Gene Gene information from NCBI Gene database.
Entrez ID 6915
Gene name Thromboxane A2 receptor
Gene symbol TBXA2R
Synonyms (NCBI Gene)
BDPLT13TXA2-R
Chromosome 19
Chromosome location 19p13.3
Summary 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.
4
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.
310
miRTarBase ID miRNA Experiments Reference
MIRT022135 hsa-miR-124-3p Microarray 18668037
MIRT054726 hsa-miR-31-5p Luciferase reporter assayMicroarrayqRT-PCRWestern blot 24558106
MIRT054726 hsa-miR-31-5p Luciferase reporter assayMicroarrayqRT-PCRWestern blot 24558106
MIRT684264 hsa-miR-4432 HITS-CLIP 23313552
MIRT684263 hsa-miR-508-5p HITS-CLIP 23313552
Transcription factors Transcription factors information provided by TRRUST V2 database.
6
Transcription factor Regulation Reference
EGR1 Unknown 18698092
ETS1 Activation 18698092
GATA1 Activation 18698092
NFE2 Unknown 18698092
SP1 Unknown 18698092
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
37
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
188070 11608 ENSG00000006638
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
19
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Abnormal platelet aggregation Likely pathogenic rs1599869510 RCV000851879
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Bleeding disorder, platelet-type, 13, susceptibility to Likely pathogenic rs1363883059 RCV002245478
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Asthma Benign ClinVar
Disgenet
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
ASTHMA, ASPIRIN-INDUCED CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BLEEDING DIATHESIS DUE TO THROMBOXANE SYNTHESIS DEFICIENCY GenCC, Orphanet
GenCC, Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BLEEDING DISORDER DUE TO DEFECTIVE THROMBOXANE A2 RECEPTOR CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute Erythroblastic Leukemia Erythroblastic Leukemia BEFREE 16156795, 16499875
★☆☆☆☆
Found in Text Mining only
Androgen Insensitivity Syndrome Androgen insensitivity syndrome Pubtator 23279270 Associate
★☆☆☆☆
Found in Text Mining only
Arterial Occlusive Diseases Arterial occlusive disease Pubtator 19403042 Associate
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 30985753
★☆☆☆☆
Found in Text Mining only
Asthma Asthma BEFREE 10830912, 12000493, 15805995, 15898979, 17496729, 18031559, 20395963, 22017802, 23517037, 27058349
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Asthma Asthma Pubtator 15898979, 36936944, 37231900 Associate
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Asthma, Aspirin-Induced Asthma BEFREE 16502481
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Asthma, Aspirin-Induced Asthma CTD_human_DG 16502481, 20485159
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Astrocytoma Astrocytoma BEFREE 8632356
★☆☆☆☆
Found in Text Mining only
Ataxia Telangiectasia Ataxia Telangiectasia BEFREE 15898979
★☆☆☆☆
Found in Text Mining only