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CYP8B1 Gene

protein-coding   GIFtS: 54
GCID: GC03M042888

Cytochrome P450, Family 8, Subfamily B, Polypeptide 1

(Previous names: cytochrome P450, subfamily VIIIB (sterol 12-alpha-hydroxylase),...)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Cytochrome P450, Family 8, Subfamily B, Polypeptide 11 2     CYPVIIIB12 3
CYP122 3 5     7 Alpha-Hydroxy-4-Cholesten-3-One 12-Alpha-Hydroxylase2
Cytochrome P450, Subfamily VIIIB (Sterol 12-Alpha-Hydroxylase),
Polypeptide 11 2
     7-Alpha-Hydroxycholest-4-En-3-One 12-Alpha-Hydroxylase2
Cytochrome P450 8B12 3     CP8B2
Sterol 12-Alpha-Hydroxylase2 3     EC 1.14.13.953
7-Alpha-Hydroxy-4-Cholesten-3-One 12-Alpha-Hydroxylase2 3     

External Ids:    HGNC: 26531   Entrez Gene: 15822   Ensembl: ENSG000001804327   OMIM: 6021725   UniProtKB: Q9UNU63   

Export aliases for CYP8B1 gene to outside databases

Previous GC identifers: GC03M042218 GC03M042094 GC03M042732 GC03M042874


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for CYP8B1 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 reticulum membrane protein catalyzes the conversion of 7
alpha-hydroxy-4-cholesten-3-one into 7-alpha,12-alpha-dihydroxy-4-cholesten-3-one. The balance between these two
steroids determines the relative amounts of cholic acid and chenodeoxycholic acid both of which are secreted in
the bile and affect the solubility of cholesterol. This gene is unique among the cytochrome P450 genes in that it
is intronless. (provided by RefSeq, Jul 2008)

GeneCards Summary for CYP8B1 Gene:
CYP8B1 (cytochrome P450, family 8, subfamily B, polypeptide 1) is a protein-coding gene. Diseases associated with CYP8B1 include cerebrotendinous xanthomatosis, and xanthomatosis. GO annotations related to this gene include electron carrier activity and heme binding. An important paralog of this gene is CYP39A1.

UniProtKB/Swiss-Prot: CP8B1_HUMAN, Q9UNU6
Function: Involved in bile acid synthesis and is responsible for the conversion of 7
alpha-hydroxy-4-cholesten-3-one into 7 alpha, 12 alpha-dihydroxy-4-cholesten-3-one. Responsible for the balance
between formation of cholic acid and chenodeoxycholic acid. Has a rather broad substrate specificity including a
number of 7-alpha-hydroxylated C27 steroids

Gene Wiki entry for CYP8B1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000003.12  NC_018914.2  NT_022517.19  
Regulatory elements:
   Regulatory transcription factor binding sites in the CYP8B1 gene promoter:
         c-Fos   AP-1   ATF-2   Pax-2a   HEN1   Pax-2b   ARP-1   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): CYP8B1 promoter sequence
   Search Chromatin IP Primers for CYP8B1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CYP8B1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3p22.1   Ensembl cytogenetic band:  3p22.1   HGNC cytogenetic band: 3p22.1

CYP8B1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CYP8B1 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M042888:  view genomic region     (about GC identifiers)

Start:
42,897,497 bp from pter      End:
42,917,633 bp from pter
Size:
20,137 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: CP8B1_HUMAN, Q9UNU6 (See protein sequence)
Recommended Name: 7-alpha-hydroxycholest-4-en-3-one 12-alpha-hydroxylase  
Size: 501 amino acids; 58068 Da
Cofactor: Heme group (By similarity)
Secondary accessions: B2RCY3 O75958 Q6NWT2 Q6NWT3

Explore the universe of human proteins at neXtProt for CYP8B1: NX_Q9UNU6

Explore proteomics data for CYP8B1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See CYP8B1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_004382.2  
    ENSEMBL proteins: 
     ENSP00000404499   ENSP00000318867  
    Reactome Protein details: Q9UNU6

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    CYP: Cytochrome P450s

    IUPHAR Guide to PHARMACOLOGY protein family classification: CYP8B1
    CYP5, CYP7 and CYP8 families

