PTGDS: Prostaglandin D2 Synthase
Key enzyme in prostaglandin D2 biosynthesis, involved in sleep regulation, inflammation, and cancer
Gene Information Card
| Symbol | PTGDS |
|---|---|
| Full Name | Prostaglandin D2 Synthase |
| Gene Type | protein-coding |
| Chromosomal Location | 9q34.3 |
| NCBI Gene ID | 5730 ncbi.nlm.nih.gov/gene/5730 |
| Ensembl ID | ENSG00000107331 |
| UniProt ID | P41222 |
| OMIM ID | 176803 |
| HGNC ID | 9592 |
| Aliases | L-PGDS, PGD2 synthase, lipocalin-type prostaglandin D synthase, beta-trace protein |
Description
PTGDS encodes the lipocalin-type prostaglandin D synthase (L-PGDS), an enzyme that catalyzes the isomerization of prostaglandin H2 (PGH2) to prostaglandin D2 (PGD2). PGD2 is a major prostanoid involved in sleep regulation, allergic inflammation, and pain perception. The protein is also known as beta-trace protein, a major constituent of cerebrospinal fluid. PTGDS is expressed in various tissues including brain, heart, and adipose tissue, and its dysregulation is linked to neurological disorders, asthma, and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Asthma | PTGDS overexpression leads to increased PGD2, promoting Th2 inflammation and bronchoconstriction | ClinVar, NCBI |
| Allergic rhinitis | PGD2 from mast cells and PTGDS-expressing cells drives nasal inflammation | NCBI, OMIM |
| Sleep disorders | PTGDS-derived PGD2 modulates sleep-wake cycles via DP1 receptor in the brain | NCBI, OMIM |
| Glioblastoma | PTGDS upregulation in glioma cells promotes tumor growth and immune evasion | COSMIC, NCBI |
| Prostate cancer | Altered PTGDS expression linked to tumor progression and metastasis | COSMIC, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 45.2 | High |
| Heart | 12.8 | Medium |
| Adipose tissue | 8.5 | Medium |
| Lung | 3.1 | Low |
| Liver | 1.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 22.4 | High expression in embryonic kidney cells |
| SH-SY5Y | 18.7 | Neuroblastoma cell line, high expression |
| A549 | 5.3 | Lung carcinoma, moderate expression |
| MCF7 | 2.1 | Breast cancer, low expression |
| HepG2 | 0.8 | Hepatocellular carcinoma, very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.95C>T (p.Ala32Val) | Missense | Rare | Reduced enzyme activity, associated with altered PGD2 levels |
| c.374G>A (p.Arg125His) | Missense | Rare | Impaired catalytic function, linked to neurological symptoms |
| c.1A>G (p.Met1?) | Start loss | Very rare | Loss of protein expression, potential null allele |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., p.Ala32Val, p.Arg125His) reduce or abolish PGD2 synthase activity, leading to decreased PGD2 production.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in PTGDS.
Dominant Negative (DN)
No evidence of dominant-negative effects for PTGDS mutations.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Arachidonic acid metabolism (Reactome: R-HSA-2142753)
• Prostanoid biosynthesis (KEGG: hsa00590)
• Prostaglandin synthesis and regulation (WikiPathways: WP98)
Protein Summary
PTGDS encodes lipocalin-type prostaglandin D synthase (L-PGDS), a 190-amino acid protein that converts PGH2 to PGD2. It is a member of the lipocalin family and functions as a transporter of small lipophilic molecules. The protein is secreted into cerebrospinal fluid, plasma, and urine, where it acts as a biomarker for neurological and renal diseases. L-PGDS also has chaperone-like activity and is involved in adipocyte differentiation and insulin sensitivity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PTGDS Knockout HEK293 Cell Line | EDJ-KQ5581 | Human | 5730 | Details Get a Quote |
| PTGDS Knockout HeLa Cell Line | EDJ-KQ54255 | Human | 5730 | Details Get a Quote |
| PTGDS Knockout A-549 Cell Line | EDJ-KQ62746 | Human | 5730 | Details Get a Quote |
| PTGDS Knockout HCT 116 Cell Line | EDJ-KQ71215 | Human | 5730 | Details Get a Quote |
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