F2R

coagulation factor II thrombin receptor, the group of F2R receptors

Basic information

Region (hg38): 5:76716125-76735770

Links

ENSG00000181104 ∙ NCBI:2149 ∙ OMIM:187930 ∙ HGNC:3537 ∙ Uniprot:P25116 ∙ 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 F2R gene.

• not provided (5 variants)
• Inborn genetic diseases (5 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the F2R 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			5		1	6
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	5	1	4

Variants in F2R

This is a list of pathogenic ClinVar variants found in the F2R region.

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

Position	Type	Phenotype	Significance	ClinVar
5-76716239-G-A		F2R-related disorder	Benign (May 21, 2019)
5-76716336-C-T		not specified	Uncertain significance (Dec 20, 2023)
5-76732339-A-G			Benign (Mar 29, 2018)
5-76732586-A-G		not specified	Uncertain significance (Jan 03, 2024)
5-76732595-A-G		not specified	Uncertain significance (Dec 22, 2023)
5-76732598-G-C		not specified	Uncertain significance (Oct 13, 2023)
5-76732741-T-G			Benign (Dec 31, 2019)
5-76732817-A-G		not specified	Uncertain significance (Nov 23, 2021)
5-76732851-A-G		not specified	Uncertain significance (Oct 10, 2023)
5-76732865-C-A		not specified	Uncertain significance (Aug 22, 2023)
5-76732890-C-T		not specified	Uncertain significance (Jun 21, 2023)
5-76732963-G-A			Benign (Apr 10, 2018)
5-76732997-C-T		not specified	Uncertain significance (Jun 07, 2023)
5-76733015-G-A		not specified	Uncertain significance (Oct 31, 2023)
5-76733023-C-T			Likely benign (Jun 13, 2018)
5-76733027-G-T		not specified	Uncertain significance (Jul 25, 2023)
5-76733367-A-G			Benign (Dec 31, 2019)
5-76733376-G-C		not specified	Uncertain significance (Jan 02, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
F2R	protein_coding	protein_coding	ENST00000319211	2	19739

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00847	0.939	125719	0	29	125748	0.000115

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.19	173	223	0.775	0.0000131	2757
Missense in Polyphen		47	80.793	0.58173		1011
Synonymous	1.81	74	96.6	0.766	0.00000635	883
Loss of Function	1.68	5	11.0	0.454	5.47e-7	154

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000177	0.000177
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.000601	0.000601
European (Non-Finnish)	0.0000615	0.0000615
Middle Eastern	0.00	0.00
South Asian	0.0000653	0.0000653
Other	0.000326	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: High affinity receptor for activated thrombin coupled to G proteins that stimulate phosphoinositide hydrolysis. May play a role in platelets activation and in vascular development. {ECO:0000269|PubMed:10079109}.
• Pathway: PI3K-Akt signaling pathway - Homo sapiens (human);Complement and coagulation cascades - Homo sapiens (human);Platelet activation - Homo sapiens (human);Regulation of actin cytoskeleton - Homo sapiens (human);Calcium signaling pathway - Homo sapiens (human);cAMP signaling pathway - Homo sapiens (human);Rap1 signaling pathway - Homo sapiens (human);Phospholipase D signaling pathway - Homo sapiens (human);Pathways in cancer - Homo sapiens (human);Neuroactive ligand-receptor interaction - Homo sapiens (human);Platelet Aggregation Inhibitor Pathway, Pharmacodynamics;GPCRs, Other;Apoptosis-related network due to altered Notch3 in ovarian cancer;IL1 and megakaryocytes in obesity;Dengue-2 Interactions with Complement and Coagulation Cascades;Focal Adhesion-PI3K-Akt-mTOR-signaling pathway;PI3K-Akt Signaling Pathway;GPCRs, Class A Rhodopsin-like;Regulation of Actin Cytoskeleton;Complement and Coagulation Cascades;Signaling by GPCR;Signal Transduction;aspirin blocks signaling pathway involved in platelet activation;thrombin signaling and protease-activated receptors;fibrinolysis pathway;intrinsic prothrombin activation pathway;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;Common Pathway of Fibrin Clot Formation;Formation of Fibrin Clot (Clotting Cascade);G alpha (q) signalling events;GPCR downstream signalling;PAR1-mediated thrombin signaling events;extrinsic prothrombin activation pathway (Consensus)

Recessive Scores

• pRec: 0.399

Intolerance Scores

• loftool: 0.364
• rvis_EVS: -0.65
• rvis_percentile_EVS: 16.36

Haploinsufficiency Scores

• pHI: 0.0710
• hipred: Y
• hipred_score: 0.665
• ghis: 0.592

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.848

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: F2r
• Phenotype: homeostasis/metabolism phenotype; cellular phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); growth/size/body region phenotype; reproductive system 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); vision/eye phenotype; digestive/alimentary phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); limbs/digits/tail phenotype; skeleton phenotype; renal/urinary system phenotype; immune system phenotype; liver/biliary system phenotype; embryo phenotype; neoplasm

Zebrafish Information Network

• Gene name: f2r
• Affected structure: optic choroid vascular plexus
• Phenotype tag: abnormal
• Phenotype quality: hemorrhagic

Gene ontology

• Biological process: activation of MAPKK activity;connective tissue replacement involved in inflammatory response wound healing;negative regulation of glomerular filtration;activation of cysteine-type endopeptidase activity involved in apoptotic process;inflammatory response;G protein-coupled receptor signaling pathway;phospholipase C-activating G protein-coupled receptor signaling pathway;positive regulation of cytosolic calcium ion concentration;protein kinase C-activating G protein-coupled receptor signaling pathway;establishment of synaptic specificity at neuromuscular junction;blood coagulation;positive regulation of cell population proliferation;negative regulation of cell population proliferation;response to wounding;anatomical structure morphogenesis;positive regulation of phosphatidylinositol 3-kinase signaling;platelet activation;regulation of blood coagulation;positive regulation of blood coagulation;positive regulation of cell migration;response to lipopolysaccharide;regulation of interleukin-1 beta production;positive regulation of collagen biosynthetic process;positive regulation of Rho protein signal transduction;positive regulation of I-kappaB kinase/NF-kappaB signaling;positive regulation of cysteine-type endopeptidase activity involved in apoptotic process;positive regulation of MAPK cascade;negative regulation of neuron apoptotic process;positive regulation of GTPase activity;cell-cell junction maintenance;positive regulation of transcription, DNA-templated;positive regulation of vasoconstriction;positive regulation of smooth muscle contraction;positive regulation of JAK-STAT cascade;homeostasis of number of cells within a tissue;release of sequestered calcium ion into cytosol;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;positive regulation of calcium ion transport;regulation of sensory perception of pain;platelet dense granule organization;positive regulation of ERK1 and ERK2 cascade;thrombin-activated receptor signaling pathway;trans-synaptic signaling by endocannabinoid, modulating synaptic transmission;negative regulation of renin secretion into blood stream;positive regulation of interleukin-8 secretion;positive regulation of interleukin-6 secretion
• Cellular component: extracellular region;early endosome;late endosome;Golgi apparatus;plasma membrane;integral component of plasma membrane;caveola;cell surface;platelet dense tubular network;neuromuscular junction;postsynaptic membrane
• Molecular function: G-protein alpha-subunit binding;G protein-coupled receptor activity;signaling receptor binding;protein binding;thrombin-activated receptor activity;G-protein beta-subunit binding