TBXA2R thromboxane A2 receptor [Homo sapiens (human)] - Gene

Summary

Official Symbol: TBXA2Rprovided by HGNC
Official Full Name: thromboxane A2 receptorprovided by HGNC
Primary source: HGNC:HGNC:11608
See related: Ensembl:ENSG00000006638 MIM:188070; AllianceGenome:HGNC:11608
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: TXA2-R; BDPLT13
Summary: 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]
Expression: Broad expression in fat (RPKM 1.2), spleen (RPKM 1.2) and 20 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19p13.3

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (3594507..3606875, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (3572690..3584998, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (3594505..3606873, complement)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

In silico analysis of single nucleotide polymorphism (rs34377097) of TBXA2R gene and pollen induced bronchial asthma susceptibility in West Bengal population, India.
Title: In silico analysis of single nucleotide polymorphism (rs34377097) of TBXA2R gene and pollen induced bronchial asthma susceptibility in West Bengal population, India.
Thromboxane A2 receptor activation via Galpha13-RhoA/C-ROCK-LIMK2-dependent signal transduction inhibits angiogenic sprouting of human endothelial cells.
Title: Thromboxane A(2) receptor activation via G(α13)-RhoA/C-ROCK-LIMK2-dependent signal transduction inhibits angiogenic sprouting of human endothelial cells.
Association of TBXA2R, P2Y12 and ADD1 genes polymorphisms with ischemic stroke susceptibility: A metaanalysis.
Title: Association of TBXA2R, P2Y12 and ADD1 genes polymorphisms with ischemic stroke susceptibility: A metaanalysis.
The association between thromboxane A2 receptor gene polymorphisms and the risk of cerebral infarction.
Title: The association between thromboxane A(2) receptor gene polymorphisms and the risk of cerebral infarction.
Signal transducer and activator of transcription 3 (STAT3) phosphorylation regulates thromboxane A2 receptor activity in human platelets.
Title: Signal transducer and activator of transcription 3 (STAT3) phosphorylation regulates thromboxane A(2) receptor activity in human platelets.
Down-regulation of forkhead box protein P1 (FOXP1) increases prostanoid TP receptor beta (TPbeta) expression in THP-1 monocytes.
Title: Differential expression of the TPα and TPβ isoforms of the human T Prostanoid receptor during chronic inflammation of the prostate: Role for FOXP1 in the transcriptional regulation of TPβ during monocyte-macrophage differentiation.
the TBXA2R rs4523 G allele may contribute to protection against Kawasaki disease and decreased risk of coronary artery aneurysm complications in a southern Chinese population.
Title: TBXA2R rs4523 G allele is associated with decreased susceptibility to Kawasaki disease.
high-risk gene-gene interactions among TXA2R rs1131882, P2Y1 rs1371097 and GPIIIa rs2317676 were associated with higher platelet activation, and independently associated with higher risk of carotid stenosis in ischemic stroke patients.
Title: The TXA2R rs1131882, P2Y1 rs1371097 and GPIIIa rs2317676 three-loci interactions may increase the risk of carotid stenosis in patients with ischemic stroke.
Differential TBXA2 receptor transcript stability is dependent on the C924T polymorphism
Title: Differential TBXA2 receptor transcript stability is dependent on the C924T polymorphism.
The tumour suppressors FOXP1 and NKX3.1, strongly implicated in PCa development, were identified as key transcription factors regulating TPbeta expression through Prm3 in both PCa cell lines.
Title: Regulated expression of the TPβ isoform of the human T prostanoid receptor by the tumour suppressors FOXP1 and NKX3.1: Implications for the role of thromboxane in prostate cancer.

Submit: New GeneRIF Correction See all GeneRIFs (104)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Bleeding disorder, platelet-type, 13, susceptibility to MedGen: C3279614 OMIM: 614009 GeneReviews: Not available	not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	HIV-1 clade B gp120 induces higher levels of expression of the neuropathogenic molecule cyclooxygenase-2 (COX-2)-mediated arachidonic acid by-products, prostaglandin E2 (PGE2) and thromboxane A2 receptor (TBXA2R) compared to clade C gp120	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

L17688 (e-PCR)
- UniSTS:74509

RH80749 (e-PCR)
- UniSTS:89635

D8S2279 (e-PCR)
- UniSTS:473907

NoName (e-PCR)
- UniSTS:495159

D19S1079 (e-PCR)
- UniSTS:37719

D10S16 (e-PCR)
- UniSTS:155756

STS-AA039932 (e-PCR)
- UniSTS:34670

NoName (e-PCR)
- UniSTS:481939

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables guanyl-nucleotide exchange factor activity	TAS Traceable Author Statement more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables thromboxane A2 receptor activity	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in G protein-coupled receptor signaling pathway	TAS Traceable Author Statement more info	PubMed
involved_in adenylate cyclase-activating G protein-coupled receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in cellular response to lipopolysaccharide	IEA Inferred from Electronic Annotation more info
involved_in inflammatory response	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of cell migration involved in sprouting angiogenesis	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of angiogenesis	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of blood coagulation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of blood pressure	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of cytosolic calcium ion concentration	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of smooth muscle contraction	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of vasoconstriction	IBA Inferred from Biological aspect of Ancestor more info
involved_in response to ethanol	IEA Inferred from Electronic Annotation more info
involved_in response to nutrient	IEA Inferred from Electronic Annotation more info
involved_in response to testosterone	IEA Inferred from Electronic Annotation more info
involved_in response to xenobiotic stimulus	IEA Inferred from Electronic Annotation more info
involved_in smooth muscle contraction	IEA Inferred from Electronic Annotation more info
involved_in thromboxane A2 signaling pathway	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in acrosomal vesicle	IEA Inferred from Electronic Annotation more info
located_in nuclear speck	IDA Inferred from Direct Assay more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: thromboxane A2 receptor

Names: prostanoid TP receptor

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_013363.1 RefSeqGene

Range

5001..17328

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_578

mRNA and Protein(s)

NM_001060.6 → NP_001051.1 thromboxane A2 receptor isoform alpha

See identical proteins and their annotated locations for NP_001051.1

Status: REVIEWED

Description

Transcript Variant: This variant (a) represents the longer transcript but encodes the shorter isoform (alpha).

Source sequence(s)

AC005175, AY429110, BC028027, BC121148, BM990145

Consensus CDS

CCDS42467.1

UniProtKB/Swiss-Prot

O75228, P21731, Q6DK52, Q9UCY1, Q9UCY2

Related

ENSP00000364336.4, ENST00000375190.10

Conserved Domains (1) summary

pfam00001
Location:42 → 308

7tm_1; 7 transmembrane receptor (rhodopsin family)
NM_201636.3 → NP_963998.2 thromboxane A2 receptor isoform beta

See identical proteins and their annotated locations for NP_963998.2

Status: REVIEWED

Description

Transcript Variant: This variant (b) uses an alternate splice pattern in the 3' coding region, compared to variant a. The resulting isoform (beta) has a longer and distinct C-terminus, compared to isoform alpha. This isoform is described in PMID: 8613548.

Source sequence(s)

AC005175, AY429110, BC028027, BC121148, BM990145, U11271

Consensus CDS

CCDS54198.1

UniProtKB/Swiss-Prot

P21731

UniProtKB/TrEMBL

Q05C92, Q0VAB0

Related

ENSP00000393333.2, ENST00000411851.3

Conserved Domains (1) summary

pfam00001
Location:42 → 308

7tm_1; 7 transmembrane receptor (rhodopsin family)