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.

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.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			27	3		30
nonsense						0
start loss						0
frameshift					1	1
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	27	3	1

Variants in PTGDR2

This is a list of pathogenic ClinVar variants found in the PTGDR2 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
11-60852612-C-G		not specified	Uncertain significance (Mar 28, 2023)
11-60852637-T-G		not specified	Uncertain significance (Nov 19, 2022)
11-60852647-C-A		not specified	Uncertain significance (Jul 22, 2024)
11-60852687-A-T		not specified	Uncertain significance (Nov 07, 2022)
11-60852722-C-T		not specified	Uncertain significance (Dec 05, 2022)
11-60852729-C-G		not specified	Uncertain significance (Dec 26, 2023)
11-60852744-G-T		not specified	Uncertain significance (Oct 03, 2024)
11-60852758-A-G		not specified	Uncertain significance (Jan 10, 2022)
11-60852774-G-A		not specified	Uncertain significance (Aug 17, 2022)
11-60852801-A-C		not specified	Uncertain significance (Dec 14, 2021)
11-60852801-A-G		not specified	Uncertain significance (Apr 25, 2023)
11-60852830-A-G		not specified	Uncertain significance (Sep 09, 2024)
11-60852872-C-T		not specified	Uncertain significance (Aug 07, 2024)
11-60852882-G-A			Likely benign (Jun 29, 2018)
11-60852899-T-C		not specified	Uncertain significance (May 23, 2023)
11-60852911-C-T		not specified	Uncertain significance (Aug 12, 2024)
11-60852934-G-T		not specified	Uncertain significance (Feb 12, 2024)
11-60852958-G-T		not specified	Uncertain significance (Jan 23, 2023)
11-60852983-A-G		not specified	Uncertain significance (Jul 12, 2023)
11-60853028-C-A		not specified	Uncertain significance (Aug 04, 2023)
11-60853095-T-C		not specified	Uncertain significance (Jan 17, 2024)
11-60853164-G-C		not specified	Uncertain significance (Jan 03, 2024)
11-60853182-T-C		not specified	Uncertain significance (Mar 27, 2023)
11-60853188-G-T		not specified	Uncertain significance (Aug 20, 2024)
11-60853269-A-C		not specified	Uncertain significance (Feb 17, 2022)

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