein IIbplatelet-specific antigen BAKprotein phosphatase 1, regulatory subunit 93 | |
| Modification date | 20141222 | |
| dbXrefs | MIM : 607759 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000005961 | ||
| HPRD : 06377 | ||
| Vega : OTTHUMG00000177935 | ||
| Protein | UniProt: P08514 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_ITGA2B | |
| BioGPS: 3674 | ||
| Pathway | NCI Pathway Interaction Database: ITGA2B | |
| KEGG: ITGA2B | ||
| REACTOME: ITGA2B | ||
| Pathway Commons: ITGA2B | ||
| Context | iHOP: ITGA2B | |
| ligand binding site mutation search in PubMed: ITGA2B | ||
| UCL Cancer Institute: ITGA2B | ||
| Assigned class in mutLBSgeneDB | C: This gene just belongs to mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID | GO:0007229 | integrin-mediated signaling pathway | 23382103 |
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| Ligand binding site mutations for ITGA2B |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | F262 | D263N | COAD | 1 | L424 | Q426H | LUAD | 1 | C633 | D632N | OV | 1 | L424 | G425V | PRAD | 1 | E274 | E274K | SKCM | 1 | A481 | R480I | STAD | 1 | D276,D278 | G277R | STAD | 1 |
| cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, HNSC: Head and neck squamous cell carcinoma, KICH: Kidney chromophobe, KIRC: Kidney renal clear cell carcinoma, KIRP: Kidney renal papillary cell carcinoma, LAML: Acute myeloid leukemia, LUAD: Lung adenocarcinoma, LUSC: Lung squamous cell carcinoma, OV: Ovarian serous cystadenocarcinoma, PAAD: Pancreatic adenocarcinoma, PRAD: Prostate adenocarcinoma, SKCM: Skin cutaneous melanoma, STAD: Stomach adenocarcinoma, THCA: Thyroid carcinoma, UCEC: Uterine corpus endometrial carcinoma. |
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| Protein structure related information for ITGA2B |
| Relative protein structure stability change (ΔΔE) using Mupro 1.1 Mupro score denotes assessment of the effect of mutations on thermodynamic stability. (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability) |
 : nsSNV at non-LBS : nsSNV at LBS |
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| nsSNVs sorted by the relative stability change of protein structure by each mutation Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene. |
| LBS | AAchange of nsSNV | Relative stability change | L424 | Q426H | -0.91080917 | F262 | D263N | -0.68691997 | C633 | D632N | -0.67356234 | E274 | E274K | -0.64294182 | D278 | G277R | -0.23366477 | D276 | G277R | -0.23366477 | A481 | R480I | -0.21587068 | L424 | G425V | -0.063435617 |
| (MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132) |
| Structure image for ITGA2B from PDB |
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| Differential gene expression and gene-gene network for ITGA2B |
| Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types |
| Differential co-expressed gene network based on protein-protein interaction data (CePIN) |
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| Phenotype information for ITGA2B |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0040015 | Thrombasthenia | 51 | Biomarker, GeneticVariation |
| umls:C0038454 | Stroke | 13 | Biomarker, GeneticVariation |
| umls:C0040034 | Thrombocytopenia | 3 | Biomarker, GeneticVariation |
| umls:C0007274 | Carotid Artery Thrombosis | 1 | Biomarker |
| umls:C2937358 | Cerebral Hemorrhage | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for ITGA2B |
| Gene expression profile of anticancer drug treated cell-lines (CCLE) Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient. |
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| Gene-centered drug-gene interaction network |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Approved | DB00054 | Abciximab | Biotech |  |
| Approved | DB00775 | Tirofiban | Small molecule |  |
| Investigational | DB04863 | Lefradafiban | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of ITGA2B go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS |
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| Conservation information for LBS of ITGA2B |
| Multiple alignments for P08514 in multiple species |
| LBS | AA sequence | # species | Species |
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