Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6915
Gene name Gene Name - the full gene name approved by the HGNC.
Thromboxane A2 receptor
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TBXA2R
Synonyms (NCBI Gene) Gene synonyms aliases
BDPLT13, TXA2-R
Chromosome Chromosome number
19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19p13.3
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a member of the G protein-coupled receptor family. The protein interacts with thromboxane A2 to induce platelet aggregation and regulate hemostasis. A mutation in this gene results in a bleeding disorder. Multiple transcript variants enc
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs387906691 C>T Risk-factor Coding sequence variant, missense variant
rs397514542 A>C Risk-factor Coding sequence variant, missense variant
rs1131691334 G>A Likely-pathogenic Coding sequence variant, missense variant
rs1599869510 T>C Likely-pathogenic Splice acceptor variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT022135 hsa-miR-124-3p Microarray 18668037
MIRT054726 hsa-miR-31-5p Luciferase reporter assay, Microarray, qRT-PCR, Western blot 24558106
MIRT054726 hsa-miR-31-5p Luciferase reporter assay, Microarray, qRT-PCR, Western blot 24558106
MIRT684264 hsa-miR-4432 HITS-CLIP 23313552
MIRT684263 hsa-miR-508-5p HITS-CLIP 23313552
Transcription factors
Transcription factor Regulation Reference
EGR1 Unknown 18698092
ETS1 Activation 18698092
GATA1 Activation 18698092
NFE2 Unknown 18698092
SP1 Unknown 18698092
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001669 Component Acrosomal vesicle IEA
GO:0004930 Function G protein-coupled receptor activity IEA
GO:0004960 Function Thromboxane receptor activity IEA
GO:0004961 Function Thromboxane A2 receptor activity TAS 8119956
GO:0005085 Function Guanyl-nucleotide exchange factor activity TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
188070 11608 ENSG00000006638
Protein
UniProt ID P21731
Protein name Thromboxane A2 receptor (TXA2-R) (Prostanoid TP receptor)
Protein function Receptor for thromboxane A2 (TXA2), a potent stimulator of platelet aggregation. The activity of this receptor is mediated by a G-protein that activates a phosphatidylinositol-calcium second messenger system. In the kidney, the binding of TXA2 t
PDB 8XJN , 8XJO
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00001 7tm_1 41 308 7 transmembrane receptor (rhodopsin family) Family
Sequence
Sequence length 343
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Calcium signaling pathway
Neuroactive ligand-receptor interaction
Platelet activation
  Prostanoid ligand receptors
G alpha (q) signalling events
G alpha (12/13) signalling events
Thromboxane signalling through TP receptor
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Asthma asthma N/A N/A ClinVar
Bleeding Disorder bleeding diathesis due to thromboxane synthesis deficiency, Bleeding disorder, platelet-type, 13, susceptibility to N/A N/A GenCC, ClinVar
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 23874428
Androgen Insensitivity Syndrome Associate 23279270
Arterial Occlusive Diseases Associate 19403042
Asthma Associate 15898979, 36936944, 37231900
Blood Platelet Disorders Associate 23279270, 24465800, 27641736, 28704403, 31389738, 32723322
Blood Platelet Disorders Stimulate 31389738
Cardiovascular Diseases Associate 24465800, 32723322, 35236104
Carotid Stenosis Associate 28704403, 30914039
Cerebral Infarction Associate 19403042, 27641736, 28704403, 30914039
Dental Plaque Associate 28704403