FPR2
protein-codingformyl peptide receptor 2, the group of Formyl peptide receptors|Leukotriene receptors
Gene summary
Enables amyloid-beta binding activity; scavenger receptor binding activity; and signaling receptor activity. Involved in several processes, including cellular response to amyloid-beta; positive regulation of ERK1 and ERK2 cascade; and regulation of defense response. Located in cytoplasm and plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]
- FPRL1
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~18.5 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to FPR2 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_001005738.2. Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 1 | 1 | ||||
| missense | 41 | 3 | 44 | |||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 41 | 4 | 0 | 45 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_001005738.1 | 1 | MANE Select | |
| Ensembl | ENSP00000340191.4 | 1 | MANE Select | |
| RefSeq | NP_001453.1 | 1 | Standard | |
| Ensembl | ENSP00000468897.1 | 1 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- Staphylococcus aureus infection - Homo sapiens (human)
- Neuroactive ligand-receptor interaction - Homo sapiens (human)
- Peptide GPCRs
- GPCRs, Class A Rhodopsin-like
- Signaling by GPCR
Biological Process
- microglial cell activation
- positive regulation of protein phosphorylation
- complement receptor mediated signaling pathway
- receptor-mediated endocytosis
- chemotaxis
Molecular Function
- amyloid-beta binding
- G protein-coupled receptor activity
- N-formyl peptide receptor activity
- scavenger receptor binding
- cargo receptor activity
Cellular Component
- cytoplasm
- plasma membrane
- integral component of membrane
- specific granule membrane
- tertiary granule membrane
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000598776
- Coding exons
- 1
- Length
- 18501
- Individuals with no LoFs
- 123252
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 1
- Defined
- 123253
- p
- 0.00000406
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 0.608 | 168 | 192 | 0.877 | 0.0000109 | 2275 |
| Missense (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 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0 | 0.0 | absent |
| Latino/Admixed American | 0 | 0.0 | absent |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0 | 0.0 | absent |
| Finnish | 0 | 0.0 | absent |
| European (Non-Finnish) | 0 | 0.0 | absent |
| South Asian | 0.000033 | 0.000033 | rare |
| Other | 0 | 0.0 | absent |
dbNSFP Gene Annotations
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).;
Recessive Scores
- pRec
- 0.221
Intolerance Scores
- LoFtool
- 0.532
- RVIS EVS
- -0.31
- RVIS percentile EVS
- 31.93
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- N
- Indispensability score
- 0.129
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |