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

Gene Gene information from NCBI Gene database. Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	1582
Gene name	Cytochrome P450 family 8 subfamily B member 1
Gene symbol	CYP8B1
Synonyms (NCBI Gene)	CP8BCYP12CYPVIIIB1
Chromosome	3
Chromosome location	3p22.1
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 endoplasmic r

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miRTarBase ID	miRNA	Experiments	Reference
MIRT000468	hsa-miR-422a	qRT-PCRLuciferase reporter assay	20351063
MIRT047552	hsa-miR-10a-5p	CLASH	23622248
MIRT458810	hsa-miR-6771-3p	PAR-CLIP	23592263
MIRT458809	hsa-miR-302f	PAR-CLIP	23592263
MIRT458808	hsa-miR-4695-5p	PAR-CLIP	23592263
MIRT458807	hsa-miR-1910-3p	PAR-CLIP	23592263
MIRT458806	hsa-miR-6511a-5p	PAR-CLIP	23592263
MIRT458805	hsa-miR-6808-5p	PAR-CLIP	23592263
MIRT458804	hsa-miR-6893-5p	PAR-CLIP	23592263
MIRT458803	hsa-miR-940	PAR-CLIP	23592263
MIRT458802	hsa-miR-4768-3p	PAR-CLIP	23592263
MIRT458801	hsa-miR-665	PAR-CLIP	23592263
MIRT458800	hsa-miR-6840-3p	PAR-CLIP	23592263
MIRT458799	hsa-miR-4649-3p	PAR-CLIP	23592263
MIRT458798	hsa-miR-302a-5p	PAR-CLIP	23592263
MIRT458797	hsa-miR-219b-3p	PAR-CLIP	23592263
MIRT458796	hsa-miR-1827	PAR-CLIP	23592263
MIRT458794	hsa-miR-2467-3p	PAR-CLIP	23592263
MIRT458795	hsa-miR-4722-5p	PAR-CLIP	23592263
MIRT458793	hsa-miR-4804-3p	PAR-CLIP	23592263
MIRT458792	hsa-miR-4720-3p	PAR-CLIP	23592263
MIRT458791	hsa-miR-3612	PAR-CLIP	23592263
MIRT458790	hsa-miR-650	PAR-CLIP	23592263
MIRT458797	hsa-miR-219b-3p	PAR-CLIP	27292025
MIRT458798	hsa-miR-302a-5p	PAR-CLIP	27292025
MIRT458809	hsa-miR-302f	PAR-CLIP	27292025
MIRT458808	hsa-miR-4695-5p	PAR-CLIP	27292025
MIRT458792	hsa-miR-4720-3p	PAR-CLIP	27292025
MIRT458793	hsa-miR-4804-3p	PAR-CLIP	27292025
MIRT458801	hsa-miR-665	PAR-CLIP	27292025
MIRT458810	hsa-miR-6771-3p	PAR-CLIP	27292025
MIRT458800	hsa-miR-6840-3p	PAR-CLIP	27292025
MIRT458810	hsa-miR-6771-3p	PAR-CLIP	23592263
MIRT458809	hsa-miR-302f	PAR-CLIP	23592263
MIRT458808	hsa-miR-4695-5p	PAR-CLIP	23592263
MIRT458807	hsa-miR-1910-3p	PAR-CLIP	23592263
MIRT458806	hsa-miR-6511a-5p	PAR-CLIP	23592263
MIRT458805	hsa-miR-6808-5p	PAR-CLIP	23592263
MIRT458804	hsa-miR-6893-5p	PAR-CLIP	23592263
MIRT458803	hsa-miR-940	PAR-CLIP	23592263
MIRT458802	hsa-miR-4768-3p	PAR-CLIP	23592263
MIRT458801	hsa-miR-665	PAR-CLIP	23592263
MIRT458800	hsa-miR-6840-3p	PAR-CLIP	23592263
MIRT458799	hsa-miR-4649-3p	PAR-CLIP	23592263
MIRT458798	hsa-miR-302a-5p	PAR-CLIP	23592263
MIRT458797	hsa-miR-219b-3p	PAR-CLIP	23592263
MIRT458796	hsa-miR-1827	PAR-CLIP	23592263
MIRT458794	hsa-miR-2467-3p	PAR-CLIP	23592263
MIRT458795	hsa-miR-4722-5p	PAR-CLIP	23592263
MIRT458793	hsa-miR-4804-3p	PAR-CLIP	23592263
MIRT458792	hsa-miR-4720-3p	PAR-CLIP	23592263
MIRT458791	hsa-miR-3612	PAR-CLIP	23592263
MIRT458790	hsa-miR-650	PAR-CLIP	23592263
MIRT921907	hsa-let-7a	CLIP-seq
MIRT921908	hsa-let-7b	CLIP-seq
MIRT921909	hsa-let-7c	CLIP-seq
MIRT921910	hsa-let-7d	CLIP-seq
