Home > Gene Browser > PTGDR2

PTGDR2

Synonyms
CD294, CRTH2, DL1R, DP2, GPR44
External resources
Summary
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.

Variant counts

Variant classification counts according to ACMG guideline on all identified variants among our tested samples are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
5
Likely pathogenic
8
VUS
1,089
Likely benign
346
Benign
0

Patient phenotypes

Proportions of phenotypes among 12 patients carring pathogenic or likely pathogenic variants on PTGDR2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
75%
Abnormality of the musculoskeletal system
50%
Abnormality of head or neck
41.7%
Abnormality of the eye
33.3%
Abnormality of limbs
25%
Abnormality of the respiratory system
25%
Abnormality of the digestive system
16.7%
Abnormality of the ear
16.7%
Abnormality of blood and blood-forming tissues
8.3%
Abnormality of the cardiovascular system
8.3%
Abnormality of the immune system
8.3%
Abnormality of the integument
8.3%
Growth abnormality
8.3%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the genitourinary system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

Have a question or need assistance? Ask here.

Send us your questions or comments related to the variant counts and/or patient phenotypes