This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. However, this protein is considered a member of the cytochrome P450 superfamily on the basis of sequence similarity rather than functional simi... See more...

Aliases for PTGIS Gene

Aliases for PTGIS Gene

  • Prostaglandin I2 Synthase 2 3 4 5
  • Prostacyclin Synthase 2 3 4
  • Cytochrome P450, Family 8, Subfamily A, Polypeptide 1 2 3
  • Prostaglandin I2 (Prostacyclin) Synthase 2 3
  • CYP8A1 3 4
  • CYP8 3 4
  • EC 5.3.99.4 4
  • PGIS 3
  • PTGI 3

External Ids for PTGIS Gene

Previous GeneCards Identifiers for PTGIS Gene

  • GC20M047848
  • GC20M048758
  • GC20M048805
  • GC20M047553
  • GC20M048120
  • GC20M044868

Summaries for PTGIS Gene

Entrez Gene Summary for PTGIS Gene

  • This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. However, this protein is considered a member of the cytochrome P450 superfamily on the basis of sequence similarity rather than functional similarity. This endoplasmic reticulum membrane protein catalyzes the conversion of prostglandin H2 to prostacyclin (prostaglandin I2), a potent vasodilator and inhibitor of platelet aggregation. An imbalance of prostacyclin and its physiological antagonist thromboxane A2 contribute to the development of myocardial infarction, stroke, and atherosclerosis. [provided by RefSeq, Jul 2008]

GeneCards Summary for PTGIS Gene

PTGIS (Prostaglandin I2 Synthase) is a Protein Coding gene. Diseases associated with PTGIS include Hypertension, Essential and Female Stress Incontinence. Among its related pathways are Cytochrome P450 - arranged by substrate type and Prostaglandin 2 biosynthesis and metabolism FM. Gene Ontology (GO) annotations related to this gene include iron ion binding and oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen. An important paralog of this gene is CYP8B1.

UniProtKB/Swiss-Prot Summary for PTGIS Gene

  • Catalyzes the isomerization of prostaglandin H2 to prostacyclin (= prostaglandin I2).

Gene Wiki entry for PTGIS Gene

PharmGKB "VIP" Summary for PTGIS Gene

Additional gene information for PTGIS Gene

No data available for CIViC Summary , Tocris Summary , Rfam classification and piRNA Summary for PTGIS Gene

Genomics for PTGIS Gene

GeneHancer (GH) Regulatory Elements for PTGIS Gene

Promoters and enhancers for PTGIS 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 PTGIS on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PTGIS gene promoter:
  • AP-1
  • AREB6
  • ATF-2
  • c-Fos
  • c-Jun

Genomic Locations for PTGIS Gene

Genomic Locations for PTGIS Gene
chr20:49,503,874-49,568,170
(GRCh38/hg38)
Size:
64,297 bases
Orientation:
Minus strand
chr20:48,120,411-48,184,707
(GRCh37/hg19)
Size:
64,297 bases
Orientation:
Minus strand

Genomic View for PTGIS Gene

Genes around PTGIS on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for PTGIS Gene

Proteins for PTGIS Gene

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

    Protein Symbol:
    Q16647-PTGIS_HUMAN
    Recommended name:
    Prostacyclin synthase
    Protein Accession:
    Q16647
    Secondary Accessions:
    • Q3MII8
    • Q9HAX2
    • Q9HAX3
    • Q9HAX4

    Protein attributes for PTGIS Gene

    Size:
    500 amino acids
    Molecular mass:
    57104 Da
    Cofactor:
    Name=heme; Xref=ChEBI:CHEBI:30413;
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for PTGIS Gene

neXtProt entry for PTGIS Gene

Post-translational modifications for PTGIS Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PTGIS Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PTGIS Gene

Domains & Families for PTGIS Gene

Gene Families for PTGIS Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • FDA approved drug targets
  • Plasma proteins
  • Predicted membrane proteins

Protein Domains for PTGIS Gene

Suggested Antigen Peptide Sequences for PTGIS Gene

GenScript: Design optimal peptide antigens:
  • Prostaglandin I2 synthase (PTGIS_HUMAN)
  • Prostacyclin synthase (Q6LEN0_HUMAN)
  • Prostacyclin synthase (Q6LEN2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q16647

UniProtKB/Swiss-Prot:

PTGIS_HUMAN :
  • Belongs to the cytochrome P450 family.
Family:
  • Belongs to the cytochrome P450 family.
genes like me logo Genes that share domains with PTGIS: view

Function for PTGIS Gene

Molecular function for PTGIS Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the isomerization of prostaglandin H2 to prostacyclin (= prostaglandin I2).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=prostaglandin H2 = prostaglandin I2; Xref=Rhea:RHEA:23580, ChEBI:CHEBI:57403, ChEBI:CHEBI:57405; EC=5.3.99.4; Evidence={ECO:0000269 PubMed:18032380, ECO:0000269 PubMed:25623425};.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=9.55 uM for 6-keto-PGF1alpha {ECO:0000269 PubMed:25623425}; KM=13 uM for prostaglandin H2 (at 23 degrees Celsius) {ECO:0000269 PubMed:18032380}; Vmax=534 mmol/min/pg enzyme {ECO:0000269 PubMed:25623425}; Vmax=980 mol/min/mol enzyme {ECO:0000269 PubMed:18032380};
GENATLAS Biochemistry:
prostaglandin 12 synthase

