PTGDR2

Chr 11

prostaglandin D2 receptor 2

Also known as: CD294, CRTH2, DL1R, DP2, GPR44

NCBI Gene: 11251 ENSG00000183134 UniProt: Q9Y5Y4

This gene encodes CRTH2, a G-protein-coupled receptor for prostaglandin D2 that mediates chemotaxis of eosinophils, basophils, and Th2 lymphocytes during allergic inflammation. The gene is not loss-of-function intolerant (pLI 0.003, LOEUF 1.7), and polymorphisms have been associated with asthma susceptibility in population studies. No Mendelian pediatric neurologic disorders have been established for this gene based on the available information.

ResearchSummary from RefSeq, UniProt

This gene encodes a G-protein-coupled receptor that is preferentially expressed in CD4+ effector T helper 2 (Th2) cells. This protein is a prostaglandin D2 receptor that mediates the pro-inflammatory chemotaxis of eosinophils, basophils, and Th2 lymphocytes generated during allergic inflammation. Single nucleotide polymorphisms in the 3' UTR of this gene have been associated with asthma susceptibility.[provided by RefSeq, Mar 2011]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.72

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.72LOEUF

pLI 0.003

Z-score 0.35

OE 0.83 (0.40–1.72)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

1.56Z-score

OE missense 0.71 (0.62–0.81)

160 obs / 226.0 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.83 (0.40–1.72)

0≤0.351.4

Missense OE?0.71 (0.62–0.81)

0≤0.61.4

Synonymous OE?0.84

0≤1.21.6

LoF obs/exp: 4 / 4.8Missense obs/exp: 160 / 226.0Syn Z: 1.35

Background carrier burden — how many people carry a rare variant somewhere in PTGDR2?

gnomAD v4 · ~730k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 110

589 rare PASS variants

Rare truncating (LoF)

1 in 980

67 rare PASS variants

Rare synonymous (reference)

1 in 85

300 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for PTGDR2. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 140	1 in 2,200
South Asian	~43k	1 in 140	1 in 680
Remaining (unassigned)	~30k	1 in 92	1 in 930
European (Finnish)	~26k	1 in 260	≈ 1 in 8,400
Admixed American	~22k	1 in 110	≈ 1 in 9,100
African / African American	~21k	1 in 130	≈ 1 in 5,700
East Asian	~20k	1 in 100	1 in 560
Ashkenazi Jewish	~13k	1 in 180	≈ 1 in 6,300
Middle Eastern	~2,884	1 in 88	1 in 420

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): All 1 coding exons well covered in gnomAD exomes and genomes.? see exons ↓