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 thro... See more...

Aliases for F2RL2 Gene

Aliases for F2RL2 Gene

  • Coagulation Factor II Thrombin Receptor Like 2 2 3 5
  • PAR3 2 3 4
  • Proteinase-Activated Receptor 3 3 4
  • Thrombin Receptor-Like 2 3 4
  • PAR-3 3 4
  • Coagulation Factor II Receptor-Like 2 (Protease-Actovated Receptor 3) 3
  • Coagulation Factor II (Thrombin) Receptor-Like 2 2
  • Coagulation Factor II Receptor-Like 2 4
  • Proteinase-Activated Receptor-3 2
  • Protease-Activated Receptor 3 3
  • F2RL2 5

External Ids for F2RL2 Gene

Previous GeneCards Identifiers for F2RL2 Gene

  • GC05M074718
  • GC05M076147
  • GC05M075951
  • GC05M075995
  • GC05M075947
  • GC05M071119

Summaries for F2RL2 Gene

Entrez Gene Summary for F2RL2 Gene

  • 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]

GeneCards Summary for F2RL2 Gene

F2RL2 (Coagulation Factor II Thrombin Receptor Like 2) is a Protein Coding gene. Diseases associated with F2RL2 include Achondroplasia. Among its related pathways are Development HGF signaling pathway and Complement and coagulation cascades. Gene Ontology (GO) annotations related to this gene include G protein-coupled receptor activity and thrombin-activated receptor activity. An important paralog of this gene is F2RL1.

UniProtKB/Swiss-Prot Summary for F2RL2 Gene

  • Receptor for activated thrombin coupled to G proteins that stimulate phosphoinositide hydrolysis.

Gene Wiki entry for F2RL2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for F2RL2 Gene

Genomics for F2RL2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for F2RL2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around F2RL2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for F2RL2

Top Transcription factor binding sites by QIAGEN in the F2RL2 gene promoter:
  • AML1a
  • AP-1
  • ATF-2
  • c-Jun
  • GR-alpha
  • GR-beta
  • Ik-1
  • POU3F2
  • POU3F2 (N-Oct-5a)
  • POU3F2 (N-Oct-5b)

Genomic Locations for F2RL2 Gene

Latest Assembly
chr5:76,615,482-76,623,413
(GRCh38/hg38)
Size:
7,932 bases
Orientation:
Minus strand

Previous Assembly
chr5:75,911,307-75,919,228
(GRCh37/hg19 by Entrez Gene)
Size:
7,922 bases
Orientation:
Minus strand

chr5:75,911,307-75,919,259
(GRCh37/hg19 by Ensembl)
Size:
7,953 bases
Orientation:
Minus strand

Genomic View for F2RL2 Gene

Genes around F2RL2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
F2RL2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for F2RL2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for F2RL2 Gene

Proteins for F2RL2 Gene

  • Protein details for F2RL2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O00254-PAR3_HUMAN
    Recommended name:
    Proteinase-activated receptor 3
    Protein Accession:
    O00254
    Secondary Accessions:
    • B2R754
    • B4DQ13
    • Q52M68
    • Q7Z3W3

    Protein attributes for F2RL2 Gene

    Size:
    374 amino acids
    Molecular mass:
    42508 Da
    Quaternary structure:
    • Interacts with INSC/inscuteable and probably GPSM2.
    SequenceCaution:
    • Sequence=CAD97628.1; Type=Frameshift; Evidence={ECO:0000305};

    Alternative splice isoforms for F2RL2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for F2RL2 Gene

Post-translational modifications for F2RL2 Gene

  • A proteolytic cleavage generates a new N-terminus that functions as a tethered ligand.
  • Glycosylation at Asn25, Asn82, and Asn331
  • Modification sites at PhosphoSitePlus

Other Protein References for F2RL2 Gene

No data available for DME Specific Peptides for F2RL2 Gene

Domains & Families for F2RL2 Gene

Gene Families for F2RL2 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • G-protein coupled receptors
  • Predicted membrane proteins

Protein Domains for F2RL2 Gene

InterPro:
Blocks:
  • Protease activated receptor precursor signature
  • Protease activated receptor 3 precursor signature

