Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5740
Gene name Gene Name - the full gene name approved by the HGNC.
Prostaglandin I2 synthase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PTGIS
Synonyms (NCBI Gene) Gene synonyms aliases
CYP8, CYP8A1, PGIS, PTGI
Chromosome Chromosome number
20
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
20q13.13
Summary Summary of gene provided in NCBI Entrez 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 prot
SNPs SNP information provided by dbSNP.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
601699 9603 ENSG00000124212
Protein
UniProt ID 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)
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Hypertension essential hypertension rs13306026 N/A
Schizophrenia Childhood-onset schizophrenia rs61734270 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Neuroticism Neuroticism N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Abortion Spontaneous Associate 28852049
Aortic Aneurysm Abdominal Associate 31539405
Atherosclerosis Associate 20348234
Breast Neoplasms Associate 22631658, 22938436, 26265889, 33126731, 37779109
Carcinoma Hepatocellular Associate 32311840
Carcinoma Non Small Cell Lung Associate 21523772
Carcinoma Squamous Cell Associate 21523772, 36703911
Carotid Artery Diseases Associate 20348234
Cerebral Hemorrhage Associate 26795600
Cerebral Infarction Associate 12924623