PTGDR Gene - Prostaglandin D2 Receptor

GPCR for PGD2 in allergy, asthma, and immune regulation

Gene Information Card

Symbol PTGDR
Full Name prostaglandin D2 receptor
Gene Type protein-coding
Chromosomal Location 14q22.1
NCBI Gene ID 5729 ncbi.nlm.nih.gov/gene/5729
Ensembl ID ENSG00000168229
UniProt ID Q13258
OMIM ID 604687
HGNC ID 9594
Aliases DP1, DP, PTGDR1, AS1, DP receptor

Description

The PTGDR gene encodes the prostaglandin D2 receptor (DP1), a G protein-coupled receptor that binds prostaglandin D2 (PGD2). It is involved in allergic and inflammatory responses, smooth muscle contraction, and immune cell chemotaxis. Activation of DP1 leads to increased intracellular cAMP levels. The gene is expressed in various tissues including lung, placenta, and immune cells.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Asthma PTGDR variants alter receptor expression and signaling, affecting bronchoconstriction and airway inflammation. ClinVar, OMIM
Allergic rhinitis PGD2-DP1 signaling promotes Th2 inflammation and nasal congestion. NCBI Gene, OMIM
Atopic dermatitis DP1 activation in skin contributes to pruritus and inflammation. UniProt, ClinVar
Systemic mastocytosis Increased PGD2 release from mast cells activates DP1, causing flushing and hypotension. OMIM, COSMIC

Expression Profile

Tissue Expression
Tissue nTPM level
Lung 12.5 Medium
Placenta 8.3 Low
Spleen 6.1 Low
Small intestine 4.7 Low
Trachea 15.2 Medium
Bone marrow 3.9 Low
Cell Line Expression
Cell Line nTPM Notes
HEK293 0.8 Low expression
A549 2.1 Low expression
THP-1 5.4 Moderate expression
Jurkat 1.2 Low expression
HUVEC 3.0 Low expression
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.−666C>T SNP 0.15 (allele frequency) Associated with reduced promoter activity and asthma risk
c.−197T>C SNP 0.22 Alters transcription factor binding, linked to allergic rhinitis
p.Arg120Cys missense <0.01 Reduced receptor function in vitro
p.Leu251Phe missense <0.01 Impaired ligand binding
Mutation functional classification

Loss of Function (LOF)

c.−666C>T and p.Arg120Cys reduce receptor expression or signaling, associated with asthma susceptibility.

Gain of Function (GOF)

No confirmed gain-of-function mutations reported in PTGDR.

Dominant Negative (DN)

No dominant-negative mutations described for PTGDR.

Gene Ontology (GO)

• G protein-coupled receptor activity • prostaglandin D receptor activity
• prostaglandin binding • adenylate cyclase-activating G protein-coupled receptor signaling pathway
• inflammatory response • smooth muscle contraction
• chemotaxis

Pathways

• Prostanoid ligand-receptor interaction
• GPCR downstream signaling (cAMP)
• Allergic inflammation (Th2 response)

Protein Summary

The PTGDR protein (DP1 receptor) is a 359-amino-acid G protein-coupled receptor with seven transmembrane domains. It binds prostaglandin D2 with high affinity and couples primarily to Gs, increasing cAMP. DP1 is expressed on Th2 cells, eosinophils, basophils, and smooth muscle cells, mediating chemotaxis, vasodilation, and bronchoconstriction. It is a therapeutic target for allergic asthma and rhinitis.

Related Products

Product name Cat.No. Species Gene ID
PTGDR Knockout HEK293 Cell Line EDJ-KQ5582 Human 5729 Details Get a Quote
PTGDR2 Knockout HEK293 Cell Line EDJ-KQ51057 Human 11251 Details Get a Quote
PTGDR Knockout HeLa Cell Line EDJ-KQ54254 Human 5729 Details Get a Quote
PTGDR2 Knockout HeLa Cell Line EDJ-KQ55612 Human 11251 Details Get a Quote
PTGDR Knockout A-549 Cell Line EDJ-KQ62745 Human 5729 Details Get a Quote
PTGDR2 Knockout A-549 Cell Line EDJ-KQ64111 Human 11251 Details Get a Quote
PTGDR Knockout HCT 116 Cell Line EDJ-KQ71214 Human 5729 Details Get a Quote
PTGDR2 Knockout HCT 116 Cell Line EDJ-KQ72556 Human 11251 Details Get a Quote
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