Suggested Antigen Peptide Sequences for F2RL2 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ51933, highly similar to Proteinase-activated receptor 3 (B4DQ13_HUMAN)
  • Thrombin receptor-like 2 (PAR3_HUMAN)
  • F2RL2 protein (Q4VBN6_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O00254

UniProtKB/Swiss-Prot:

PAR3_HUMAN :
  • Belongs to the G-protein coupled receptor 1 family.
Family:
  • Belongs to the G-protein coupled receptor 1 family.
genes like me logo Genes that share domains with F2RL2: view

Function for F2RL2 Gene

Molecular function for F2RL2 Gene

UniProtKB/Swiss-Prot Function:
Receptor for activated thrombin coupled to G proteins that stimulate phosphoinositide hydrolysis.
GENATLAS Biochemistry:
coagulation factor II (thrombin) receptor-like 2,G protein coupled receptor superfamily

Phenotypes From GWAS Catalog for F2RL2 Gene

Gene Ontology (GO) - Molecular Function for F2RL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004435 phosphatidylinositol phospholipase C activity TAS 9087410
GO:0004930 G protein-coupled receptor activity IBA 21873635
GO:0005515 protein binding IPI 16458856
GO:0015057 thrombin-activated receptor activity TAS,IEA --
genes like me logo Genes that share ontologies with F2RL2: view
genes like me logo Genes that share phenotypes with F2RL2: view

Animal Models for F2RL2 Gene

MGI Knock Outs for F2RL2:

Animal Models for research

  • Taconic Biosciences Mouse Models for F2RL2

miRNA for F2RL2 Gene

miRTarBase miRNAs that target F2RL2

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for F2RL2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for F2RL2 Gene

Localization for F2RL2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for F2RL2 Gene

Cell membrane. Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for F2RL2 gene
Compartment Confidence
plasma membrane 5
extracellular 4
cytoskeleton 1
nucleus 1

Gene Ontology (GO) - Cellular Components for F2RL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS,IBA 21873635
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with F2RL2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for F2RL2 Gene

Pathways & Interactions for F2RL2 Gene

genes like me logo Genes that share pathways with F2RL2: view

Pathways by source for F2RL2 Gene

SIGNOR curated interactions for F2RL2 Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for F2RL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction IEA --
GO:0007186 G protein-coupled receptor signaling pathway TAS --
GO:0007596 blood coagulation TAS 9087410
GO:0007599 hemostasis IEA --
GO:0009611 response to wounding TAS 9087410
genes like me logo Genes that share ontologies with F2RL2: view

Drugs & Compounds for F2RL2 Gene

(9) Drugs for F2RL2 Gene - From: ApexBio, DGIdb, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Vorapaxar Approved Pharma PAR-1 antagonist,potent and orally active 15
Thrombin Receptor Activator for Peptide 5 (TRAP-5) Pharma 0
RUSALATIDE Pharma 0

(11) Additional Compounds for F2RL2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(2) ApexBio Compounds for F2RL2 Gene

Compound Action Cas Number
Thrombin Receptor Activator for Peptide 5 (TRAP-5) 141685-53-2
Vorapaxar PAR-1 antagonist,potent and orally active 618385-01-6
genes like me logo Genes that share compounds with F2RL2: view

Drug products for research

Transcripts for F2RL2 Gene

mRNA/cDNA for F2RL2 Gene

2 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for F2RL2

Alternative Splicing Database (ASD) splice patterns (SP) for F2RL2 Gene

No ASD Table

Relevant External Links for F2RL2 Gene

GeneLoc Exon Structure for
F2RL2

Expression for F2RL2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for F2RL2 Gene

mRNA differential expression in normal tissues according to GTEx for F2RL2 Gene

This gene is overexpressed in Minor Salivary Gland (x4.7) and Esophagus - Muscularis (x4.3).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for F2RL2

SOURCE GeneReport for Unigene cluster for F2RL2 Gene:

Hs.42502

mRNA Expression by UniProt/SwissProt for F2RL2 Gene:

O00254-PAR3_HUMAN
Tissue specificity: Highest expression in the megakaryocytes of the bone marrow, lower in mature megakaryocytes, in platelets and in a variety of other tissues such as heart and gut.

