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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 encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009] See more...
Aliases for TBXA2R Gene
Aliases for TBXA2R Gene
External Ids for TBXA2R Gene
- HGNC: 11608
- NCBI Entrez Gene: 6915
- Ensembl: ENSG00000006638
- OMIM®: 188070
- UniProtKB/Swiss-Prot: P21731
Previous GeneCards Identifiers for TBXA2R Gene
- GC19M003687
- GC19M003664
- GC19M003534
- GC19M003545
- GC19M003359
Summaries for TBXA2R Gene
-
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]
GeneCards Summary for TBXA2R Gene
TBXA2R (Thromboxane A2 Receptor) is a Protein Coding gene. Diseases associated with TBXA2R include Bleeding Disorder, Platelet-Type, 13 and Phenytoin Allergy. Among its related pathways are Peptide ligand-binding receptors and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include G protein-coupled receptor activity and thromboxane receptor activity. An important paralog of this gene is PTGER1.
UniProtKB/Swiss-Prot Summary for TBXA2R Gene
-
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 to glomerular TP receptors causes intense vasoconstriction. Activates phospholipase C. Isoform 1 activates adenylyl cyclase. Isoform 2 inhibits adenylyl cyclase.
-
Prostanoid receptors are activated by the endogenous ligands prostaglandin (PG) D2, PGE2, PGF2alpha, PGH2, prostacyclin (PGI2) and thromboxane A2. Cyclooxygenase (COX) converts arachidonic acid to PGH2, from which the other prostaglandins are synthesized.
Additional gene information for TBXA2R Gene
- HGNC (11608)
- NCBI Entrez Gene (6915)
- Ensembl (ENSG00000006638)
- OMIM® (188070)
- UniProtKB/Swiss-Prot (P21731)
- Open Targets Platform(ENSG00000006638)
- Monarch Initiative
- Alliance of Genome Resources
- Search for TBXA2R at DataMed
- Search for TBXA2R at HumanCyc
No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TBXA2R Gene
Genomics for TBXA2R Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for TBXA2R Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around TBXA2R on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TBXA2R
- Top Transcription factor binding sites by QIAGEN in the TBXA2R gene promoter:
-
- CREB
- deltaCREB
- HEN1
- LCR-F1
- Meis-1a
- PPAR-alpha
- PPAR-gamma1
- PPAR-gamma2
Genomic Locations for TBXA2R Gene
Latest Assembly
- chr19:3,594,507-3,608,749
- (GRCh38/hg38)
- Size:
- 14,243 bases
- Orientation:
- Minus strand
Previous Assembly
- chr19:3,594,505-3,606,873
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 12,369 bases
- Orientation:
- Minus strand
Genomic View for TBXA2R Gene
Genes around TBXA2R on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 19p13.3 by HGNC
- 19p13.3 by Entrez Gene
- 19p13.3 by Ensembl
TBXA2R Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for TBXA2R Gene
Proteins for TBXA2R Gene
-
Protein details for TBXA2R Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P21731-TA2R_HUMAN
- Recommended name:
- Thromboxane A2 receptor
- Protein Accession:
- P21731
- O75228
- Q6DK52
- Q9UCY1
- Q9UCY2
Protein attributes for TBXA2R Gene
- Size:
- 343 amino acids
- Molecular mass:
- 37431 Da
- Quaternary structure:
-
- Interacts with RPGRIP1L. Interacts with PSMA3. Interacts with RACK1; the interaction regulates TBXA2R cell surface expression.
