FPR2
formyl peptide receptor 2, the group of Formyl peptide receptors|Leukotriene receptors
Basic information
Region (hg38): 19:51752026-51770531
Previous symbols: [ "FPRL1" ]
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
- not_specified (42 variants)
- not_provided (2 variants)
- Lung_adenocarcinoma (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the FPR2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001005738.2. 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 | 1 | |||||
| missense | 41 | 43 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 41 | 3 | 0 |
Loading clinvar variants...
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| FPR2 | protein_coding | protein_coding | ENST00000598776 | 1 | 18501 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.401 | 0.480 | 123252 | 0 | 1 | 123253 | 0.00000406 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 0.608 | 168 | 192 | 0.877 | 0.0000109 | 2275 |
| Missense in Polyphen | 31 | 51.813 | 0.59831 | 722 | ||
| Synonymous | -0.754 | 85 | 76.6 | 1.11 | 0.00000413 | 768 |
| Loss of Function | 0.959 | 0 | 1.07 | 0.00 | 4.46e-8 | 15 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.00 | 0.00 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.00 | 0.00 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.00 | 0.00 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.0000332 | 0.0000332 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Low affinity receptor for N-formyl-methionyl peptides, which are powerful neutrophils chemotactic factors. Binding of FMLP to the receptor causes activation of neutrophils. This response is mediated via a G-protein that activates a phosphatidylinositol-calcium second messenger system. The activation of LXA4R could result in an anti-inflammatory outcome counteracting the actions of proinflammatory signals such as LTB4 (leukotriene B4).;
- Pathway
- Staphylococcus aureus infection - Homo sapiens (human);Neuroactive ligand-receptor interaction - Homo sapiens (human);Peptide GPCRs;GPCRs, Class A Rhodopsin-like;Signaling by GPCR;Neutrophil degranulation;Signal Transduction;Innate Immune System;Immune System;Formyl peptide receptors bind formyl peptides and many other ligands;Peptide ligand-binding receptors;Class A/1 (Rhodopsin-like receptors);GPCR ligand binding;G alpha (i) signalling events;G alpha (q) signalling events;GPCR downstream signalling;Urokinase-type plasminogen activator (uPA) and uPAR-mediated signaling
(Consensus)
Recessive Scores
- pRec
- 0.221
Intolerance Scores
- loftool
- 0.532
- rvis_EVS
- -0.31
- rvis_percentile_EVS
- 31.93
Haploinsufficiency Scores
- pHI
- 0.0678
- hipred
- N
- hipred_score
- 0.112
- ghis
- 0.546
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.129
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Fpr2
- Phenotype
- endocrine/exocrine gland phenotype; cellular phenotype; immune system phenotype; homeostasis/metabolism phenotype; respiratory system phenotype; neoplasm; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); hematopoietic system phenotype; digestive/alimentary phenotype; skeleton phenotype;
Gene ontology
- Biological process
- microglial cell activation;positive regulation of protein phosphorylation;complement receptor mediated signaling pathway;receptor-mediated endocytosis;chemotaxis;inflammatory response;cell adhesion;G protein-coupled receptor signaling pathway;adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway;phospholipase C-activating G protein-coupled receptor signaling pathway;positive regulation of cytosolic calcium ion concentration;calcium-mediated signaling;positive regulation of superoxide anion generation;neutrophil degranulation;astrocyte activation;positive chemotaxis;positive regulation of 1-phosphatidylinositol-3-kinase activity;positive regulation of ERK1 and ERK2 cascade;positive regulation of monocyte chemotaxis;cellular response to amyloid-beta
- Cellular component
- cytoplasm;plasma membrane;integral component of membrane;specific granule membrane;tertiary granule membrane;ficolin-1-rich granule membrane
- Molecular function
- amyloid-beta binding;G protein-coupled receptor activity;N-formyl peptide receptor activity;scavenger receptor binding;cargo receptor activity