Gene Gene information from NCBI Gene database.
Entrez ID 5740
Gene name Prostaglandin I2 synthase
Gene symbol PTGIS
Synonyms (NCBI Gene)
CYP8CYP8A1PGISPTGI
Chromosome 20
Chromosome location 20q13.13
Summary 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 prot
SNPs SNP information provided by dbSNP.
2
SNP ID Visualize variation Clinical significance Consequence
rs13306026 A>G Pathogenic Splice donor variant
rs61734270 C>T Likely-pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
1030
miRTarBase ID miRNA Experiments Reference
MIRT719899 hsa-miR-548c-3p HITS-CLIP 19536157
MIRT719898 hsa-miR-4668-3p HITS-CLIP 19536157
MIRT719897 hsa-miR-605-5p HITS-CLIP 19536157
MIRT719896 hsa-miR-3675-3p HITS-CLIP 19536157
MIRT719895 hsa-miR-4684-5p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
46
GO ID Ontology Definition Evidence Reference
GO:0001516 Process Prostaglandin biosynthetic process IBA
GO:0001516 Process Prostaglandin biosynthetic process IDA 15115769, 20122998, 21296955
GO:0001516 Process Prostaglandin biosynthetic process IEA
GO:0004497 Function Monooxygenase activity IEA
GO:0005506 Function Iron ion binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601699 9603 ENSG00000124212
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q16647
Protein name Prostacyclin synthase (EC 5.3.99.4) (Hydroperoxy icosatetraenoate dehydratase) (EC 4.2.1.152) (Prostaglandin I2 synthase)
Protein function Catalyzes the biosynthesis and metabolism of eicosanoids. Catalyzes the isomerization of prostaglandin H2 to prostacyclin (= prostaglandin I2), a potent mediator of vasodilation and inhibitor of platelet aggregation (PubMed:12372404, PubMed:1511
PDB 2IAG , 3B6H
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00067 p450 30 494 Cytochrome P450 Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed; particularly abundant in ovary, heart, skeletal muscle, lung and prostate. {ECO:0000269|PubMed:8185632}.
Sequence
Sequence length 500
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Arachidonic acid metabolism
Metabolic pathways
  Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol
Synthesis of bile acids and bile salts via 24-hydroxycholesterol
Synthesis of bile acids and bile salts via 27-hydroxycholesterol
Nicotinamide salvaging
Eicosanoids
Sterols are 12-hydroxylated by CYP8B1
Synthesis of Prostaglandins (PG) and Thromboxanes (TX)
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
25
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Childhood-onset schizophrenia Likely pathogenic rs61734270 RCV000202340
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Essential hypertension Pathogenic rs13306026 RCV000008314
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
AUTISM SPECTRUM DISORDER CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CAROTID STENOSIS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma BEFREE 16314486
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 16537708, 17277229
★☆☆☆☆
Found in Text Mining only
Ankylosing spondylitis Ankylosing Spondylitis LHGDN 16081819
★☆☆☆☆
Found in Text Mining only
Aortic Aneurysm Abdominal Aortic aneurysm Pubtator 31539405 Associate
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 22112851
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis Pubtator 20348234 Associate
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis BEFREE 22112851
★☆☆☆☆
Found in Text Mining only
Bladder Neoplasm Bladder Neoplasm BEFREE 30315244
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 19276290, 22631658, 22938436
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 22631658, 22938436, 26265889, 33126731, 37779109 Associate
★☆☆☆☆
Found in Text Mining only