Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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6915 |
Gene nameGene Name - the full gene name approved by the HGNC.
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Thromboxane A2 receptor |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
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TBXA2R |
SynonymsGene synonyms aliases
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BDPLT13, TXA2-R |
ChromosomeChromosome number
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19 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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19p13.3 |
SummarySummary of gene provided in NCBI Entrez Gene.
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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 |
SNPsSNP 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 |
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miRNAmiRNA information provided by mirtarbase database.
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Transcription factors
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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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 |
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Sequence |
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Sequence length |
343 |
Interactions |
View interactions |
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
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Associated diseases
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Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Asthma |
Asthma, Aspirin-Induced |
rs324981, rs121912630, rs150116809, rs4950928, rs708494, rs1581842283 |
16502481, 20485159 |
Bleeding disorder |
Bleeding Disorder due to Defective Thromboxane A2 Receptor, Bleeding diathesis due to thromboxane synthesis deficiency |
rs121918444, rs387906691, rs397514542, rs398122372, rs398122373, rs773148506, rs1064797083, rs1064797085, rs1064797087, rs761749948 |
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Platelet-type bleeding disorder |
Blood Platelet Disorders |
rs1560045738, rs70961716, rs142186404, rs121918035, rs121918444, rs760074158, rs2146873791, rs387907345, rs387907346, rs387907348, rs387907350, rs397989794, rs587777211, rs587777529, rs724159972, rs572295823, rs550565800, rs869320714, rs869320716, rs757188030, rs1057518838, rs1057518837, rs148051111, rs1555122100, rs1554724694, rs755459581, rs752492512, rs1592371840, rs747559032, rs778608263, rs148910227, rs3211901, rs1594755688, rs1594760036, rs1594760140, rs1594768463, rs1594771224, rs1594771270, rs551607784, rs774996406, rs200434813 |
7929844, 19828703 |
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Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Hemorrhagic disorders |
Hemorrhagic Disorders |
|
19828703 |
Pulmonary thromboembolism |
Pulmonary Thromboembolisms |
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7740511 |
Rhinitis |
Rhinitis |
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12167471 |
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