F2RL3

F2R like thrombin or trypsin receptor 3, the group of F2R receptors

Basic information

Region (hg38): 19:16888998-16892606

Links

ENSG00000127533 ∙ NCBI:9002 ∙ OMIM:602779 ∙ HGNC:3540 ∙ Uniprot:Q96RI0 ∙ 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 F2RL3 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the F2RL3 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				1	3	4
missense			31	3	1	35
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	31	4	4

Variants in F2RL3

This is a list of pathogenic ClinVar variants found in the F2RL3 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-16889193-T-C		not specified	Uncertain significance (Mar 29, 2022)
19-16889262-G-A		not specified	Likely benign (Feb 03, 2022)
19-16889642-C-T		not specified	Likely benign (Dec 08, 2021)
19-16889665-C-T		not specified	Uncertain significance (Aug 21, 2023)
19-16889686-G-A		not specified	Uncertain significance (Mar 14, 2023)
19-16889776-C-G		not specified	Uncertain significance (May 17, 2023)
19-16889785-C-T		not specified	Uncertain significance (Nov 20, 2023)
19-16889813-A-G		not specified	Uncertain significance (Oct 06, 2021)
19-16889821-G-A			Benign (Apr 19, 2019)
19-16889875-C-T		not specified	Uncertain significance (Aug 02, 2021)
19-16889878-G-A		not specified	Uncertain significance (Dec 16, 2023)
19-16889921-C-T		not specified	Uncertain significance (Jun 22, 2021)
19-16890006-G-A			Likely benign (Jul 17, 2018)
19-16890011-G-A		not specified	Uncertain significance (Jan 20, 2023)
19-16890020-C-G		not specified	Uncertain significance (Jun 11, 2024)
19-16890119-G-A		not specified	Uncertain significance (Jul 21, 2021)
19-16890122-T-G		not specified	Uncertain significance (Dec 15, 2021)
19-16890127-C-T		not specified	Uncertain significance (Jan 19, 2022)
19-16890154-G-A		not specified	Uncertain significance (Dec 21, 2022)
19-16890155-C-T		not specified	Likely benign (Aug 14, 2023)
19-16890223-T-A		not specified	Uncertain significance (Jan 26, 2022)
19-16890234-G-T			Benign (May 21, 2018)
19-16890263-C-T		not specified	Uncertain significance (Mar 07, 2023)
19-16890286-G-A		not specified	Uncertain significance (Jan 19, 2022)
19-16890312-G-C		not specified	Uncertain significance (Dec 07, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
F2RL3	protein_coding	protein_coding	ENST00000248076	2	3747

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000413	0.409	125394	0	29	125423	0.000116

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.507	232	255	0.911	0.0000185	2322
Missense in Polyphen		83	91.426	0.90784		902
Synonymous	-0.774	140	129	1.09	0.00000954	933
Loss of Function	0.271	7	7.82	0.895	3.74e-7	72

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000369	0.000357
Ashkenazi Jewish	0.00	0.00
East Asian	0.000230	0.000218
Finnish	0.00	0.00
European (Non-Finnish)	0.000128	0.000115
Middle Eastern	0.000230	0.000218
South Asian	0.0000331	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Receptor for activated thrombin or trypsin coupled to G proteins that stimulate phosphoinositide hydrolysis. May play a role in platelets activation. {ECO:0000269|PubMed:10079109}.
• Pathway: Complement and coagulation cascades - Homo sapiens (human);Platelet activation - Homo sapiens (human);Rap1 signaling pathway - Homo sapiens (human);Pathways in cancer - Homo sapiens (human);Neuroactive ligand-receptor interaction - Homo sapiens (human);Platelet Aggregation Inhibitor Pathway, Pharmacodynamics;GPCRs, Class A Rhodopsin-like;Signaling by GPCR;Signal Transduction;aspirin blocks signaling pathway involved in platelet activation;thrombin signaling and protease-activated receptors;Peptide ligand-binding receptors;Class A/1 (Rhodopsin-like receptors);Thrombin signalling through proteinase activated receptors (PARs);GPCR ligand binding;Platelet activation, signaling and aggregation;Hemostasis;G alpha (q) signalling events;GPCR downstream signalling;PAR4-mediated thrombin signaling events (Consensus)

Recessive Scores

• pRec: 0.139

Haploinsufficiency Scores

• pHI: 0.124
• hipred: N
• hipred_score: 0.245
• ghis: 0.459

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.476

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: F2rl3
• Phenotype: 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); homeostasis/metabolism phenotype

Gene ontology

• Biological process: signal transduction;G protein-coupled receptor signaling pathway;phospholipase C-activating G protein-coupled receptor signaling pathway;blood coagulation;response to wounding;platelet activation;positive regulation of Rho protein signal transduction;positive regulation of release of sequestered calcium ion into cytosol;positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G protein-coupled signaling pathway;platelet dense granule organization;thrombin-activated receptor signaling pathway
• Cellular component: extracellular region;plasma membrane;integral component of plasma membrane
• Molecular function: G protein-coupled receptor activity;thrombin-activated receptor activity