MIRT921911	hsa-let-7e	CLIP-seq
MIRT921912	hsa-let-7f	CLIP-seq
MIRT921913	hsa-let-7g	CLIP-seq
MIRT921914	hsa-let-7i	CLIP-seq
MIRT921915	hsa-miR-1227	CLIP-seq
MIRT921916	hsa-miR-1255a	CLIP-seq
MIRT921917	hsa-miR-1255b	CLIP-seq
MIRT921918	hsa-miR-1279	CLIP-seq
MIRT921919	hsa-miR-142-3p	CLIP-seq
MIRT921920	hsa-miR-151-5p	CLIP-seq
MIRT921921	hsa-miR-151b	CLIP-seq
MIRT921922	hsa-miR-214	CLIP-seq
MIRT921923	hsa-miR-2964a-3p	CLIP-seq
MIRT921924	hsa-miR-3064-3p	CLIP-seq
MIRT921925	hsa-miR-3122	CLIP-seq
MIRT921926	hsa-miR-3150a-3p	CLIP-seq
MIRT921927	hsa-miR-3174	CLIP-seq
MIRT921928	hsa-miR-3175	CLIP-seq
MIRT921929	hsa-miR-342-5p	CLIP-seq
MIRT921930	hsa-miR-3619-5p	CLIP-seq
MIRT921931	hsa-miR-3689a-3p	CLIP-seq
MIRT921932	hsa-miR-3689c	CLIP-seq
MIRT921933	hsa-miR-3913-5p	CLIP-seq
MIRT921934	hsa-miR-3929	CLIP-seq
MIRT921935	hsa-miR-3942-3p	CLIP-seq
MIRT921936	hsa-miR-3977	CLIP-seq
MIRT921937	hsa-miR-4257	CLIP-seq
MIRT921938	hsa-miR-4278	CLIP-seq
MIRT921939	hsa-miR-4419b	CLIP-seq
MIRT921940	hsa-miR-4458	CLIP-seq
MIRT921941	hsa-miR-4478	CLIP-seq
MIRT921942	hsa-miR-4500	CLIP-seq
MIRT921943	hsa-miR-4514	CLIP-seq
MIRT921944	hsa-miR-4664-5p	CLIP-seq
MIRT921945	hsa-miR-4667-5p	CLIP-seq
MIRT921946	hsa-miR-4684-5p	CLIP-seq
MIRT921947	hsa-miR-4690-5p	CLIP-seq
MIRT921948	hsa-miR-4692	CLIP-seq
MIRT921949	hsa-miR-4700-5p	CLIP-seq
MIRT921950	hsa-miR-4716-3p	CLIP-seq
MIRT921951	hsa-miR-4728-5p	CLIP-seq
MIRT921952	hsa-miR-4773	CLIP-seq
MIRT921953	hsa-miR-4779	CLIP-seq
MIRT921954	hsa-miR-4781-3p	CLIP-seq
MIRT921955	hsa-miR-4795-5p	CLIP-seq
MIRT921956	hsa-miR-485-5p	CLIP-seq
MIRT921957	hsa-miR-522	CLIP-seq
MIRT921958	hsa-miR-548c-3p	CLIP-seq
MIRT921959	hsa-miR-761	CLIP-seq
MIRT921960	hsa-miR-921	CLIP-seq
MIRT921961	hsa-miR-939	CLIP-seq
MIRT921962	hsa-miR-98	CLIP-seq
MIRT1973076	hsa-miR-1184	CLIP-seq
MIRT1973077	hsa-miR-1285	CLIP-seq
MIRT921919	hsa-miR-142-3p	CLIP-seq
MIRT921923	hsa-miR-2964a-3p	CLIP-seq
MIRT921926	hsa-miR-3150a-3p	CLIP-seq
MIRT921927	hsa-miR-3174	CLIP-seq
MIRT921928	hsa-miR-3175	CLIP-seq
MIRT1973078	hsa-miR-3187-3p	CLIP-seq
MIRT1973079	hsa-miR-3187-5p	CLIP-seq
MIRT1973080	hsa-miR-3545-3p	CLIP-seq
MIRT1973081	hsa-miR-3926	CLIP-seq
MIRT921934	hsa-miR-3929	CLIP-seq
MIRT921937	hsa-miR-4257	CLIP-seq
MIRT1973082	hsa-miR-4418	CLIP-seq
MIRT921939	hsa-miR-4419b	CLIP-seq
MIRT1973083	hsa-miR-4435	CLIP-seq
MIRT1973084	hsa-miR-4466	CLIP-seq
MIRT921941	hsa-miR-4478	CLIP-seq
MIRT1973085	hsa-miR-4536	CLIP-seq
MIRT1973086	hsa-miR-4539	CLIP-seq
MIRT1973087	hsa-miR-4646-5p	CLIP-seq
MIRT921945	hsa-miR-4667-5p	CLIP-seq
MIRT921949	hsa-miR-4700-5p	CLIP-seq
MIRT1973088	hsa-miR-4701-5p	CLIP-seq
MIRT1973089	hsa-miR-4793-3p	CLIP-seq
MIRT1973090	hsa-miR-4797-5p	CLIP-seq
MIRT921956	hsa-miR-485-5p	CLIP-seq
MIRT1973091	hsa-miR-509-3-5p	CLIP-seq
MIRT1973092	hsa-miR-509-5p	CLIP-seq
MIRT1973093	hsa-miR-548s	CLIP-seq
MIRT1973094	hsa-miR-550a	CLIP-seq
MIRT1973095	hsa-miR-588	CLIP-seq
MIRT1973096	hsa-miR-612	CLIP-seq
