Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1582
Gene name Gene Name - the full gene name approved by the HGNC.
Cytochrome P450 family 8 subfamily B member 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CYP8B1
Synonyms (NCBI Gene) Gene synonyms aliases
CP8B, CYP12, CYPVIIIB1
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3p22.1
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. This endoplasmic r
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT000468 hsa-miR-422a qRT-PCR, Luciferase 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
Transcription factors
Transcription factor Regulation Reference
NR0B2 Unknown 15581596
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005506 Function Iron ion binding IEA
GO:0005789 Component Endoplasmic reticulum membrane ISS
GO:0005789 Component Endoplasmic reticulum membrane TAS
GO:0006699 Process Bile acid biosynthetic process ISS
GO:0006699 Process Bile acid biosynthetic process TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
602172 2653 ENSG00000180432
Protein
UniProt ID 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
Sequence length 501
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  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)
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Alzheimer disease Alzheimer`s Disease rs63750215, rs28936379, rs63749851, rs63749884, rs28936380, rs63750048, rs63750579, rs63750264, rs63749964, rs63750671, rs281865161, rs63750066, rs63750399, rs63750734, rs63751039
View all (65 more)
25340798
Cholestasis Cholestasis rs121909103, rs751511532, rs376368459, rs762702807, rs1578490102, rs1578499691, rs1578504946, rs1317656688, rs199791850, rs1452792080, rs1578491039 22461449
Associations from Text Mining
Disease Name Relationship Type References
Carcinoma Hepatocellular Associate 30628708, 34257549
Cholestasis Associate 25798860
Colorectal Neoplasms Associate 27341022
Diabetes Mellitus Type 2 Associate 36107630, 36806682
Esophageal Squamous Cell Carcinoma Associate 36168622
Inflammation Associate 15550563
Insulin Resistance Associate 36107630
Liver Failure Stimulate 25798860
Neoplasms Associate 36168622
Non alcoholic Fatty Liver Disease Associate 23391614, 36806682