Enzyme Numbers (IUBMB) for PTGIS Gene

Phenotypes From GWAS Catalog for PTGIS Gene

Gene Ontology (GO) - Molecular Function for PTGIS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004497 monooxygenase activity IEA --
GO:0005506 iron ion binding IEA --
GO:0005515 protein binding IPI 20122998
GO:0008116 prostaglandin-I synthase activity IBA,IDA 20122998
GO:0016705 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen IEA --
genes like me logo Genes that share ontologies with PTGIS: view
genes like me logo Genes that share phenotypes with PTGIS: view

Human Phenotype Ontology for PTGIS Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PTGIS Gene

MGI Knock Outs for PTGIS:

Animal Model Products

  • Taconic Biosciences Mouse Models for PTGIS

CRISPR Products

miRNA for PTGIS Gene

miRTarBase miRNAs that target PTGIS

Inhibitory RNA Products

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

Clone Products

  • Addgene plasmids for PTGIS

No data available for Transcription Factor Targets and HOMER Transcription for PTGIS Gene

Localization for PTGIS Gene

Subcellular locations from UniProtKB/Swiss-Prot for PTGIS Gene

Endoplasmic reticulum membrane; Single-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 PTGIS gene
Compartment Confidence
plasma membrane 5
nucleus 5
endoplasmic reticulum 5
extracellular 4
mitochondrion 1
peroxisome 1
cytosol 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PTGIS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space ISS --
GO:0005634 nucleus IDA,IEA 21035466
GO:0005737 cytoplasm IEA --
GO:0005783 endoplasmic reticulum IDA,IBA 21035466
GO:0005789 endoplasmic reticulum membrane TAS --
genes like me logo Genes that share ontologies with PTGIS: view

Pathways & Interactions for PTGIS Gene

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

Gene Ontology (GO) - Biological Process for PTGIS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001516 prostaglandin biosynthetic process IDA 20122998
GO:0006629 lipid metabolic process IEA --
GO:0006631 fatty acid metabolic process IEA --
GO:0006633 fatty acid biosynthetic process IEA --
GO:0006690 icosanoid metabolic process TAS --
genes like me logo Genes that share ontologies with PTGIS: view

No data available for SIGNOR curated interactions for PTGIS Gene

Drugs & Compounds for PTGIS Gene

(13) Drugs for PTGIS Gene - From: DrugBank, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phenylbutazone Approved, Vet_approved Pharma Target, inhibitor 0
Epoprostenol Approved Pharma Target, inducer 61
(5Z)-7-{(1R,4S,5R,6R)-6-[(1E)-1-Octen-1-yl]-2,3-diazabicyclo[2.2.1]hept-2-en-5-yl}-5-heptenoic acid Experimental Pharma Target 0
heme Pharma Agonist 0

(21) Additional Compounds for PTGIS Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Prostaglandin H2
  • (5Z,13E)-(15S)-9alpha,11alpha-Epidioxy-15-hydroxyprosta-5,13-dienoate
  • (5Z,13E,15S)-9alpha,11alpha-Epidioxy-15-hydroxyprosta-5,13-dienoate
  • (5Z,9alpha,11alpha,13E,15S)-9,11-Epidioxy-15-hydroxyprosta-5,13-dien-1-Oic acid
  • 9,11-epoxymethano-PGH2
  • PGH2
42935-17-1
genes like me logo Genes that share compounds with PTGIS: view

Transcripts for PTGIS Gene

mRNA/cDNA for PTGIS Gene

(1) REFSEQ mRNAs :
(10) Additional mRNA sequences :
(65) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

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

Clone Products

  • Addgene plasmids for PTGIS

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

No ASD Table

Relevant External Links for PTGIS Gene

GeneLoc Exon Structure for
PTGIS
ECgene alternative splicing isoforms for
PTGIS

Expression for PTGIS Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Artery - Coronary (x5.8), Artery - Aorta (x5.8), and Artery - Tibial (x4.0).

Protein differential expression in normal tissues from HIPED for PTGIS Gene

This gene is overexpressed in Urinary Bladder (12.9), Testis (11.5), and Uterus (9.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PTGIS Gene



Protein tissue co-expression partners for PTGIS Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PTGIS Gene:

PTGIS

SOURCE GeneReport for Unigene cluster for PTGIS Gene:

Hs.302085

mRNA Expression by UniProt/SwissProt for PTGIS Gene:

Q16647-PTGIS_HUMAN
Tissue specificity: Widely expressed; particularly abundant in ovary, heart, skeletal muscle, lung and prostate.

