TBXA2R wt Allele

Preferred Label : TBXA2R wt Allele;

NCIt synonyms : TXA2-R; BDPLT13; Thromboxane A2 Receptor wt Allele;

NCIt definition : Human TBXA2R wild-type allele is located in the vicinity of 19p13.3 and is approximately 12 kb in length. This allele, which encodes thromboxane A2 receptor protein, plays a role in both receptor signaling and platelet aggregation. Mutation of the gene is associated with bleeding disorder platelet-type 13.;

GenBank Accession Number : NM_001060;

Details

Origin ID

C105092;

UMLS CUI

C3540644;

OMIM relation
- Thromboxane a2 receptor, platelet [OMIM gene]
See also inter- (CISMeF)
- Bleeding disorder, platelet-type, 13, susceptibility to [OMIM Phenotype]
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
- 19p13.3 [NCIt concept]
gene_is_element_in_pathway
- Calcium-Mediated Signaling Pathway [NCIt concept]
- Eicosanoid Metabolism Pathway [NCIt concept]
- Neuroactive Ligand-Receptor Signaling Pathway [NCIt concept]
- Thromboxane A2 Receptor Family Signaling Pathway [NCIt concept]
gene_plays_role_in_process
- G Protein-Coupled Receptor Signaling [NCIt concept]
- Ligand Binding [NCIt concept]
- Platelet Activation [NCIt concept]
- Receptor Signaling [NCIt concept]
- Signal Transduction [NCIt concept]
- Signal Transduction Induction [NCIt concept]

Keyword's position in hierarchy(ies) :

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