FPR3

formyl peptide receptor 3, the group of Formyl peptide receptors

Basic information

Region (hg38): 19:51795156-51826190

Previous symbols: [ "FPRL2" ]

Links

ENSG00000187474 ∙ NCBI:2359 ∙ OMIM:136539 ∙ HGNC:3828 ∙ Uniprot:P25089 ∙ 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 FPR3 gene.

• Inborn genetic diseases (11 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FPR3 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			9	2		11
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	9	2	0

Variants in FPR3

This is a list of pathogenic ClinVar variants found in the FPR3 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-51823818-G-A		not specified	Uncertain significance (Aug 08, 2022)
19-51823827-A-T		not specified	Uncertain significance (Nov 08, 2022)
19-51823848-G-A		not specified	Uncertain significance (Nov 08, 2022)
19-51823852-T-A		not specified	Uncertain significance (Oct 02, 2023)
19-51823986-T-C		not specified	Uncertain significance (Aug 19, 2023)
19-51824004-G-A		not specified	Uncertain significance (Dec 12, 2023)
19-51824026-T-C		not specified	Uncertain significance (Oct 05, 2023)
19-51824118-T-A		not specified	Uncertain significance (Nov 21, 2023)
19-51824135-T-G		not specified	Uncertain significance (Jan 30, 2024)
19-51824209-T-C		not specified	Likely benign (Feb 28, 2023)
19-51824257-C-T		not specified	Uncertain significance (Dec 15, 2023)
19-51824400-A-G		not specified	Likely benign (Jul 22, 2022)
19-51824479-C-T		not specified	Uncertain significance (Mar 14, 2023)
19-51824520-G-A		not specified	Uncertain significance (Dec 02, 2022)
19-51824568-A-T		not specified	Uncertain significance (Sep 07, 2022)
19-51824655-G-A		not specified	Uncertain significance (Sep 17, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FPR3	protein_coding	protein_coding	ENST00000339223	1	31027

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.14	158	204	0.775	0.0000111	2331
Missense in Polyphen		41	55.004	0.74539		684
Synonymous	1.62	59	77.1	0.765	0.00000424	728
Loss of Function

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish
East Asian
Finnish
European (Non-Finnish)
Middle Eastern
South Asian
Other

dbNSFP

Source: dbNSFP

• 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.
• Pathway: Staphylococcus aureus infection - Homo sapiens (human);Neuroactive ligand-receptor interaction - Homo sapiens (human);Peptide GPCRs;GPCRs, Class A Rhodopsin-like;Signaling by GPCR;Signal Transduction;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;GPCR downstream signalling;Urokinase-type plasminogen activator (uPA) and uPAR-mediated signaling (Consensus)

Recessive Scores

• pRec: 0.0834

Intolerance Scores

• loftool: 0.542
• rvis_EVS: -0.27
• rvis_percentile_EVS: 34.32

Haploinsufficiency Scores

• pHI: 0.0399
• hipred: N
• hipred_score: 0.112
• ghis: 0.448

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.151

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Fpr3
• Phenotype: hematopoietic system phenotype; digestive/alimentary phenotype; homeostasis/metabolism phenotype

Gene ontology

• Biological process: complement receptor mediated signaling pathway;chemotaxis;inflammatory response;signal transduction;G protein-coupled receptor signaling pathway;phospholipase C-activating G protein-coupled receptor signaling pathway;positive regulation of cytosolic calcium ion concentration
• Cellular component: plasma membrane;integral component of membrane
• Molecular function: G protein-coupled receptor activity;N-formyl peptide receptor activity