TBXAS1 Gene

HGNC Family	Cytochrome P450s (CYP)
Name	thromboxane A synthase 1 (platelet)
Description	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. However, this protein is considered a member of the cytochrome P450 superfamily on the basis of sequence similarity rather than functional similarity. This endoplasmic reticulum membrane protein catalyzes the conversion of prostglandin H2 to thromboxane A2, a potent vasoconstrictor and inducer of platelet aggregation. The enzyme plays a role in several pathophysiological processes including hemostasis, cardiovascular disease, and stroke. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nTBXAS1 encodes thromboxane A synthase, the key enzyme that converts prostaglandin H₂ into thromboxane A₂ (TXA₂), a potent mediator of vasoconstriction, platelet aggregation, and angiogenic regulation. Altered TBXAS1 expression has been implicated in various malignancies. For example, overexpression in colon adenocarcinoma cells, invasive bladder tumors, lung cancers, and pituitary adenomas correlates with enhanced tumor growth, increased angiogenesis, invasiveness, and poorer patient survival. In contrast, loss‐of‐function mutations in TBXAS1 are causative for Ghosal hematodiaphyseal dysplasia—a syndrome characterized by abnormal bone density and defective hematopoiesis due to impaired TXA₂ production. Furthermore, TBXAS1 contributes to additional eicosanoid biosynthetic pathways, such as the production of 12‑hydroxyheptadecatrienoic acid (12‑HHT), which may further modulate inflammatory and tumorigenic responses."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "8"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nBeyond oncologic contexts, TBXAS1 plays a crucial role in cardiovascular physiology and pathology. Its expression within atherosclerotic plaques and the presence of specific genetic polymorphisms have been associated with increased risks of myocardial infarction, ischemic stroke (including small‐artery occlusion subtypes), and large‐artery atherosclerosis. Epigenetic factors—such as promoter hypomethylation observed in preeclampsia—lead to TBXAS1 upregulation, contributing to TXA₂‐mediated vasoconstriction, platelet activation, and vascular inflammation. In addition, variations in TBXAS1 are linked to respiratory conditions like aspirin‐intolerant asthma and influence the efficacy of antiplatelet therapies, thereby affecting treatment responses and cardiovascular outcomes."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "9", "end_ref": "24"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nIn addition to its functional roles in disease processes, genetic variations in TBXAS1 are emerging as valuable biomarkers and therapeutic targets. Specific exon polymorphisms and promoter variants have been shown to influence enzyme activity and TXA₂ production, which not only affect cardiovascular risk and drug responsiveness (e.g., clopidogrel resistance) but also modulate neuropsychiatric traits such as depressive symptoms—where decreased TBXAS1 expression appears to elevate risk. These findings underscore the multifaceted impact of TBXAS1 in regulating eicosanoid-mediated signaling across diverse pathological conditions."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "25"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Prasenohadi Pradono, Ryushi Tazawa, Makoto Maemondo, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Gene transfer of thromboxane A(2) synthase and prostaglandin I(2) synthase antithetically altered tumor angiogenesis and tumor growth."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cancer Res (2002)"}]}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "11782360"}], "href": "https://pubmed.ncbi.nlm.nih.gov/11782360"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Omar Moussa, John S Yordy, Hassan Abol-Enein, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Prognostic and functional significance of thromboxane synthase gene overexpression in invasive bladder cancer."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cancer Res (2005)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1158/0008-5472.CAN-05-1622"}], "href": "https://doi.org/10.1158/0008-5472.CAN-05-1622"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "16357168"}], "href": "https://pubmed.ncbi.nlm.nih.gov/16357168"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Akihiro Yoshimoto, Kazuo Kasahara, Atsuhiro Kawashima, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Characterization of the prostaglandin biosynthetic pathway in non-small cell lung cancer: a comparison with small cell lung cancer and correlation with angiogenesis, angiogenic factors and metastases."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Oncol Rep (2005)"}]}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15870920"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15870920"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Onder Onguru, Bernd W Scheithauer, Kalman Kovacs, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Analysis of Cox-2 and thromboxane synthase expression in pituitary adenomas and carcinomas."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Endocr Pathol (2004)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1385/ep:15:1:17"}], "href": "https://doi.org/10.1385/ep:15:1:17"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15067173"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15067173"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "David Geneviève, Valérie Proulle, Bertrand Isidor, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Thromboxane synthase mutations in an increased bone density disorder (Ghosal syndrome)."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Genet (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ng.2007.66"}], "href": "https://doi.org/10.1038/ng.2007.66"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18264100"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18264100"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Sun Young Kim, Alexander Ing, Shunyou Gong, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Novel compound heterozygous variants of TBXAS1 presenting with Ghosal hematodiaphyseal dysplasia treated with steroids."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Genet Genomic Med (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/mgg3.1494"}], "href": "https://doi.org/10.1002/mgg3.1494"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "33595912"}], "href": "https://pubmed.ncbi.nlm.nih.gov/33595912"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Murugan Sudhakar, Madhubala Sharma, Sasidaran Kandasamy, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Novel TBXAS1 variants in two Indian children with Ghosal hematodiaphyseal dysplasia: A concise report."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Eur J Med Genet (2022)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ejmg.2022.104498"}], "href": "https://doi.org/10.1016/j.ejmg.2022.104498"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "35395429"}], "href": "https://pubmed.ncbi.nlm.nih.gov/35395429"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Takehiko Matsunobu, Toshiaki Okuno, Chieko Yokoyama, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Thromboxane A synthase-independent production of 12-hydroxyheptadecatrienoic acid, a BLT2 ligand."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Lipid Res (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1194/jlr.M037754"}], "href": "https://doi.org/10.1194/jlr.M037754"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24009185"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24009185"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Rozenn N Lemaitre, Kenneth Rice, Kristin Marciante, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Variation in eicosanoid genes, non-fatal myocardial infarction and ischemic stroke."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Atherosclerosis (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.atherosclerosis.2008.10.011"}], "href": "https://doi.org/10.1016/j.atherosclerosis.2008.10.011"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19046748"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19046748"}]}, {"type": "r", "ref": 10, "children": [{"type": "t", "text": "Ahmad A Mousa, Jerome F Strauss, Scott W Walsh "}, {"type": "b", "children": [{"type": "t", "text": "Reduced methylation of the thromboxane synthase gene is correlated with its increased vascular expression in preeclampsia."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hypertension (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1161/HYPERTENSIONAHA.111.188730"}], "href": "https://doi.org/10.1161/HYPERTENSIONAHA.111.188730"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22493072"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22493072"}]}, {"type": "r", "ref": 11, "children": [{"type": "t", "text": "Anders Gabrielsen, Hong Qiu, Magnus Bäck, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Thromboxane synthase expression and thromboxane A2 production in the atherosclerotic lesion."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Mol Med (Berl) (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s00109-010-0621-6"}], "href": "https://doi.org/10.1007/s00109-010-0621-6"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20383787"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20383787"}]}, {"type": "r", "ref": 12, "children": [{"type": "t", "text": "Xingyang Yi, Jing Lin, Hua Luo, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Genetic variants of PTGS2, TXA2R and TXAS1 are associated with carotid plaque vulnerability, platelet activation and TXA2 levels in ischemic stroke patients."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS One (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pone.0180704"}], "href": "https://doi.org/10.1371/journal.pone.0180704"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28704403"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28704403"}]}, {"type": "r", "ref": 13, "children": [{"type": "t", "text": "Sun-Hee Oh, Yong-Hoon Kim, Se-Min Park, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Association analysis of thromboxane A synthase 1 gene polymorphisms with aspirin intolerance in asthmatic patients."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Pharmacogenomics (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.2217/pgs.10.181"}], "href": "https://doi.org/10.2217/pgs.10.181"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21449675"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21449675"}]}, {"type": "r", "ref": 14, "children": [{"type": "t", "text": "Sun Ah Park, Byung Lae Park, Jeong Ho Park, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Association of polymorphisms in thromboxane A2 receptor and thromboxane A synthase 1 with cerebral infarction in a Korean population."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "BMB Rep (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.5483/bmbrep.2009.42.4.200"}], "href": "https://doi.org/10.5483/bmbrep.2009.42.4.200"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19403042"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19403042"}]}, {"type": "r", "ref": 15, "children": [{"type": "t", "text": "Chen-Hsueh Pai, Ching-Tzu Yen, Chie-Pein Chen, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Lack of Thromboxane Synthase Prevents Hypertension and Fetal Growth Restriction after High Salt Treatment during Pregnancy."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS One (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pone.0151617"}], "href": "https://doi.org/10.1371/journal.pone.0151617"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26974824"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26974824"}]}, {"type": "r", "ref": 16, "children": [{"type": "t", "text": "Shahin Ramazi, Hafez Heydari-Zarnagh, Maryam Goudarzian, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Thromboxane A synthase 1 gene expression and promotor haplotypes are associated with risk of large artery-atherosclerosis stroke in Iranian population."