Evidence on tissue expression from TISSUES for PTGIS Gene

  • Nervous system(4.3)
  • Heart(2.9)
  • Muscle(2.5)
  • Lung(2.2)
  • Gall bladder(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PTGIS Gene

Germ Layers:
  • mesoderm
Systems:
  • cardiovascular
Regions:
Head and neck:
  • ear
Thorax:
  • heart
General:
  • blood
  • blood vessel
genes like me logo Genes that share expression patterns with PTGIS: view

Orthologs for PTGIS Gene

This gene was present in the common ancestor of chordates.

Orthologs for PTGIS Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PTGIS 33 32
  • 98.68 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PTGIS 33 32
  • 87.2 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PTGIS 33 32
  • 86.85 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ptgis 17 33 32
  • 84.31 (n)
rat
(Rattus norvegicus)
Mammalia Ptgis 32
  • 82.43 (n)
oppossum
(Monodelphis domestica)
Mammalia PTGIS 33
  • 66 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PTGIS 33
  • 65 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PTGIS 33
  • 58 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ptgis 32
  • 59.86 (n)
zebrafish
(Danio rerio)
Actinopterygii ptgis 33 32
  • 55.41 (n)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4049 33
  • 34 (a)
ManyToMany
-- 33
  • 30 (a)
ManyToMany
Species where no ortholog for PTGIS was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)
  • chicken (Gallus gallus)
  • 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 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 PTGIS Gene

ENSEMBL:
Gene Tree for PTGIS (if available)
TreeFam:
Gene Tree for PTGIS (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PTGIS: view image

Paralogs for PTGIS Gene

Paralogs for PTGIS Gene

(4) SIMAP similar genes for PTGIS Gene using alignment to 3 proteins:

  • PTGIS_HUMAN
  • L8EC60_HUMAN
  • Q6LEN2_HUMAN
genes like me logo Genes that share paralogs with PTGIS: view

Variants for PTGIS Gene

Sequence variations from dbSNP and Humsavar for PTGIS Gene

SNP ID Clin Chr 20 pos Variation AA Info Type
rs13306026 pathogenic, Essential hypertension 49,511,026(-) A/G splice_donor_variant
rs61734270 likely-pathogenic, Childhood-Onset Schizophrenia 49,524,089(-) C/T coding_sequence_variant, missense_variant
rs1000041854 -- 49,566,793(-) G/A intron_variant
rs1000108429 -- 49,527,718(-) T/G intron_variant
rs1000141289 -- 49,520,128(-) C/G intron_variant

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

Variant ID Type Subtype PubMed ID
dgv4323n100 CNV loss 25217958
esv2762080 CNV loss 21179565
esv3568005 CNV loss 25503493
esv3646015 CNV loss 21293372
nsv1065852 CNV loss 25217958
nsv586173 CNV loss 21841781
nsv586174 CNV loss 21841781
nsv586175 CNV loss 21841781
nsv586176 CNV loss 21841781

Variation tolerance for PTGIS Gene

Residual Variation Intolerance Score: 94.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.95; 49.28% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PTGIS Gene

The Human Cytochrome P450 Allele Nomenclature Database
PTGIS
Human Gene Mutation Database (HGMD)
PTGIS
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PTGIS

SNP Genotyping and Copy Number Assay Products

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

Disorders for PTGIS Gene

MalaCards: The human disease database

(9) MalaCards diseases for PTGIS Gene - From: HGMD, OMIM, ClinVar, GTR, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
hypertension, essential
  • eht
female stress incontinence
  • female urinary stress incontinence
acute endometritis
neurogenic bowel
spondyloarthropathy
  • spondarthropathy
- elite association - COSMIC cancer census association via MalaCards
Search PTGIS in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PTGIS_HUMAN
  • Essential hypertension (EHT) [MIM:145500]: A condition in which blood pressure is consistently higher than normal with no identifiable cause. {ECO:0000269 PubMed:12372404}. Note=The disease may be caused by mutations affecting the gene represented in this entry.

Additional Disease Information for PTGIS

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with PTGIS: view

No data available for Genatlas for PTGIS Gene

Publications for PTGIS Gene

  1. Splicing mutation of the prostacyclin synthase gene in a family associated with hypertension. (PMID: 12372404) Nakayama T … Oates JA (Biochemical and biophysical research communications 2002) 3 4 23 43 56
  2. Determination of genetic predisposition to patent ductus arteriosus in preterm infants. (PMID: 19336370) Dagle JM … Murray JC (Pediatrics 2009) 3 23 43 56
  3. Variation in eicosanoid genes, non-fatal myocardial infarction and ischemic stroke. (PMID: 19046748) Lemaitre RN … Psaty BM (Atherosclerosis 2009) 3 23 43 56
  4. A quantitative trait locus for SBP maps near KCNB1 and PTGIS in a population isolate. (PMID: 19265782) Barbalić M … Rudan P (American journal of hypertension 2009) 3 23 43 56
  5. Association of polymorphisms of PTGS2 and CYP8A1 with myocardial infarction. (PMID: 19327107) Xie X … Liu F (Clinical chemistry and laboratory medicine 2009) 3 23 43 56

Products for PTGIS Gene

Sources for PTGIS Gene