- SequenceCaution:
-
- Sequence=AAA58957.1; Type=Frameshift; Evidence={ECO:0000305};
Protein Expression for TBXA2R Gene
Post-translational modifications for TBXA2R Gene
Other Protein References for TBXA2R Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
- LifeSpan BioSciences Thromboxane A2 Receptor Antibody (LS-B4842) and Thromboxane A2 Receptor Antibody (LS-A1278)
- G Biosciences Immunotag™ TAS2R Antibody
- GeneTex Anti-TXA2R antibody [N1], N-term
- Novus Biologicals Antibodies for TBXA2R
-
Abcam antibodies for TBXA2R
- Invitrogen Antibodies for TBXA2R (AFLGC-TBXA2R)
-
Boster Bio Antibodies for TBXA2R
-
Custom Antibody ServicesProSci Antibodies for TBXA2R
-
Santa Cruz Biotechnology (SCBT) Antibodies for TBXA2R
Protein products for research
-
OriGene Purified Proteins for TBXA2R
- Search Origene for MassSpec and Protein Over-expression Lysates for TBXA2R
- Origene Custom Protein Services for TBXA2R
- antibodies-online: Show 4 available TBXA2R Proteins ranked by validation data
- Compare Top TBXA2R Proteins
-
Quality Products:
Assay products for research
- antibodies-online: Show 23 available TBXA2R Elisa Kits ranked by validation data
- Compare Top TBXA2R Elisa Kits
-
Quality Products:
No data available for DME Specific Peptides for TBXA2R Gene
Domains & Families for TBXA2R Gene
Gene Families for TBXA2R Gene
- HGNC:
- IUPHAR :
- Human Protein Atlas (HPA):
-
- Disease related genes
- FDA approved drug targets
- G-protein coupled receptors
- Predicted membrane proteins
Protein Domains for TBXA2R Gene
- InterPro:
- Blocks:
-
- Thromboxane receptor signature
Suggested Antigen Peptide Sequences for TBXA2R Gene
- GenScript: Design optimal peptide antigens:
-
- TBXA2R protein (Q05C92_HUMAN)
- TBXA2R protein (Q0VAA9_HUMAN)
- TBXA2R protein (Q0VAB0_HUMAN)
- Prostanoid TP receptor (TA2R_HUMAN)
Graphical View of Domain Structure for InterPro Entry
P21731- Family:
-
- Belongs to the G-protein coupled receptor 1 family.
Function for TBXA2R Gene
Molecular function for TBXA2R Gene
- UniProtKB/Swiss-Prot 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 to glomerular TP receptors causes intense vasoconstriction. Activates phospholipase C. Isoform 1 activates adenylyl cyclase. Isoform 2 inhibits adenylyl cyclase.
- GENATLAS Biochemistry:
- thromboxane A2 receptor (platelet,placenta,lung,megakaryocyte), G protein coupled receptor superfamily
Phenotypes From GWAS Catalog for TBXA2R Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004930 | G protein-coupled receptor activity | IEA | -- |
| GO:0004960 | thromboxane receptor activity | IEA | -- |
| GO:0004961 | thromboxane A2 receptor activity | TAS,IBA | 21873635 |
| GO:0005085 | guanyl-nucleotide exchange factor activity | TAS | -- |
| GO:0005515 | protein binding | IPI | 17644091 |
Phenotypes for TBXA2R Gene
- MGI mutant phenotypes for TBXA2R:
- inferred from 3 alleles
- GenomeRNAi human phenotypes for TBXA2R:
Animal Models for TBXA2R Gene
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for TBXA2R - Starting at $85 >
- * TBXA2R CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for TBXA2R
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for TBXA2R
-
Santa Cruz Biotechnology (SCBT) CRISPR for TBXA2R
miRNA for TBXA2R Gene
- miRTarBase miRNAs that target TBXA2R
-
- hsa-miR-124-3p (MIRT022135)
- hsa-miR-31-5p (MIRT054726)
- hsa-miR-665 (MIRT466501)
- hsa-miR-566 (MIRT466502)
- hsa-miR-6513-5p (MIRT466503)
- hsa-miR-887-5p (MIRT466504)
- hsa-miR-3913-5p (MIRT466505)
- hsa-miR-3122 (MIRT466506)
- hsa-miR-450a-1-3p (MIRT466507)
- hsa-miR-6780a-5p (MIRT466508)
- hsa-miR-6779-5p (MIRT466509)
- hsa-miR-3689c (MIRT466510)
- hsa-miR-3689b-3p (MIRT466511)
