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PTGIS (prostaglandin I2 synthase)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5740
Gene nameGene Name - the full gene name approved by the HGNC.
Prostaglandin I2 synthase
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
PTGIS
SynonymsGene synonyms aliases
CYP8, CYP8A1, PGIS, PTGI
ChromosomeChromosome number
20
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
20q13.13
SummarySummary 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
SNPsSNP 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
miRNAmiRNA 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 21873635
GO:0001516 Process Prostaglandin biosynthetic process IDA 15115769, 20122998, 21296955
GO:0004497 Function Monooxygenase activity IEA
GO:0005506 Function Iron ion binding IEA
GO:0005515 Function Protein binding IPI 20122998
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
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
Sequence
Sequence length 500
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
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
Causal
Disease name Disease term dbSNP ID References
Hypertension Essential Hypertension rs13306026, rs13333226
Lung cancer Malignant neoplasm of lung rs121913530, rs121913529, rs878855122, rs1057519784, rs770315135 11830527
Patent ductus arteriosus Patent ductus arteriosus, Patent Ductus Arteriosus Familial rs80338911, rs879253870, rs879253871, rs879255278, rs879255279, rs879253872 19336370
Schizophrenia Schizophrenia, Schizophrenia, Childhood rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313 28991256, 25056061, 30285260, 31268507, 29483656, 26198764, 26508570
Unknown
Disease name Disease term dbSNP ID References
Essential hypertension NON RARE IN EUROPE: Essential hypertension
Lung neoplasms Lung Neoplasms 11830527
Miscarriage Miscarriage 18539642
Stevens-johnson syndrome Toxic Epidermal Necrolysis, Stevens-Johnson Syndrome, Drug-Induced Stevens Johnson Syndrome, Mycoplasma-Induced Stevens-Johnson Syndrome, Stevens-Johnson Syndrome Toxic Epidermal Necrolysis Spectrum 25811541

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