PTGDR2
Basic information
Region (hg38): 11:60850933-60855950
Previous symbols: [ "GPR44" ]
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- 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 | 60 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 1 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
Total | 0 | 0 | 57 | 3 | 1 |
GnomAD
Source:
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:
- 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