MIRT1973097	hsa-miR-661	CLIP-seq
MIRT1973098	hsa-miR-675	CLIP-seq
MIRT1973099	hsa-miR-759	CLIP-seq
MIRT921960	hsa-miR-921	CLIP-seq
MIRT1973100	hsa-miR-933	CLIP-seq
MIRT921961	hsa-miR-939	CLIP-seq
MIRT1973076	hsa-miR-1184	CLIP-seq
MIRT2208754	hsa-miR-1228	CLIP-seq
MIRT1973077	hsa-miR-1285	CLIP-seq
MIRT921919	hsa-miR-142-3p	CLIP-seq
MIRT2208755	hsa-miR-1914	CLIP-seq
MIRT921923	hsa-miR-2964a-3p	CLIP-seq
MIRT921926	hsa-miR-3150a-3p	CLIP-seq
MIRT921927	hsa-miR-3174	CLIP-seq
MIRT921928	hsa-miR-3175	CLIP-seq
MIRT1973079	hsa-miR-3187-5p	CLIP-seq
MIRT2208756	hsa-miR-3714	CLIP-seq
MIRT2208757	hsa-miR-378	CLIP-seq
MIRT2208758	hsa-miR-378b	CLIP-seq
MIRT2208759	hsa-miR-378c	CLIP-seq
MIRT2208760	hsa-miR-378d	CLIP-seq
MIRT2208761	hsa-miR-378e	CLIP-seq
MIRT2208762	hsa-miR-378f	CLIP-seq
MIRT2208763	hsa-miR-378h	CLIP-seq
MIRT2208764	hsa-miR-378i	CLIP-seq
MIRT2208765	hsa-miR-3922-5p	CLIP-seq
MIRT921934	hsa-miR-3929	CLIP-seq
MIRT921937	hsa-miR-4257	CLIP-seq
MIRT1973082	hsa-miR-4418	CLIP-seq
MIRT921939	hsa-miR-4419b	CLIP-seq
MIRT921941	hsa-miR-4478	CLIP-seq
MIRT2208766	hsa-miR-4638-3p	CLIP-seq
MIRT921945	hsa-miR-4667-5p	CLIP-seq
MIRT2208767	hsa-miR-4677-3p	CLIP-seq
MIRT921949	hsa-miR-4700-5p	CLIP-seq
MIRT921953	hsa-miR-4779	CLIP-seq
MIRT1973089	hsa-miR-4793-3p	CLIP-seq
MIRT1973090	hsa-miR-4797-5p	CLIP-seq
MIRT921956	hsa-miR-485-5p	CLIP-seq
MIRT1973091	hsa-miR-509-3-5p	CLIP-seq
MIRT1973092	hsa-miR-509-5p	CLIP-seq
MIRT2208768	hsa-miR-513c	CLIP-seq
MIRT2208769	hsa-miR-514b-5p	CLIP-seq
MIRT1973094	hsa-miR-550a	CLIP-seq
MIRT1973096	hsa-miR-612	CLIP-seq
MIRT2208770	hsa-miR-617	CLIP-seq
MIRT1973097	hsa-miR-661	CLIP-seq
MIRT1973099	hsa-miR-759	CLIP-seq
MIRT921960	hsa-miR-921	CLIP-seq
MIRT921961	hsa-miR-939	CLIP-seq
MIRT1973077	hsa-miR-1285	CLIP-seq
MIRT921919	hsa-miR-142-3p	CLIP-seq
MIRT921924	hsa-miR-3064-3p	CLIP-seq
MIRT921927	hsa-miR-3174	CLIP-seq
MIRT1973079	hsa-miR-3187-5p	CLIP-seq
MIRT921937	hsa-miR-4257	CLIP-seq
MIRT2386678	hsa-miR-4691-3p	CLIP-seq
MIRT2386679	hsa-miR-4722-3p	CLIP-seq
MIRT2386680	hsa-miR-548al	CLIP-seq
MIRT1973096	hsa-miR-612	CLIP-seq
MIRT921960	hsa-miR-921	CLIP-seq
MIRT2447939	hsa-miR-1323	CLIP-seq
MIRT2447940	hsa-miR-3120-5p	CLIP-seq
MIRT2447941	hsa-miR-3613-3p	CLIP-seq
MIRT2447942	hsa-miR-3664-5p	CLIP-seq
MIRT2447943	hsa-miR-3672	CLIP-seq
MIRT2447944	hsa-miR-371-5p	CLIP-seq
MIRT2447945	hsa-miR-371b-5p	CLIP-seq
MIRT2447946	hsa-miR-4432	CLIP-seq
MIRT2447947	hsa-miR-4522	CLIP-seq
MIRT2447948	hsa-miR-495	CLIP-seq
MIRT2447949	hsa-miR-548m	CLIP-seq
MIRT2447950	hsa-miR-548o	CLIP-seq
MIRT2447939	hsa-miR-1323	CLIP-seq
MIRT2447940	hsa-miR-3120-5p	CLIP-seq
MIRT2447942	hsa-miR-3664-5p	CLIP-seq
MIRT2447944	hsa-miR-371-5p	CLIP-seq
MIRT2447945	hsa-miR-371b-5p	CLIP-seq
MIRT2447946	hsa-miR-4432	CLIP-seq
MIRT2447947	hsa-miR-4522	CLIP-seq
MIRT2447948	hsa-miR-495	CLIP-seq
MIRT2447950	hsa-miR-548o	CLIP-seq
MIRT1973076	hsa-miR-1184	CLIP-seq
MIRT1973077	hsa-miR-1285	CLIP-seq
MIRT2447939	hsa-miR-1323	CLIP-seq
MIRT921920	hsa-miR-151-5p	CLIP-seq
