F2R
coagulation factor II thrombin receptor, the group of F2R receptors
Basic information
Region (hg38): 5:76716126-76735770
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
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 | 4 | |||||
| missense | 12 | 13 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 1 | |||||
| Total | 0 | 0 | 12 | 1 | 5 |
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) | |||
| 5-76732443-C-G | not specified | Uncertain significance (Mar 20, 2024) | ||
| 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) | ||
| 5-76732622-G-A | not specified | Likely benign (Mar 25, 2024) | ||
| 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) | ||
| 5-76732863-G-T | not specified | Uncertain significance (Jun 07, 2024) | ||
| 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:
| 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:
- 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