    3 InterPro protein domains:
     IPR001128 Cyt_P450
     IPR002403 Cyt_P450_E_grp-IV
     IPR024204 Cyt_P450_CYP7A1-type

    Graphical View of Domain Structure for InterPro Entry Q9UNU6

    ProtoNet protein and cluster: Q9UNU6

    1 Blocks protein domain: IPB002403 E-class P450 group IV signature

    UniProtKB/Swiss-Prot: CP8B1_HUMAN, Q9UNU6
    Similarity: Belongs to the cytochrome P450 family


    CYP8B1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CP8B1_HUMAN, Q9UNU6
    Function: Involved in bile acid synthesis and is responsible for the conversion of 7
    alpha-hydroxy-4-cholesten-3-one into 7 alpha, 12 alpha-dihydroxy-4-cholesten-3-one. Responsible for the balance
    between formation of cholic acid and chenodeoxycholic acid. Has a rather broad substrate specificity including a
    number of 7-alpha-hydroxylated C27 steroids
    Catalytic activity: 7-alpha-hydroxycholest-4-en-3-one + NADPH + O(2) =
    7-alpha,12-alpha-dihydroxycholest-4-en-3-one + NADP(+) + H(2)O

         Genatlas biochemistry entry for CYP8B1:
    cytochrome P450 subfamily VIIIB polypeptide 1,hepatic microsomal enzyme,involved in bile synthesis,controlling the
    ratio of cholic acid over chenodeoxycholic cholic acid in bile

         Enzyme Number (IUBMB): EC 1.14.13.951

         Gene Ontology (GO): Selected molecular function terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004497monooxygenase activity ----
    GO:0005506iron ion binding IEA--
    GO:0008397sterol 12-alpha-hydroxylase activity IBA--
    GO:0016705oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen ----
    GO:0019825oxygen binding TAS10051404
         
    CYP8B1 for ontologies           About GeneDecksing


    Phenotypes:
         3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Cyp8b1):
     digestive/alimentary  homeostasis/metabolism  liver/biliary system 

    CYP8B1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Cyp8b1tm1Rus for CYP8B1

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    5 qRT-PCR Assays for microRNAs that regulate CYP8B1:
    hsa-miR-203 hsa-miR-4311 hsa-miR-450b-5p hsa-miR-3605-5p hsa-miR-4257
    SwitchGear 3'UTR luciferase reporter plasmidCYP8B1 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    CP8B1_HUMAN, Q9UNU6: Endoplasmic reticulum membrane; Single-pass membrane protein. Microsome membrane;
    Single-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    extracellular2
    golgi apparatus2
    nucleus2
    lysosome1
    mitochondrion1
    peroxisome1
    plasma membrane1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005783endoplasmic reticulum IBA--
    GO:0005789endoplasmic reticulum membrane TAS--
    GO:0016021integral component of membrane IEA--

    CYP8B1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for CYP8B1 About   (see all 7)  
    See pathways by source

    SuperPathContained pathways About
    1Synthesis of bile acids and bile salts
    Synthesis of bile acids and bile salts0.88
    Sterols are 12-hydroxylated by CYP8B10.00
    Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol0.88
    Synthesis of bile acids and bile salts via 27-hydroxycholesterol0.00
    Bile acid and bile salt metabolism0.73
    Primary bile acid biosynthesis0.00
    bile acid biosynthesis, neutral pathway0.48
    Synthesis of bile acids and bile salts via 24-hydroxycholesterol0.00
    2Cytochrome P450 - arranged by substrate type
    Cytochrome P450 - arranged by substrate type0.75
    Eicosanoids0.00
    Phase 1 - Functionalization of compounds0.75
    Endogenous sterols0.00
    cytochrome P4500.74
    3Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    Metabolic pathways0.38
    4Biological oxidations
    Biological oxidations0.56
    metapathway biotransformation0.42
    5Arachidonic acid metabolism
    Arachidonic acid metabolism0.40
    Synthesis of Prostaglandins (PG) and Thromboxanes (TX)0.00

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    4 BioSystems Pathways for CYP8B1
        cytochrome P450
    Nuclear receptors in lipid metabolism and toxicity
    bile acid biosynthesis, neutral pathway
    metapathway biotransformation

