PTGDR2

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

Basic information

Region (hg38): 11:60850933-60855950

Previous symbols: [ "GPR44" ]

Links

ENSG00000183134NCBI:11251OMIM:604837HGNC:4502Uniprot:Q9Y5Y4AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

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.

EffectPLPVUSLBBSum
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

GeneTypeBio TypeTranscript Coding Exons Length
PTGDR2protein_codingprotein_codingENST00000332539 15032
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.002700.58112437113251246970.00131
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense1.561602260.7080.00001672405
Missense in Polyphen5986.9260.67873924
Synonymous1.35941120.8380.00000859897
Loss of Function0.34944.830.8292.08e-753

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.008530.00852
Ashkenazi Jewish0.000.00
East Asian0.001330.00132
Finnish0.000.00
European (Non-Finnish)0.00005700.0000534
Middle Eastern0.001330.00132
South Asian0.000.00
Other0.0009950.000984

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

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

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