MIRT921921	hsa-miR-151b	CLIP-seq
MIRT921923	hsa-miR-2964a-3p	CLIP-seq
MIRT2447940	hsa-miR-3120-5p	CLIP-seq
MIRT921925	hsa-miR-3122	CLIP-seq
MIRT921926	hsa-miR-3150a-3p	CLIP-seq
MIRT921928	hsa-miR-3175	CLIP-seq
MIRT1973079	hsa-miR-3187-5p	CLIP-seq
MIRT2447941	hsa-miR-3613-3p	CLIP-seq
MIRT2447942	hsa-miR-3664-5p	CLIP-seq
MIRT2447943	hsa-miR-3672	CLIP-seq
MIRT921931	hsa-miR-3689a-3p	CLIP-seq
MIRT921932	hsa-miR-3689c	CLIP-seq
MIRT2447944	hsa-miR-371-5p	CLIP-seq
MIRT2447945	hsa-miR-371b-5p	CLIP-seq
MIRT921933	hsa-miR-3913-5p	CLIP-seq
MIRT921934	hsa-miR-3929	CLIP-seq
MIRT1973082	hsa-miR-4418	CLIP-seq
MIRT921939	hsa-miR-4419b	CLIP-seq
MIRT2447946	hsa-miR-4432	CLIP-seq
MIRT921941	hsa-miR-4478	CLIP-seq
MIRT2512589	hsa-miR-451b	CLIP-seq
MIRT2447947	hsa-miR-4522	CLIP-seq
MIRT921945	hsa-miR-4667-5p	CLIP-seq
MIRT921946	hsa-miR-4684-5p	CLIP-seq
MIRT2512590	hsa-miR-4696	CLIP-seq
MIRT921949	hsa-miR-4700-5p	CLIP-seq
MIRT921951	hsa-miR-4728-5p	CLIP-seq
MIRT1973089	hsa-miR-4793-3p	CLIP-seq
MIRT1973090	hsa-miR-4797-5p	CLIP-seq
MIRT921956	hsa-miR-485-5p	CLIP-seq
MIRT2447948	hsa-miR-495	CLIP-seq
MIRT1973091	hsa-miR-509-3-5p	CLIP-seq
MIRT1973092	hsa-miR-509-5p	CLIP-seq
MIRT2512591	hsa-miR-548aa	CLIP-seq
MIRT921958	hsa-miR-548c-3p	CLIP-seq
MIRT2447950	hsa-miR-548o	CLIP-seq
MIRT1973094	hsa-miR-550a	CLIP-seq
MIRT1973096	hsa-miR-612	CLIP-seq
MIRT1973097	hsa-miR-661	CLIP-seq
MIRT1973099	hsa-miR-759	CLIP-seq
MIRT921961	hsa-miR-939	CLIP-seq
MIRT1973076	hsa-miR-1184	CLIP-seq
MIRT1973077	hsa-miR-1285	CLIP-seq
MIRT2447939	hsa-miR-1323	CLIP-seq
MIRT921920	hsa-miR-151-5p	CLIP-seq
MIRT921921	hsa-miR-151b	CLIP-seq
MIRT2447940	hsa-miR-3120-5p	CLIP-seq
MIRT921925	hsa-miR-3122	CLIP-seq
MIRT921926	hsa-miR-3150a-3p	CLIP-seq
MIRT921928	hsa-miR-3175	CLIP-seq
MIRT1973079	hsa-miR-3187-5p	CLIP-seq
MIRT2447942	hsa-miR-3664-5p	CLIP-seq
MIRT2447943	hsa-miR-3672	CLIP-seq
MIRT921931	hsa-miR-3689a-3p	CLIP-seq
MIRT921932	hsa-miR-3689c	CLIP-seq
MIRT2447944	hsa-miR-371-5p	CLIP-seq
MIRT2447945	hsa-miR-371b-5p	CLIP-seq
MIRT921933	hsa-miR-3913-5p	CLIP-seq
MIRT921934	hsa-miR-3929	CLIP-seq
MIRT1973082	hsa-miR-4418	CLIP-seq
MIRT921939	hsa-miR-4419b	CLIP-seq
MIRT2447946	hsa-miR-4432	CLIP-seq
MIRT921941	hsa-miR-4478	CLIP-seq
MIRT2512589	hsa-miR-451b	CLIP-seq
MIRT2447947	hsa-miR-4522	CLIP-seq
MIRT921945	hsa-miR-4667-5p	CLIP-seq
MIRT921946	hsa-miR-4684-5p	CLIP-seq
MIRT2512590	hsa-miR-4696	CLIP-seq
MIRT921949	hsa-miR-4700-5p	CLIP-seq
MIRT921951	hsa-miR-4728-5p	CLIP-seq
MIRT1973089	hsa-miR-4793-3p	CLIP-seq
MIRT1973090	hsa-miR-4797-5p	CLIP-seq
MIRT921956	hsa-miR-485-5p	CLIP-seq
MIRT2447948	hsa-miR-495	CLIP-seq
MIRT1973091	hsa-miR-509-3-5p	CLIP-seq
MIRT1973092	hsa-miR-509-5p	CLIP-seq
MIRT2512591	hsa-miR-548aa	CLIP-seq
MIRT921958	hsa-miR-548c-3p	CLIP-seq
MIRT2447950	hsa-miR-548o	CLIP-seq
MIRT1973094	hsa-miR-550a	CLIP-seq
MIRT1973096	hsa-miR-612	CLIP-seq
MIRT1973097	hsa-miR-661	CLIP-seq
MIRT1973099	hsa-miR-759	CLIP-seq
MIRT921961	hsa-miR-939	CLIP-seq