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Cell Biochem (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/jcb.28787"}], "href": "https://doi.org/10.1002/jcb.28787"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "31026093"}], "href": "https://pubmed.ncbi.nlm.nih.gov/31026093"}]}, {"type": "r", "ref": 17, "children": [{"type": "t", "text": "Chung-Ying K Chen, Elizabeth M Poole, Cornelia M Ulrich, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Functional analysis of human thromboxane synthase polymorphic variants."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Pharmacogenet Genomics (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1097/FPC.0b013e3283562d82"}], "href": "https://doi.org/10.1097/FPC.0b013e3283562d82"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22735388"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22735388"}]}, {"type": "r", "ref": 18, "children": [{"type": "t", "text": "Bao-zhu Wang, Yi-tong Ma, Zhen-yan Fu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "[Association of Rs10487667 genetic polymorphism of thromboxane synthase with myocardial infarction in Uigur population of Xinjiang]."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Zhonghua Yu Fang Yi Xue Za Zhi (2010)"}]}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21215134"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21215134"}]}, {"type": "r", "ref": 19, "children": [{"type": "t", "text": "Pavel V Ershov, Evgeniy Yablokov, Victor Zgoda, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A new insight into subinteractomes of functional antagonists: Thromboxane (CYP5A1) and prostacyclin (CYP8A1) synthases."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cell Biol Int (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/cbin.11564"}], "href": "https://doi.org/10.1002/cbin.11564"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "33527589"}], "href": "https://pubmed.ncbi.nlm.nih.gov/33527589"}]}, {"type": "r", "ref": 20, "children": [{"type": "t", "text": "Jie Peng, Fanghong Lu, Ming Zhong, et al. "}, {"type": "b", "children": [{"type": "t", "text": "TBXAS1 Gene Polymorphism Is Associated with the Risk of Ischemic Stroke of Metabolic Syndrome in a Chinese Han Population."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Dis Markers (2022)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1155/2022/9717510"}], "href": "https://doi.org/10.1155/2022/9717510"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "35923246"}], "href": "https://pubmed.ncbi.nlm.nih.gov/35923246"}]}, {"type": "r", "ref": 21, "children": [{"type": "t", "text": "D F Mesitskaia, Iu M Nikitina, F Iu Kopylov, et al. "}, {"type": "b", "children": [{"type": "t", "text": "[CLINICAL AND PHARMACOLOGICAL FACTORS INFLUENCING RESISTANCE TO CLOPIDOGREL IN PATIENTS WITH CARDIOVASCULAR DISEASES]."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Klin Med (Mosk) (2015)"}]}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26117917"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26117917"}]}, {"type": "r", "ref": 22, "children": [{"type": "t", "text": "F Yu Kopylov, D F Mesitskaya, Yu M Nikitina, et al. "}, {"type": "b", "children": [{"type": "t", "text": "[Positive effect of low-activity thromboxane A synthase gene on prognosis in coronary heart disease]."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Ter Arkh (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.17116/terarkh201587359-65"}], "href": "https://doi.org/10.17116/terarkh201587359-65"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26027242"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26027242"}]}, {"type": "r", "ref": 23, "children": [{"type": "t", "text": "Bao-zhu Wang, Yi-tong Ma, Zhen-yan Fu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "[Association of the Pro1770Leu polymorphism in CYP5A1 gene with myocardial infarction in Uigur population of Xinjiang]."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Zhonghua Yi Xue Yi Chuan Xue Za Zhi (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.3760/cma.j.issn.1003-9406.2010.05.013"}], "href": "https://doi.org/10.3760/cma.j.issn.1003-9406.2010.05.013"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20931532"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20931532"}]}, {"type": "r", "ref": 24, "children": [{"type": "t", "text": "Lin Han, Guizhi Mao, Ying Chen, et al. "}, {"type": "b", "children": [{"type": "t", "text": "[Association of single nucleotide polymorphisms of cytochrome P450 gene with susceptibility to gout in ethnic Han males from coastal regions of Shandong province]."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Zhonghua Yi Xue Yi Chuan Xue Za Zhi (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.3760/cma.j.issn.1003-9406.2015.04.020"}], "href": "https://doi.org/10.3760/cma.j.issn.1003-9406.2015.04.020"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26252103"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26252103"}]}, {"type": "r", "ref": 25, "children": [{"type": "t", "text": "Maria Kimouli, Viktoras Gourvas, Xanthippi Konstantoudaki, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The effect of an exon 12 polymorphism of the human thromboxane synthase (CYP5A1) gene in stroke patients."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Med Sci Monit (2009)"}]}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19114962"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19114962"}]}, {"type": "r", "ref": 26, "children": [{"type": "t", "text": "Kyungtaek Park, Ah Ra Do, Yuree Chung, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Genome-wide association study implicates the role of TBXAS1 in the pathogenesis of depressive symptoms among the Korean population."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Transl Psychiatry (2024)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/s41398-024-02777-3"}], "href": "https://doi.org/10.1038/s41398-024-02777-3"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "38320993"}], "href": "https://pubmed.ncbi.nlm.nih.gov/38320993"}]}]}]}
Synonyms	BDPLT14, GHOSAL, TXAS, TXS, CYP5, THAS, CYP5A1
Proteins	THAS_HUMAN
NCBI Gene ID	6916
API
Download Associations
Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