    Selected Reactome Pathways for CYP8B1 (see all 6)
        Synthesis of bile acids and bile salts via 24-hydroxycholesterol
    Eicosanoids
    Sterols are 12-hydroxylated by CYP8B1
    Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol
    Synthesis of bile acids and bile salts via 27-hydroxycholesterol


    3 Kegg Pathways  (Kegg details for CYP8B1):
        Primary bile acid biosynthesis
    Metabolic pathways
    PPAR signaling pathway


    CYP8B1 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including CYP8B1: 
              Drug Metabolism: Phase I Enzymes in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for CYP8B1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for CYP8B1 (ENSP000003188674) via UniProtKB, MINT, STRING, and/or I2D (see all 35)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    AKR1D1ENSP000002423754STRING: ENSP00000242375
    C14orf1ENSP000002563194STRING: ENSP00000256319
    FDFT1ENSP000002205844STRING: ENSP00000220584
    LSSENSP000003487624STRING: ENSP00000348762
    SIGMAR1ENSP000002770104STRING: ENSP00000277010
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006629lipid metabolic process IBA--
    GO:0006699bile acid biosynthetic process TAS--
    GO:0006805xenobiotic metabolic process TAS--
    GO:0008206bile acid metabolic process TAS--
    GO:0016125sterol metabolic process TAS--

    CYP8B1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for CYP8B1 (CP8B1)

    3 HMDB Compounds for CYP8B1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Heme(protoporphyrinato)iron (see all 19)14875-96-8--
    NADPAdenine-nicotinamide dinucleotide phosphate (see all 18)53-59-8--
    NADPH2'-(dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide (see all 23)53-57-6--

    4 Novoseek inferred chemical compound relationships for CYP8B1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cholic acid 88.2 7 16271991 (1), 11741989 (1), 10051404 (1), 17585019 (1) (see all 7)
    chenodeoxycholic acid 87.2 2 10051404 (1), 15550563 (1)
    sterol 78.3 11 10051404 (2), 14643796 (2), 15550563 (2), 16937432 (1) (see all 8)
    cholesterol 52 6 11535594 (2), 16937432 (1), 10051404 (1), 17585019 (1) (see all 5)



    CYP8B1 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for CYP8B1 gene: 
    NM_004391.2  

    Unigene Cluster for CYP8B1:

    Cytochrome P450, family 8, subfamily B, polypeptide 1
    Hs.447793  [show with all ESTs]
    Unigene Representative Sequence: NM_004391
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000437102 ENST00000316161(uc003cmh.3)
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      QuantiFast Probe-based Assays in human, mouse, rat CYP8B1

    Additional mRNA sequence: 

    AF090318.1 AK315330.1 BC067434.1 BC067441.1 BC067442.1 BC067443.1 BC067444.1 

    2 DOTS entries:

    DT.101982500  DT.101982701 

    Selected AceView cDNA sequences (see all 36):

    BC067442 R97419 CK032853 CF271952 CF271957 CK032852 CK130226 BC067441 
    CF271951 BC067444 CF271955 BC067434 CF271954 NM_004391 CK032850 BC067443 
    CF271950 CK032851 BX496225 CK130227 CF271944 CF271956 BX119155 AF090318 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    CYP8B1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTATTTTATT
    CYP8B1 Expression
    About this image

    CYP8B1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CYP8B1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.447793

    UniProtKB/Swiss-Prot: CP8B1_HUMAN, Q9UNU6
    Tissue specificity: Liver

        Pathway & Disease-focused RT2 Profiler PCR Array including CYP8B1: 
              Drug Metabolism: Phase I Enzymes in human mouse rat

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CYP8B1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for CYP8B1 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cyp8b11 , 5 cytochrome P450, family 8, subfamily b, polypeptide more1, 5 79(n)1
    75(a)1
      9 (72.73 cM)5
    131241  NM_010012.31  NP_034142.31 
     1219143565 
    chicken
    (Gallus gallus)
    Aves CYP8B11 cytochrome P450, family 8, subfamily B, polypeptide more 59.39(n)
    54.55(a)
      425055  NM_001005571.1  NP_001005571.1 
    lizard
    (Anolis carolinensis)
    Reptilia CYP8B16
    cytochrome P450, family 8, subfamily B, polypeptid...
    48(a)
    1 ↔ 1
    6(2923128-2925207)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC644562 hypothetical protein MGC64456 70.55(n)    BC054247.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufk74d092 Transcribed sequence with weak similarity to protein more 73.22(n)    CK024698.1 