- hsa-miR-3689a-3p (MIRT466512)
- hsa-miR-30b-3p (MIRT466513)
- hsa-miR-1273h-5p (MIRT466514)
- hsa-miR-6788-5p (MIRT466515)
- hsa-miR-30c-2-3p (MIRT466516)
- hsa-miR-30c-1-3p (MIRT466517)
- hsa-miR-6514-3p (MIRT466518)
- hsa-miR-7977 (MIRT466519)
- hsa-miR-1206 (MIRT466520)
- hsa-miR-203a-5p (MIRT466521)
- hsa-miR-6799-5p (MIRT466522)
- hsa-miR-6883-5p (MIRT466523)
- hsa-miR-6785-5p (MIRT466524)
- hsa-miR-4728-5p (MIRT466525)
- hsa-miR-149-3p (MIRT466526)
- hsa-miR-7106-5p (MIRT466527)
- hsa-miR-7160-5p (MIRT466528)
- hsa-miR-6811-3p (MIRT466529)
- hsa-miR-214-5p (MIRT466530)
- hsa-miR-6884-5p (MIRT466531)
- hsa-miR-485-5p (MIRT466532)
- hsa-miR-4679 (MIRT466533)
- hsa-miR-383-3p (MIRT466534)
- hsa-miR-4478 (MIRT466535)
- hsa-miR-4419b (MIRT466536)
- hsa-miR-3929 (MIRT466537)
- hsa-miR-3680-3p (MIRT639342)
- hsa-miR-557 (MIRT639343)
- hsa-miR-507 (MIRT639344)
- hsa-miR-450b-5p (MIRT639345)
- hsa-miR-6809-3p (MIRT639346)
- hsa-miR-6833-3p (MIRT639347)
- hsa-miR-4768-5p (MIRT639348)
- hsa-miR-4753-3p (MIRT639349)
- hsa-miR-3191-5p (MIRT639350)
- hsa-miR-6873-3p (MIRT639351)
- hsa-miR-3140-3p (MIRT639352)
- hsa-miR-130b-5p (MIRT639353)
- hsa-miR-6817-3p (MIRT639354)
- hsa-miR-7110-3p (MIRT639355)
- hsa-miR-4665-5p (MIRT684242)
- hsa-miR-1275 (MIRT684243)
- hsa-miR-6720-5p (MIRT684244)
- hsa-miR-6512-3p (MIRT684245)
- hsa-miR-5010-5p (MIRT684246)
- hsa-miR-4525 (MIRT684247)
- hsa-miR-7111-5p (MIRT684248)
- hsa-miR-6870-5p (MIRT684249)
- hsa-miR-5698 (MIRT684250)
- hsa-miR-4723-5p (MIRT684251)
- hsa-miR-625-5p (MIRT684252)
- hsa-miR-661 (MIRT684253)
- hsa-miR-4696 (MIRT684254)
- hsa-miR-637 (MIRT684255)
- hsa-miR-766-3p (MIRT684256)
- hsa-miR-6852-5p (MIRT684257)
- hsa-miR-6827-3p (MIRT684258)
- hsa-miR-340-3p (MIRT684259)
- hsa-miR-6849-3p (MIRT684260)
- hsa-miR-6501-3p (MIRT684261)
- hsa-miR-451b (MIRT684262)
- hsa-miR-508-5p (MIRT684263)
- hsa-miR-4432 (MIRT684264)
- hsa-miR-1471 (MIRT762741)
- hsa-miR-4787-3p (MIRT772342)
- hsa-miR-5089-5p (MIRT773247)
- hsa-miR-619-5p (MIRT776060)
- hsa-miR-6504-3p (MIRT776587)
- hsa-miR-6506-5p (MIRT776609)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for TBXA2R
- Browse OriGene Inhibitory RNA Products For TBXA2R
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TBXA2R
Clone products for research
- Applied Biological Materials (abm): Clones for TBXA2R - Starting at $45 >
- * TBXA2R as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
-
- MG225604
- MR225604
- MR225604L3
- MR225604L4
- MR229347
- RC218915
- RC218915L1
- RC218915L2
- RC218915L3
- RC218915L4
- RC229197
- RC229197L3
- RC229197L4
- RG218915
- RG229197
- RR211531
- RR211531L3
- RR211531L4
- MR225604L3V
- MR225604L4V
- RC218915L1V
- RC218915L2V
- RC218915L3V
- RC218915L4V
- RC229197L3V
- RC229197L4V
- RR211531L3V
- RR211531L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for TBXA2R
- Addgene plasmids for TBXA2R
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for TBXA2R
Cell Lines for research
-
Horizon Cell Lines for TBXA2R
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for TBXA2R Gene
Localization for TBXA2R Gene
Subcellular locations from UniProtKB/Swiss-Prot for TBXA2R Gene
- Cell membrane. Multi-pass membrane protein.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| nucleus | 4 |
| extracellular | 2 |
| cytoskeleton | 2 |
| cytosol | 2 |
| mitochondrion | 1 |
| peroxisome | 1 |
| endoplasmic reticulum | 1 |
| endosome | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
- Plasma membrane (3)
- Nuclear speckles (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001669 | acrosomal vesicle | IEA | -- |
| GO:0005886 | plasma membrane | TAS | -- |
