PTGDR2

prostaglandin D2 receptor 2, the group of CD molecules|Prostaglandin receptors

Basic information

Region (hg38): 11:60850933-60855950

Previous symbols: [ "GPR44" ]

Links

ENSG00000183134

∙ NCBI:11251 ∙ OMIM:604837 ∙ HGNC:4502 ∙ Uniprot:Q9Y5Y4 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the PTGDR2 gene.

not_specified (59 variants)
not_provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PTGDR2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000004778.3. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			57 clinvar	3 clinvar		60
nonsense						0
start loss						0
frameshift					1 clinvar	1
splice donor/acceptor (+/-2bp)						0
Total	0	0	57	3	1

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PTGDR2	protein_coding	protein_coding	ENST00000332539	1	5032

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00270	0.581	124371	1	325	124697	0.00131

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.56	160	226	0.708	0.0000167	2405
Missense in Polyphen		59	86.926	0.67873		924
Synonymous	1.35	94	112	0.838	0.00000859	897
Loss of Function	0.349	4	4.83	0.829	2.08e-7	53

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00853	0.00852
Ashkenazi Jewish	0.00	0.00
East Asian	0.00133	0.00132
Finnish	0.00	0.00
European (Non-Finnish)	0.0000570	0.0000534
Middle Eastern	0.00133	0.00132
South Asian	0.00	0.00
Other	0.000995	0.000984

dbNSFP

Source: dbNSFP

Function: FUNCTION: Receptor for prostaglandin D2 (PGD2). Coupled to the G(i)-protein. Receptor activation may result in pertussis toxin- sensitive decreases in cAMP levels and Ca(2+) mobilization. PI3K signaling is also implicated in mediating PTGDR2 effects. PGD2 induced receptor internalization. CRTH2 internalization can be regulated by diverse kinases such as, PKC, PKA, GRK2, GPRK5/GRK5 and GRK6. Receptor activation is responsible, at least in part, in immune regulation and allergic/inflammation responses. {ECO:0000269|PubMed:11208866, ECO:0000269|PubMed:11535533, ECO:0000269|PubMed:17196174}.;
Pathway: GPCRs, Class A Rhodopsin-like;Signaling by GPCR;Signal Transduction;Prostanoid ligand receptors;Eicosanoid ligand-binding receptors;Class A/1 (Rhodopsin-like receptors);GPCR ligand binding;G alpha (i) signalling events;GPCR downstream signalling (Consensus)

Recessive Scores

pRec: 0.197

Haploinsufficiency Scores

pHI: 0.106
hipred: N
hipred_score: 0.324
ghis: 0.512

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: N
gene_indispensability_score: 0.114

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

Gene name: Ptgdr2
Phenotype: homeostasis/metabolism phenotype; immune system phenotype; hematopoietic system phenotype;

Gene ontology

Biological process: chemotaxis;immune response;G protein-coupled receptor signaling pathway;adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway;neuropeptide signaling pathway;calcium-mediated signaling;positive regulation of G protein-coupled receptor signaling pathway;negative regulation of male germ cell proliferation
Cellular component: plasma membrane;integral component of plasma membrane
Molecular function: prostaglandin J receptor activity;G protein-coupled receptor activity;prostaglandin D receptor activity;prostaglandin F receptor activity;peptide binding;neuropeptide binding