Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	29785
Gene name	Cytochrome P450 family 2 subfamily S member 1
Gene symbol	CYP2S1
Synonyms (NCBI Gene)	CYPIIS1
Chromosome	19
Chromosome location	19q13.2
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. This protein local

Show/Hide all (61)

miRTarBase ID	miRNA	Experiments	Reference
MIRT437576	hsa-miR-147a	MicroarrayqRT-PCR	22815788
MIRT921367	hsa-miR-103a	CLIP-seq
MIRT921368	hsa-miR-107	CLIP-seq
MIRT921369	hsa-miR-1227	CLIP-seq
MIRT921370	hsa-miR-15a	CLIP-seq
MIRT921371	hsa-miR-15b	CLIP-seq
MIRT921372	hsa-miR-16	CLIP-seq
MIRT921373	hsa-miR-1914	CLIP-seq
MIRT921374	hsa-miR-195	CLIP-seq
MIRT921375	hsa-miR-297	CLIP-seq
MIRT921376	hsa-miR-3147	CLIP-seq
MIRT921377	hsa-miR-3170	CLIP-seq
MIRT921378	hsa-miR-3174	CLIP-seq
MIRT921379	hsa-miR-3177-5p	CLIP-seq
MIRT921380	hsa-miR-339-5p	CLIP-seq
MIRT921381	hsa-miR-3659	CLIP-seq
MIRT921382	hsa-miR-3665	CLIP-seq
MIRT921383	hsa-miR-3934	CLIP-seq
MIRT921384	hsa-miR-3935	CLIP-seq
MIRT921385	hsa-miR-409-5p	CLIP-seq
MIRT921386	hsa-miR-424	CLIP-seq
MIRT921387	hsa-miR-4269	CLIP-seq
MIRT921388	hsa-miR-4276	CLIP-seq
MIRT921389	hsa-miR-4425	CLIP-seq
MIRT921390	hsa-miR-4474-3p	CLIP-seq
MIRT921391	hsa-miR-4524	CLIP-seq
MIRT921392	hsa-miR-4645-5p	CLIP-seq
MIRT921393	hsa-miR-4658	CLIP-seq
MIRT921394	hsa-miR-4673	CLIP-seq
MIRT921395	hsa-miR-4733-3p	CLIP-seq
MIRT921396	hsa-miR-4736	CLIP-seq
MIRT921397	hsa-miR-4755-3p	CLIP-seq
MIRT921398	hsa-miR-4763-5p	CLIP-seq
MIRT921399	hsa-miR-497	CLIP-seq
MIRT921400	hsa-miR-503	CLIP-seq
MIRT921401	hsa-miR-567	CLIP-seq
MIRT921402	hsa-miR-574-5p	CLIP-seq
MIRT921403	hsa-miR-604	CLIP-seq
MIRT921404	hsa-miR-646	CLIP-seq
MIRT921405	hsa-miR-647	CLIP-seq
MIRT921406	hsa-miR-670	CLIP-seq
MIRT1972998	hsa-miR-3192	CLIP-seq
MIRT1972999	hsa-miR-4438	CLIP-seq
MIRT1973000	hsa-miR-4505	CLIP-seq
MIRT1973001	hsa-miR-4693-3p	CLIP-seq
MIRT1973002	hsa-miR-513a-5p	CLIP-seq
MIRT2208628	hsa-miR-147	CLIP-seq
MIRT2208629	hsa-miR-1909	CLIP-seq
MIRT2208630	hsa-miR-214	CLIP-seq
MIRT2208631	hsa-miR-3127-3p	CLIP-seq
MIRT2208632	hsa-miR-3619-5p	CLIP-seq
MIRT2208633	hsa-miR-3911	CLIP-seq
MIRT921387	hsa-miR-4269	CLIP-seq
MIRT2208634	hsa-miR-4315	CLIP-seq
MIRT921390	hsa-miR-4474-3p	CLIP-seq
MIRT2208635	hsa-miR-593	CLIP-seq
MIRT2208636	hsa-miR-644	CLIP-seq
MIRT2208637	hsa-miR-663b	CLIP-seq
MIRT2208638	hsa-miR-761	CLIP-seq
MIRT2208639	hsa-miR-890	CLIP-seq
MIRT2386662	hsa-miR-2277-3p	CLIP-seq