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Transcription factor	Regulation	Reference
NR0B2	Unknown	15581596

Show/Hide all (25)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004497	Function	Monooxygenase activity	IEA
GO:0005506	Function	Iron ion binding	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	ISS
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006694	Process	Steroid biosynthetic process	IEA
GO:0006699	Process	Bile acid biosynthetic process	IEA
GO:0006699	Process	Bile acid biosynthetic process	ISS
GO:0006699	Process	Bile acid biosynthetic process	TAS
GO:0008397	Function	Sterol 12-alpha-hydroxylase activity	IBA
GO:0008397	Function	Sterol 12-alpha-hydroxylase activity	IEA
GO:0008397	Function	Sterol 12-alpha-hydroxylase activity	ISS
GO:0008397	Function	Sterol 12-alpha-hydroxylase activity	TAS	10051404
GO:0016020	Component	Membrane	IEA
GO:0016125	Process	Sterol metabolic process	TAS
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016705	Function	Oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	IEA
GO:0019825	Function	Oxygen binding	TAS	10051404
GO:0020037	Function	Heme binding	IEA
GO:0031667	Process	Response to nutrient levels	IEA
GO:0045797	Process	Positive regulation of intestinal cholesterol absorption	ISS
GO:0046872	Function	Metal ion binding	IEA
GO:0070723	Process	Response to cholesterol	IEA