| GO:0005887 | integral component of plasma membrane | TAS | 1825698 |
| GO:0016020 | membrane | IEA | -- |
| GO:0016021 | integral component of membrane | IEA | -- |
Pathways & Interactions for TBXA2R Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Peptide ligand-binding receptors | ||
| 2 | Eicosanoid ligand-binding receptors | ||
| 3 | Signaling by GPCR | ||
| 4 | RET signaling | ||
| 5 | Response to elevated platelet cytosolic Ca2+ |
.44
|
|
Pathways by source for TBXA2R Gene
2 BioSystems pathways for TBXA2R Gene
14 Reactome pathways for TBXA2R Gene
3 PharmGKB pathways for TBXA2R Gene
3 KEGG pathways for TBXA2R Gene
1 GeneGo (Thomson Reuters) pathway for TBXA2R Gene
- Cell adhesion Integrin inside-out signaling
1 Qiagen pathway for TBXA2R Gene
- G12-G13 in Cellular Signaling
Interacting Proteins for TBXA2R Gene
Selected Interacting proteins:
P21731-TA2R_HUMAN
ENSP00000393333
for TBXA2R Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for TBXA2R
SIGNOR curated interactions for TBXA2R Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006954 | inflammatory response | IEA,IBA | 21873635 |
| GO:0007165 | signal transduction | IEA | -- |
| GO:0007186 | G protein-coupled receptor signaling pathway | TAS | -- |
| GO:0007189 | adenylate cyclase-activating G protein-coupled receptor signaling pathway | IBA | 21873635 |
| GO:0007204 | positive regulation of cytosolic calcium ion concentration | IEA,IBA | 21873635 |
Drugs & Compounds for TBXA2R Gene
(79) Drugs for TBXA2R Gene - From: DrugBank, PharmGKB, ApexBio, DGIdb, IUPHAR, HMDB, Tocris, and Novoseek
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Iloprost | Approved, Investigational | Pharma | Agonist, Full agonist | Prostacyclin (PGI2) analog, Others | 97 | |
| Aspirin | Approved, Vet_approved | Pharma | 1600 | |||
| Dinoprostone | Approved | Pharma | activates the PGE2 receptor, Major endogenous prostanoid | 150 | ||
| Ridogrel | Experimental | Pharma | Target, antagonist | 0 | ||
| Seratrodast | Experimental | Pharma | Target, antagonist | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| GR 32191 |
|
Antagonist |
|
|||
| Thromboxane |
|
66719-58-2 | ||||
| Thromboxane A2 |
|
57576-52-0 | ||||
| AGN192093 |
|
Agonist |
|
|
||
| CTA<sub>2</sub> |
|
Agonist, Full agonist |
|
(5) Tocris Compounds for TBXA2R Gene
| Compound | Action | Cas Number |
|---|---|---|
| (+-)-Cloprostenol sodium salt | Water-soluble PGF2alpha analog and potent FP receptor agonist | 55028-72-3 |
| BMY 45778 | Non-prostanoid prostacyclin IP receptor partial agonist | 152575-66-1 |
| Iloprost | Prostacyclin (PGI2) analog | 78919-13-8 |
| Prostaglandin E2 | Major endogenous prostanoid | 363-24-6 |
| U 46619 | Potent, stable thromboxane A2 (TP) receptor agonist | 56985-40-1 |
(1) ApexBio Compounds for TBXA2R Gene
| Compound | Action | Cas Number |
|---|---|---|
| Ozagrel HCl | 78712-43-3 |
Transcripts for TBXA2R Gene
mRNA/cDNA for TBXA2R Gene
- 2 REFSEQ mRNAs :
- 9 NCBI additional mRNA sequence :
- 4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000375190 2642 nts (view in UCSC)
- ENST00000411851 1494 nts (view in UCSC)
- ENST00000587717 470 nts (view in UCSC)
- ENST00000589966 1814 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for TBXA2R - Starting at $85 >
- * TBXA2R CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for TBXA2R
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for TBXA2R
-
Santa Cruz Biotechnology (SCBT) CRISPR for TBXA2R
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for TBXA2R
- Browse OriGene Inhibitory RNA Products For TBXA2R
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TBXA2R
Clone products for research
- Applied Biological Materials (abm): Clones for TBXA2R - Starting at $45 >