Show/Hide all (35)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004497	Function	Monooxygenase activity	IDA	12711469
GO:0004497	Function	Monooxygenase activity	IEA
GO:0004796	Function	Thromboxane-A synthase activity	IDA	21068195
GO:0004796	Function	Thromboxane-A synthase activity	IEA
GO:0005506	Function	Iron ion binding	IEA
GO:0005515	Function	Protein binding	IPI	25416956, 32296183
GO:0005737	Component	Cytoplasm	IBA
GO:0005783	Component	Endoplasmic reticulum	IDA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006631	Process	Fatty acid metabolic process	IEA
GO:0006690	Process	Icosanoid metabolic process	IDA	21068195
GO:0006693	Process	Prostaglandin metabolic process	IDA	21068195
GO:0006805	Process	Xenobiotic metabolic process	IBA
GO:0008392	Function	Arachidonate epoxygenase activity	IBA
GO:0008401	Function	Retinoic acid 4-hydroxylase activity	TAS
GO:0016020	Component	Membrane	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016705	Function	Oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	IEA
GO:0016712	Function	Oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen	IBA
GO:0016712	Function	Oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen	IEA
GO:0016829	Function	Lyase activity	IEA
GO:0016836	Function	Hydro-lyase activity	IDA	21068195
GO:0016853	Function	Isomerase activity	IEA
GO:0019373	Process	Epoxygenase P450 pathway	IBA
GO:0020037	Function	Heme binding	IBA
GO:0020037	Function	Heme binding	IEA
GO:0036134	Function	12-hydroxyheptadecatrienoic acid synthase activity	IEA
GO:0042573	Process	Retinoic acid metabolic process	IDA	12711469
GO:0043231	Component	Intracellular membrane-bounded organelle	IBA
GO:0046872	Function	Metal ion binding	IEA
GO:0106256	Function	Hydroperoxy icosatetraenoate dehydratase activity	IEA
GO:1903604	Process	Cytochrome metabolic process	TAS

MIM	HGNC	e!Ensembl
611529	15654	ENSG00000167600

Q96SQ9

Protein name

Cytochrome P450 2S1 (EC 1.14.14.-) (CYPIIS1) (Hydroperoxy icosatetraenoate dehydratase) (EC 4.2.1.152) (Thromboxane-A synthase) (EC 5.3.99.5)

Protein function

A cytochrome P450 monooxygenase involved in the metabolism of retinoids and eicosanoids (PubMed:12711469, PubMed:21068195). In epidermis, may contribute to the oxidative metabolism of all-trans-retinoic acid. For this activity, uses molecular ox

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00067	p450	33 → 492	Cytochrome P450	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed at higher levels in extrahepatic tissues including trachea, lung, stomach, small intestine, colon, kidney, breast, placenta and spleen (PubMed:11181079, PubMed:12711469). Expressed in peripheral blood leukocytes (PubMed:11181

Sequence

MEATGTWALLLALALLLLLTLALSGTRARGHLPPGPTPLPLLGNLLQLRPGALYSGLMRL
SKKYGPVFTIYLGPWRPVVVLVGQEAVREALGGQAEEFSGRGTVAMLEGTFDGHGVFFSN
GERWRQLRKFTMLALRDLGMGKREGEELIQAEARCLVETFQGTEGRPFDPSLLLAQATSN
VVCSLLFGLRFSYEDKEFQAVVRAAGGTLLGVSSQGGQTYEMFSWFLRPLPGPHKQLLHH
VSTLAAFTVRQVQQHQGNLDASGPARDLVDAFLLKMAQEEQNPGTEFTNKNMLMTVIYLL
FAGTMTVSTTVGYTLLLLMKYPHVQKWVREELNRELGAGQAPSLGDRTRLPYTDAVLHEA
QRLLALVPMGIPRTLMRTTRFRGYTLPQGTEVFPLLGSILHDPNIFKHPEEFNPDRFLDA
DGRFRKHEAFLPFSLGKRVCLGEGLAKAELFLFFTTILQAFSLESPCPPDTLSLKPTVSG
LFNIPPAFQLQVRPTDLHSTTQTR

Sequence length

504

Interactions

View interactions

	KEGG		Reactome
	Retinol metabolism Metabolism of xenobiotics by cytochrome P450 Metabolic pathways		Miscellaneous substrates Xenobiotics CYP2E1 reactions

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)

Show/Hide Unknown Diseases (6)

Phenotype Name	Clinical Significance	Source	Evidence Score
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.
AUTISM SPECTRUM DISORDER	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NASAL CAVITY POLYP	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NASAL DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (20)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acute Erythroblastic Leukemia	Erythroblastic Leukemia	BEFREE	1714723		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adrenocortical carcinoma	Adrenocortical carcinoma	BEFREE	28073588		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adrenocortical Carcinoma	Adrenocortical carcinoma	Pubtator	28073588	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	36769199	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	31561186		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	35902379	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal	Ductal carcinoma	Pubtator	35902379	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	25557876		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	27609465	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	BEFREE	12711469		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ghosal Hematodiaphyseal Dysplasia	Ghosal Hematodiaphyseal Dysplasia	BEFREE	31395426		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	19713358	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	31561186		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	25557876		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyposis	GWASCAT_DG	30643255		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	25557876, 31561186		★★★★★ ★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	12711469		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriasis	Psoriasis	CTD_human_DG	12711469		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pustulosis of Palms and Soles	Palmoplantar Pustules	CTD_human_DG	12711469		★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	34825467	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

CYP2S1 (cytochrome P450 family 2 subfamily S member 1)