MIM	HGNC	e!Ensembl
602172	2653	ENSG00000180432

Q9UNU6

Protein name

7-alpha-hydroxycholest-4-en-3-one 12-alpha-hydroxylase (EC 1.14.14.139) (7-alpha-hydroxy-4-cholesten-3-one 12-alpha-hydroxylase) (CYPVIIIB1) (Cytochrome P450 8B1) (Sterol 12-alpha-hydroxylase)

Protein function

A cytochrome P450 monooxygenase involved in primary bile acid biosynthesis. Catalyzes the 12alpha-hydroxylation of 7alpha-hydroxy-4-cholesten-3-one, an intermediate metabolite in cholic acid biosynthesis (PubMed:10051404). Controls biliary balan

PDB

7LYX , 8EOH

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00067	p450	33 → 493	Cytochrome P450	Domain

Tissue specificity

TISSUE SPECIFICITY: Liver. {ECO:0000269|PubMed:10051404}.

Sequence

MVLWGPVLGALLVVIAGYLCLPGMLRQRRPWEPPLDKGTVPWLGHAMAFRKNMFEFLKRM
RTKHGDVFTVQLGGQYFTFVMDPLSFGSILKDTQRKLDFGQYAKKLVLKVFGYRSVQGDH
EMIHSASTKHLRGDGLKDLNETMLDSLSFVMLTSKGWSLDASCWHEDSLFRFCYYILFTA
GYLSLFGYTKDKEQDLLQAGELFMEFRKFDLLFPRFVYSLLWPREWLEVGRLQRLFHKML
SVSHSQEKEGISNWLGNMLQFLREQGVPSAMQDKFNFMMLWASQGNTGPTSFWALLYLLK
HPEAIRAVREEATQVLGEARLETKQSFAFKLGALQHTPVLDSVVEETLRLRAAPTLLRLV
HEDYTLKMSSGQEYLFRHGDILALFPYLSVHMDPDIHPEPTVFKYDRFLNPNGSRKVDFF
KTGKKIHHYTMPWGSGVSICPGRFFALSEVKLFILLMVTHFDLELVDPDTPLPHVDPQRW
GFGTMQPSHDVRFRYRLHPTE

Sequence length

501

Interactions

View interactions

	KEGG		Reactome
	Primary bile acid biosynthesis Metabolic pathways PPAR signaling pathway		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)

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 (7)

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.
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOLESTASIS	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (21)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Alzheimer`s Disease	Alzheimer disease	GWASCAT_DG	25340798		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	30628708, 34257549	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholelithiasis	Cholelithiasis	BEFREE	23216301		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholestasis	CTD_human_DG	22461449		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholestasis	Cholelithiasis	Pubtator	25798860	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholestasis	Cholestasis	BEFREE	30077711		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholesterol gallstones	Cholesterol gallstones	BEFREE	24226095		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	27341022	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	24226095, 29066462		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	24226095, 29066462		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	36107630, 36806682	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	30232649		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	36168622	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	29066462		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	23391614, 25399406		★★★★★ ★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	36107630	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	25798860	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	29481310		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	29481310		★★★★★ ★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	29066462, 29481310		★★★★★ ★☆☆☆☆ Found in Text Mining only
Xanthomatosis Cerebrotendinous	Xanthomatosis	Pubtator	15576845	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

CYP8B1 (cytochrome P450 family 8 subfamily B member 1)