Identity
HGNC
LOCATION
7q34
LOCUSID
ALIAS
BDPLT14,CYP5,CYP5A1,GHOSAL,THAS,TS,TXAS,TXS
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 6916
MIM: 274180
HGNC: 11609
Ensembl: ENSG00000059377
Variants:
dbSNP: 6916
ClinVar: 6916
TCGA: ENSG00000059377
COSMIC: TBXAS1
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA443450 | Asthma | Disease | ClinicalAnnotation | associated | PD | 21449675 | |
| PA448497 | aspirin | Chemical | ClinicalAnnotation | associated | PD | 21449675 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38320993 | 2024 | Genome-wide association study implicates the role of TBXAS1 in the pathogenesis of depressive symptoms among the Korean population. | 1 |
| 38320993 | 2024 | Genome-wide association study implicates the role of TBXAS1 in the pathogenesis of depressive symptoms among the Korean population. | 1 |
| 35395429 | 2022 | Novel TBXAS1 variants in two Indian children with Ghosal hematodiaphyseal dysplasia: A concise report. | 1 |
| 35923246 | 2022 | TBXAS1 Gene Polymorphism Is Associated with the Risk of Ischemic Stroke of Metabolic Syndrome in a Chinese Han Population. | 2 |
| 35395429 | 2022 | Novel TBXAS1 variants in two Indian children with Ghosal hematodiaphyseal dysplasia: A concise report. | 1 |
| 35923246 | 2022 | TBXAS1 Gene Polymorphism Is Associated with the Risk of Ischemic Stroke of Metabolic Syndrome in a Chinese Han Population. | 2 |
| 33185009 | 2021 | Ghosal hematodiaphyseal dysplasia and response to corticosteroid therapy. | 2 |
| 33527589 | 2021 | A new insight into subinteractomes of functional antagonists: Thromboxane (CYP5A1) and prostacyclin (CYP8A1) synthases. | 3 |
| 33595912 | 2021 | Novel compound heterozygous variants of TBXAS1 presenting with Ghosal hematodiaphyseal dysplasia treated with steroids. | 3 |
| 33185009 | 2021 | Ghosal hematodiaphyseal dysplasia and response to corticosteroid therapy. | 2 |
| 33527589 | 2021 | A new insight into subinteractomes of functional antagonists: Thromboxane (CYP5A1) and prostacyclin (CYP8A1) synthases. | 3 |
| 33595912 | 2021 | Novel compound heterozygous variants of TBXAS1 presenting with Ghosal hematodiaphyseal dysplasia treated with steroids. | 3 |
| 31026093 | 2019 | Thromboxane A synthase 1 gene expression and promotor haplotypes are associated with risk of large artery-atherosclerosis stroke in Iranian population. | 4 |
| 31026093 | 2019 | Thromboxane A synthase 1 gene expression and promotor haplotypes are associated with risk of large artery-atherosclerosis stroke in Iranian population. | 4 |
| 28868793 | 2018 | Chronic steroid-response pancytopenia and increased bone density due to thromboxane synthase deficiency. | 5 |
Citation
Dessen P
TBXAS1 (thromboxane A synthase 1)
Atlas Genet Cytogenet Oncol Haematol. 2007-02-01
Online version: http://atlasgeneticsoncology.org/gene/46559/tbxas1