Evidence on tissue expression from TISSUES for F2RL2 Gene

  • Eye(4)
genes like me logo Genes that share expression patterns with F2RL2: view

Primer products for research

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for F2RL2 Gene

Orthologs for F2RL2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for F2RL2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia F2RL2 29 30
  • 99.64 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia F2RL2 29 30
  • 88.56 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia F2RL2 29 30
  • 87.81 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia F2rl2 29 16 30
  • 77.24 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia F2rl2 29
  • 76.67 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia F2RL2 30
  • 70 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia F2RL2 30
  • 67 (a)
OneToOne
Chicken
(Gallus gallus)
Aves F2RL2 29 30
  • 66.76 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia F2RL2 30
  • 55 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia f2rl2 29
  • 61.77 (n)
Zebrafish
(Danio rerio)
Actinopterygii LOC100333265 29
  • 48.75 (n)
F2RL2 (1 of 2) 30
  • 37 (a)
OneToMany
f2rl2 30
  • 29 (a)
OneToMany
Species where no ortholog for F2RL2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for F2RL2 Gene

ENSEMBL:
Gene Tree for F2RL2 (if available)
TreeFam:
Gene Tree for F2RL2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for F2RL2: view image
Alliance of Genome Resources:
Additional Orthologs for F2RL2

Paralogs for F2RL2 Gene

(19) SIMAP similar genes for F2RL2 Gene using alignment to 2 proteins:

  • PAR3_HUMAN
  • Q4VBN6_HUMAN
genes like me logo Genes that share paralogs with F2RL2: view

Variants for F2RL2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for F2RL2 Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
rs755031524 Uncertain Significance: not provided 76,618,546(-) GA/G
NM_004101.4(F2RL2):c.160del (p.Ser54fs)
FRAMESHIFT_VARIANT,INTRON
rs2069649 -- p.Leu15Ser
rs2069683 -- p.Asn250Asp
rs2069700 -- p.Met177Val

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for F2RL2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for F2RL2 Gene

Variant ID Type Subtype PubMed ID
dgv5702n100 CNV loss 25217958
dgv9884n54 CNV loss 21841781
nsv1022032 CNV gain 25217958
nsv1031881 CNV gain 25217958

Variation tolerance for F2RL2 Gene

Residual Variation Intolerance Score: 48.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.41; 54.36% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for F2RL2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
F2RL2
Leiden Open Variation Database (LOVD)
F2RL2

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for F2RL2 Gene

Disorders for F2RL2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for F2RL2 Gene - From: GCD

Disorder Aliases PubMed IDs
achondroplasia
  • ach
- elite association - COSMIC cancer census association via MalaCards
Search F2RL2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for F2RL2

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with F2RL2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for F2RL2 Gene

Publications for F2RL2 Gene

  1. Protease-activated receptor 3 is a second thrombin receptor in humans. (PMID: 9087410) Ishihara H … Coughlin SR (Nature 1997) 2 3 4 22
  2. Protease-activated receptors 1 and 4 mediate activation of human platelets by thrombin. (PMID: 10079109) Kahn ML … Coughlin SR (The Journal of clinical investigation 1999) 3 4 22
  3. Gene and locus structure and chromosomal localization of the protease-activated receptor gene family. (PMID: 9722561) Kahn ML … Coughlin SR (The Journal of biological chemistry 1998) 2 3 22
  4. The human proteinase-activated receptor-3 (PAR-3) gene. Identification within a Par gene cluster and characterization in vascular endothelial cells and platelets. (PMID: 9614115) Schmidt VA … Bahou WF (The Journal of biological chemistry 1998) 3 4 22
  5. A genome-wide association study for age-related hearing impairment in the Saami. (PMID: 20068591) Van Laer L … Van Camp G (European journal of human genetics : EJHG 2010) 3 40

Products for F2RL2 Gene

Sources for F2RL2 Gene