- * TBXA2R as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
-
- MG225604
- MR225604
- MR225604L3
- MR225604L4
- MR229347
- RC218915
- RC218915L1
- RC218915L2
- RC218915L3
- RC218915L4
- RC229197
- RC229197L3
- RC229197L4
- RG218915
- RG229197
- RR211531
- RR211531L3
- RR211531L4
- MR225604L3V
- MR225604L4V
- RC218915L1V
- RC218915L2V
- RC218915L3V
- RC218915L4V
- RC229197L3V
- RC229197L4V
- RR211531L3V
- RR211531L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for TBXA2R
- Addgene plasmids for TBXA2R
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for TBXA2R
Relevant External Links for TBXA2R Gene
- GeneLoc Exon Structure for
- TBXA2R
Expression for TBXA2R Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Heart (Cardiovascular System)
mRNA differential expression in normal tissues according to GTEx for TBXA2R Gene
This gene is overexpressed in Artery - Aorta (x8.3), Artery - Tibial (x7.9), and Artery - Coronary (x6.7).
This gene is overexpressed in Platelet (61.8) and Peripheral blood mononuclear cells (6.4).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for TBXA2R Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TBXA2R
SOURCE GeneReport for Unigene cluster for TBXA2R Gene:
Hs.442530Evidence on tissue expression from TISSUES for TBXA2R Gene
- Blood(4.5)
- Heart(4.3)
- Lung(4.3)
- Liver(4.3)
Phenotype-based relationships between genes and organs from Gene ORGANizer for TBXA2R Gene
Germ Layers:
- ectoderm
- mesoderm
Systems:
- cardiovascular
- integumentary
Regions:
Head and neck:
- face
- head
- nose
General:
- blood vessel
- coagulation system
- skin
Primer products for research
-
OriGene qPCR primer pairs for TBXA2R
-
OriGene qPCR primer pairs and template standards for TBXA2R
Gene Expression Assays for research
No data available for mRNA Expression by UniProt/SwissProt for TBXA2R Gene
Orthologs for TBXA2R Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | TBXA2R 29 30 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | TBXA2R 29 30 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | TBXA2R 29 30 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Tbxa2r 29 |
|
||
| Mouse (Mus musculus) |
Mammalia | Tbxa2r 29 16 30 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | TBXA2R 30 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | TBXA2R 30 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | TBXA2R 29 30 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | tbxa2r 29 |
|
||
| Str.17668 29 |
|
||||
| Zebrafish (Danio rerio) |
Actinopterygii | ptger1c 30 |
|
ManyToMany |
- Species where no ortholog for TBXA2R was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Baker's yeast (Saccharomyces cerevisiae)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Fruit Fly (Drosophila melanogaster)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Lizard (Anolis carolinensis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Squirt (Ciona savignyi)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
- Worm (Caenorhabditis elegans)
Evolution for TBXA2R Gene
- ENSEMBL:
- Gene Tree for TBXA2R (if available)
- TreeFam:
- Gene Tree for TBXA2R (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for TBXA2R: view image
- Alliance of Genome Resources:
- Additional Orthologs for TBXA2R
Paralogs for TBXA2R Gene
(6) SIMAP similar genes for TBXA2R Gene using alignment to 5 proteins:
- TA2R_HUMAN
- K7ER80_HUMAN
- Q05C92_HUMAN
- Q0VAA9_HUMAN
- Q0VAB0_HUMAN
Variants for TBXA2R Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TBXA2R Gene
| SNP ID | Clinical significance and condition | Chr 19 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1131691334 | Likely Pathogenic: not provided | 3,600,553(-) |
