TBXA2R Chromosome 19
Thromboxane A2 receptor
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What This Gene Does
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 encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
Gene Info
Gene Group
Prostaglandin receptors
Locus Type
gene with protein product
Location
19p13.3
Ensembl
ENSG00000006638
Associated Conditions (7)
Impaired thromboxane A2 agonist-induced platelet aggregation
Bleeding disorder
platelet-type
13
susceptibility to
Inborn genetic diseases
Abnormal platelet aggregation
Key Variants
RS201310328
Conflicting classifications of pathogenicity
Impaired thromboxane A2 agonist-induced platelet aggregation, Impaired thromboxane A2 agonist-induced platelet aggregation
Health Risk
RS5749
Conflicting classifications of pathogenicity
Health Risk
RS764937305
Conflicting classifications of pathogenicity
Bleeding disorder, platelet-type, 13
Health Risk
RS780319875
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1131691334
Likely pathogenic
Health Risk
RS1363883059
Likely pathogenic
Bleeding disorder, platelet-type, 13
Health Risk
RS1599869510
Likely pathogenic
Abnormal platelet aggregation, Abnormal platelet aggregation
Health Risk
RS387906691
risk factor
Bleeding disorder, platelet-type, 13
Health Risk
RS397514542
risk factor
Bleeding disorder, platelet-type, 13
Health Risk
All Variants (9)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS201310328 | Health Risk | Conflicting classifications of pathogenicity | Impaired thromboxane A2 agonist-induced platelet aggregation, Impaired thromboxane A2 agonist-induced platelet aggregation |
| RS5749 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS764937305 | Health Risk | Conflicting classifications of pathogenicity | Bleeding disorder, platelet-type, 13 |
| RS780319875 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1131691334 | Health Risk | Likely pathogenic | — |
| RS1363883059 | Health Risk | Likely pathogenic | Bleeding disorder, platelet-type, 13 |
| RS1599869510 | Health Risk | Likely pathogenic | Abnormal platelet aggregation, Abnormal platelet aggregation |
| RS387906691 | Health Risk | risk factor | Bleeding disorder, platelet-type, 13 |
| RS397514542 | Health Risk | risk factor | Bleeding disorder, platelet-type, 13 |