F2RL2

coagulation factor II thrombin receptor like 2, the group of F2R receptors

Basic information

Region (hg38): 5:76615481-76623413

Links

ENSG00000164220 ∙ NCBI:2151 ∙ OMIM:601919 ∙ HGNC:3539 ∙ Uniprot:O00254 ∙ 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 F2RL2 gene.

• Inborn genetic diseases (18 variants)
• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the F2RL2 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			18			18
nonsense						0
start loss						0
frameshift			1			1
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	19	0	0

Variants in F2RL2

This is a list of pathogenic ClinVar variants found in the F2RL2 region.

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

Position	Type	Phenotype	Significance	ClinVar
5-76617647-C-T		not specified	Uncertain significance (Jan 18, 2022)
5-76617763-G-A		not specified	Uncertain significance (May 24, 2023)
5-76617803-C-T		not specified	Uncertain significance (Feb 27, 2023)
5-76617827-G-A		not specified	Uncertain significance (Feb 05, 2024)
5-76617830-C-A		not specified	Uncertain significance (May 03, 2023)
5-76617868-T-C		not specified	Uncertain significance (Feb 27, 2023)
5-76617923-A-C		not specified	Uncertain significance (Aug 02, 2021)
5-76618037-A-G		not specified	Uncertain significance (May 31, 2023)
5-76618129-A-G		not specified	Uncertain significance (Jan 04, 2024)
5-76618153-G-A		not specified	Uncertain significance (Aug 30, 2021)
5-76618204-G-C		not specified	Uncertain significance (Feb 27, 2023)
5-76618204-G-T		not specified	Uncertain significance (Jul 06, 2021)
5-76618304-G-C		not specified	Uncertain significance (Jan 23, 2023)
5-76618328-A-G		not specified	Uncertain significance (Dec 21, 2022)
5-76618477-T-C		not specified	Uncertain significance (Oct 05, 2021)
5-76618485-A-C		not specified	Uncertain significance (Jan 29, 2024)
5-76618502-T-C		not specified	Uncertain significance (Sep 26, 2022)
5-76618519-G-A		not specified	Uncertain significance (Nov 17, 2022)
5-76618534-C-T		not specified	Uncertain significance (Jun 03, 2022)
5-76618546-GA-G			Uncertain significance (Aug 07, 2018)
5-76618573-G-A		not specified	Uncertain significance (Feb 10, 2022)
5-76618580-C-T		not specified	Uncertain significance (Jul 05, 2023)
5-76618586-G-A		not specified	Uncertain significance (Aug 28, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
F2RL2	protein_coding	protein_coding	ENST00000296641	2	7953

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000175	0.458	125708	0	39	125747	0.000155

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.410	185	201	0.919	0.0000100	2446
Missense in Polyphen		47	56.123	0.83744		728
Synonymous	0.110	77	78.2	0.984	0.00000389	763
Loss of Function	0.485	8	9.62	0.831	4.07e-7	135

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00101	0.00100
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.000115	0.000114
Middle Eastern	0.0000544	0.0000544
South Asian	0.0000980	0.0000980
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Receptor for activated thrombin coupled to G proteins that stimulate phosphoinositide hydrolysis. {ECO:0000269|PubMed:10079109}.
• Pathway: Complement and coagulation cascades - Homo sapiens (human);Neuroactive ligand-receptor interaction - Homo sapiens (human);Regulation of Microtubule Cytoskeleton;GPCRs, Class A Rhodopsin-like;Signaling by GPCR;Signal Transduction;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;ErbB1 downstream signaling;Hemostasis;G alpha (q) signalling events;GPCR downstream signalling;Insulin Pathway;PAR4-mediated thrombin signaling events;PAR1-mediated thrombin signaling events;CDC42 signaling events;Signaling events mediated by Hepatocyte Growth Factor Receptor (c-Met);Nephrin/Neph1 signaling in the kidney podocyte;RhoA signaling pathway (Consensus)

Recessive Scores

• pRec: 0.106

Intolerance Scores

• loftool: 0.560
• rvis_EVS: 0.77
• rvis_percentile_EVS: 87.06

Haploinsufficiency Scores

• pHI: 0.134
• hipred: Y
• hipred_score: 0.565
• ghis: 0.401

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.324

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: F2rl2
• Phenotype: homeostasis/metabolism phenotype; hematopoietic system phenotype

Gene ontology

• Biological process: G protein-coupled receptor signaling pathway;blood coagulation;response to wounding;platelet activation;positive regulation of Rho protein signal transduction;positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G protein-coupled signaling pathway;thrombin-activated receptor signaling pathway
• Cellular component: extracellular region;plasma membrane;integral component of plasma membrane;apical plasma membrane;protein-containing complex
• Molecular function: phosphatidylinositol phospholipase C activity;G protein-coupled receptor activity;protein binding;thrombin-activated receptor activity