G/A NM_001060.5(TBXA2R):c.82C>T (p.Pro28Ser) |
MISSENSE | |
| rs1131882 | Benign: not specified | 3,595,925(-) |
G/A NM_201636.3(TBXA2R):c.795C>T (p.Ile265=) |
SYNONYMOUS | |
| rs1599869510 | Likely Pathogenic: Abnormal platelet aggregation | 3,595,935(-) |
T/C NM_001060.5(TBXA2R):c.787-2A>G |
SPLICE_ACCEPTOR | |
| rs201310328 | Uncertain Significance: Impaired thromboxane A2 agonist-induced platelet aggregation | 3,599,922(-) |
T/C NM_001060.5(TBXA2R):c.713A>G (p.Asp238Gly) |
MISSENSE | |
| rs201364793 | Uncertain Significance: Abnormal platelet aggregation | 3,595,872(-) |
G/C NM_001060.5(TBXA2R):c.848C>G (p.Ser283Cys) |
MISSENSE |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv2717950 | CNV | deletion | 23290073 |
| esv2717952 | CNV | deletion | 23290073 |
| esv2717953 | CNV | deletion | 23290073 |
| nsv470114 | CNV | loss | 18288195 |
| nsv833713 | CNV | loss | 17160897 |
| nsv953948 | CNV | deletion | 24416366 |
Residual Variation Intolerance Score:
83.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
2.80;
47.53% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for TBXA2R Gene
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TBXA2R Gene
Disorders for TBXA2R Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| bleeding disorder, platelet-type, 13 |
|
|
| phenytoin allergy |
|
|
| allergic rhinitis |
|
|
| bleeding disorder, platelet-type, 14 |
|
|
| water-clear cell adenoma |
|
|
Search TBXA2R in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
TA2R_HUMAN- Bleeding disorder, platelet-type 13 (BDPLT13) [MIM:614009]: A disorder characterized by reduced platelet aggregation and a tendency to mild mucocutaneous bleeding. {ECO:0000269 PubMed:7929844, ECO:0000269 PubMed:8613548}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
Genatlas disease for TBXA2R Gene
bleeding diathesis with platelet unresponsiveness to thromboxane A2
Additional Disease Information for TBXA2R
- Human Genome Epidemiology Navigator
- (HuGE)
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
Publications for TBXA2R Gene
- Cloning and expression of cDNA for a human thromboxane A2 receptor. (PMID: 1825698) Hirata M … Narumiya S (Nature 1991) 2 3 4 22
- A novel thromboxane A2 receptor D304N variant that abrogates ligand binding in a patient with a bleeding diathesis. (PMID: 19828703) Mumford AD … Watson SP (Blood 2010) 3 22 72
- Association of polymorphisms in thromboxane A2 receptor and thromboxane A synthase 1 with cerebral infarction in a Korean population. (PMID: 19403042) Park SA … Shin HD (BMB reports 2009) 3 22 40
- Association of thromboxane A2 receptor gene polymorphism with the phenotype of acetyl salicylic acid-intolerant asthma. (PMID: 15898979) Kim SH … Shin HD (Clinical and experimental allergy : journal of the British Society for Allergy and Clinical Immunology 2005) 3 22 40
- Two thromboxane A2 receptor isoforms in human platelets. Opposite coupling to adenylyl cyclase with different sensitivity to Arg60 to Leu mutation. (PMID: 8613548) Hirata T … Narumiya S (The Journal of clinical investigation 1996) 3 4 22
ExternalLinks
Products for TBXA2R Gene
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- Horizon Cell Lines for TBXA2R
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- Boster Bio Antibodies for TBXA2R
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Sources for TBXA2R Gene
- (1) GeneCards
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- (4) UniProtKB/Swiss-Prot
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- (6) OMIM® (Updated: 05-Apr-2021)
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