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.
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Prostaglandin I2 synthase |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
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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.
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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 |
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miRNAmiRNA information provided by mirtarbase database.
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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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 |
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Sequence |
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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.
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Associated diseases
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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 |
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Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Essential hypertension |
NON RARE IN EUROPE: Essential hypertension |
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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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