TBXAS1 has 6,067 functional associations with biological entities spanning 9 categories (molecular profile, organism, functional term, phrase or reference, chemical, disease, phenotype or trait, structural feature, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 134 datasets.

Click the + buttons to view associations for TBXAS1 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

TBXAS1 Gene

Functional Associations

Please acknowledge the Harmonizome in your publications by citing the following reference(s):

	Dataset	Summary
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of TBXAS1 gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles	tissues with high or low expression of TBXAS1 gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles	tissue samples with high or low expression of TBXAS1 gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray	tissue samples with high or low expression of TBXAS1 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq	tissue samples with high or low expression of TBXAS1 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset.
	Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of TBXAS1 gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	Biocarta Pathways	pathways involving TBXAS1 protein from the Biocarta Pathways dataset.
	BioGPS Cell Line Gene Expression Profiles	cell lines with high or low expression of TBXAS1 gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of TBXAS1 gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
	Carcinogenome Chemical Perturbation Carcinogenicity Signatures	small molecule perturbations changing expression of TBXAS1 gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of TBXAS1 gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
	CCLE Cell Line Gene Expression Profiles	cell lines with high or low expression of TBXAS1 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with TBXAS1 gene from the CellMarker Gene-Cell Type Associations dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of TBXAS1 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of TBXAS1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
	ChEA Transcription Factor Targets 2022	transcription factors binding the promoter of TBXAS1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	ClinVar Gene-Phenotype Associations 2025	phenotypes associated with TBXAS1 gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of TBXAS1 gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing TBXAS1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing TBXAS1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores	cellular components containing TBXAS1 protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores 2025	cellular components containing TBXAS1 protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with TBXAS1 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025	cellular components co-occuring with TBXAS1 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	COSMIC Cell Line Gene CNV Profiles	cell lines with high or low copy number of TBXAS1 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with TBXAS1 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with TBXAS1 gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with TBXAS1 gene/protein from the curated CTD Gene-Disease Associations dataset.
	dbGAP Gene-Trait Associations	traits associated with TBXAS1 gene in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by TBXAS1 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores 2025	diseases involving TBXAS1 gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores	diseases associated with TBXAS1 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores 2025	diseases associated with TBXAS1 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with TBXAS1 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	diseases co-occuring with TBXAS1 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
	DisGeNET Gene-Disease Associations	diseases associated with TBXAS1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with TBXAS1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
	DrugBank Drug Targets	interacting drugs for TBXAS1 protein from the curated DrugBank Drug Targets dataset.
	ENCODE Histone Modification Site Profiles	histone modification site profiles with high histone modification abundance at TBXAS1 gene from the ENCODE Histone Modification Site Profiles dataset.
	ENCODE Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of TBXAS1 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.