F2RL2
protein-codingcoagulation factor II thrombin receptor like 2, the group of F2R receptors
Gene summary
This gene encodes a member of the protease-activated receptor (PAR) family which is a subfamily of the seven transmembrane G protein-coupled cell surface receptor family. The encoded protein acts as a cofactor in the thrombin-mediated cleavage and activation of the protease-activated receptor family member PAR4. The encoded protein plays an essential role in hemostasis and thrombosis. Alternate splicing results in multiple transcript variants that encode different isoforms. [provided by RefSeq, Feb 2012]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~7.9 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to F2RL2 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_004101.4. Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 0 | |||||
| missense | 52 | 52 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 1 | 1 | ||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 53 | 0 | 0 | 53 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_004092.1 | 2 | MANE Select | |
| Ensembl | ENSP00000296641.3 | 2 | MANE Select | |
| RefSeq | NP_001243495.1 | 1 | Standard | |
| Ensembl | ENSP00000426703.1 | 1 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- 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
Biological Process
- G protein-coupled receptor signaling pathway
- blood coagulation
- response to wounding
- platelet activation
- positive regulation of Rho protein signal transduction
Molecular Function
- phosphatidylinositol phospholipase C activity
- G protein-coupled receptor activity
- protein binding
- thrombin-activated receptor activity
Cellular Component
- extracellular region
- plasma membrane
- integral component of plasma membrane
- apical plasma membrane
- protein-containing complex
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000296641
- Coding exons
- 2
- Length
- 7953
- Individuals with no LoFs
- 125708
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 39
- Defined
- 125747
- p
- 0.000155
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 0.410 | 185 | 201 | 0.919 | 0.0000100 | 2446 |
| Missense (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 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.00081 | 0.00080 | rare |
| Latino/Admixed American | 0.00020 | 0.00020 | rare |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0.000054 | 0.000054 | rare |
| Finnish | 0.000046 | 0.000046 | rare |
| European (Non-Finnish) | 0.00011 | 0.00011 | rare |
| South Asian | 0.000098 | 0.000098 | rare |
| Other | 0.00016 | 0.00016 | rare |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Receptor for activated thrombin coupled to G proteins that stimulate phosphoinositide hydrolysis. {ECO:0000269|PubMed:10079109}.;
Recessive Scores
- pRec
- 0.106
Intolerance Scores
- LoFtool
- 0.560
- RVIS EVS
- 0.77
- RVIS percentile EVS
- 87.06
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- N
- Indispensability score
- 0.324
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |