ITGA2B wt Allele

Preferred Label : ITGA2B wt Allele;

NCIt synonyms : GP2B; Platelet Fibrinogen Receptor, Alpha Subunit Gene; GTA; Protein Phosphatase 1, Regulatory Subunit 93 Gene; Integrin, Alpha 2b (Platelet Glycoprotein IIb of IIb/IIIa Complex, Antigen CD41B) Gene; CD41; Integrin Alpha 2b Gene; GPIIb; CD41B; HPA3; Platelet-Specific Antigen BAK Gene; BDPLT2; Integrin Subunit Alpha 2b wt Allele; BDPLT16; GT; PPP1R93; Integrin, Alpha 2b (Platelet Glycoprotein IIb of IIb/IIIa Complex, Antigen CD41) Gene; Integrin, Alpha-IIb Gene;

NCIt definition : Human ITGA2B wild-type allele is located in the vicinity of 17q21.32 and is approximately 17 kb in length. This allele, which encodes integrin alpha-IIb protein, plays a role in the regulation of blood clot formation. Mutations in the gene are associated with Glanzmann thrombasthenia.;

GenBank Accession Number : NM_000419;

Details

Origin ID

C77164;

UMLS CUI

C2697657;

Automatic exact mappings (from CISMeF team)
- Glanzmann thrombasthenia 1 [OMIM Phenotype]
- Glanzmann's thrombasthenia [DO Concept]
- HPA-3 [LOINC component]
- Integrin, alpha-2b [OMIM gene]
- integrin subunit alpha 2b [ORDO Gene]
- platelet membrane glycoprotein IIb [MeSH Descriptor]
OMIM relation
- Integrin, alpha-2b [OMIM gene]
See also inter- (CISMeF)
- Bleeding disorder, platelet-type, 16 [OMIM Phenotype]
- CD41 cells [LOINC component]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 17q21.32 [NCIt concept]
gene_is_element_in_pathway
- Actin Cytoskeleton Regulation Pathway [NCIt concept]
- Arf6 Signaling Pathway [NCIt concept]
- Arrhythmogenic Right Ventricular Cardiomyopathy Pathway [NCIt concept]
- Dilated Cardiomyopathy Pathway [NCIt concept]
- ECM-Receptor Interaction Signaling Pathway [NCIt concept]
- Ephrin B Reverse Signaling Pathway [NCIt concept]
- Focal Adhesion Pathway [NCIt concept]
- Hematopoietic Cell Lineage Pathway [NCIt concept]
- Hypertrophic Cardiomyopathy Pathway [NCIt concept]
- IL7 Signaling Pathway [NCIt concept]
- PTPN1 Signaling Pathway [NCIt concept]
- Small Cell Lung Cancer Pathway [NCIt concept]
gene_plays_role_in_process
- Cell Adhesion Process [NCIt concept]
- Heterodimerization [NCIt concept]
- Ligand Binding [NCIt concept]
- Platelet Aggregation Process [NCIt concept]
- Protein-Protein Interaction [NCIt concept]
- Receptor Signaling [NCIt concept]
- Signal Transduction [NCIt concept]
- Wound Repair [NCIt concept]

Keyword's position in hierarchy(ies) :

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