    ENSEMBL Gene Tree for CYP8B1 (if available)
    TreeFam Gene Tree for CYP8B1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

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    Paralogs for CYP8B1 gene
    CYP39A12  PTGIS2  CYP7A12  CYP7B12  
    4 SIMAP similar genes for CYP8B1 using alignment to 2 protein entries:     CP8B1_HUMAN (see all proteins):
    CYP7A1    PTGIS    PGIS    CYP7B1

    CYP8B1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for CYP8B1 (see all 172)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1822414091,2
    --42844180(+) GAGCTC/TTATCA 1 -- ds50010--------
    rs1856324951,2
    C--42844211(+) ATTTGC/TGGGCA 1 -- ds50010--------
    rs1145232991,2
    C,F--42844376(+) AAAGTA/GGCAGA 1 -- ds50011Minor allele frequency- G:0.06WA 118
    rs1134986321,2
    C--42844567(+) AAGCAC/TGCTGG 1 -- ds50012Minor allele frequency- T:0.04NA 122
    rs108659251,2
    C,F,A,H--42844587(+) TTGTCT/CTCATT 1 -- ds500114Minor allele frequency- C:0.46NA NS EA WA CSA 918
    rs124940551,2
    C,F,H--42844822(+) GGTGCC/TGCAGG 1 -- ut3124Minor allele frequency- T:0.32NS EA NA WA CSA 2354
    rs1893432421,2
    --42844823(+) GTGCTA/GCAGGA 1 -- ut310--------
    rs738293001,2
    C,F--42844832(+) GAGCTG/ACACAG 1 -- ut311Minor allele frequency- A:0.50WA 2
    rs1472562841,2
    --42844872(+) GATGCA/GTGAAA 1 -- ut310--------
    rs1808730891,2
    --42844891(+) GGCTTC/TCAGGA 1 -- ut310--------

    HapMap Linkage Disequilibrium report for CYP8B1 (42897497 - 42917633 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for CYP8B1: --
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CYP8B1
    DNA2.0 Custom Variant and Variant Library Synthesis for CYP8B1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 602172    OMIM disorders: --

    6 diseases for CYP8B1:    
    About MalaCards
    cerebrotendinous xanthomatosis    xanthomatosis    cholestasis    tuberculosis
    thyroiditis    hepatitis


    CYP8B1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): CYP8B1
    Human Genome Epidemiology (HuGE) Navigator: CYP8B1 (3 documents)

    Export disorders for CYP8B1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for CYP8B1 gene, integrated from 10 sources (see all 25):
    (articles sorted by number of sources associating them with CYP8B1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Structure and chromosomal assignment of the sterol 12alpha- hydroxylase gene (CYP8B1) in human and mouse: eukaryotic cytochrome P- 450 gene devoid of introns. (PubMed id 10051404)1, 2, 3, 9 Gaafvels M.... Eggertsen G. (Genomics 1999)
    2. Genetic variants in TPMT and COMT are associated with hearing loss in children receiving cisplatin chemotherapy. (PubMed id 19898482)1, 4 Ross C.J....Hayden M.R. (Nat. Genet. 2009)
    3. Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations. (PubMed id 18660489)1, 4 Lu Y....Boer J.M. (J. Lipid Res. 2008)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    5. Transcriptional regulation of the human sterol 12alpha-hydroxylase gene (CYP8B1): roles of heaptocyte nuclear factor 4alpha in mediating bile acid repression. (PubMed id 11535594)1, 9 Zhang M. and Chiang J.Y. (J. Biol. Chem. 2001)
    6. Human and murine hepatic sterol-12-alpha-hydroxylase and other xenobiotic metabolism mRNA are upregulated by soy isoflavones. (PubMed id 17585019)1, 9 Li Y....Shay N.F. (J. Nutr. 2007)
    7. Suppression of bile acid synthesis by thyroid hormone in primary human hepatocytes. (PubMed id 16937432)1, 9 Ellis E.C. (World J. Gastroenterol. 2006)
    8. Single nucleotide polymorphism rs3732860 in the 3'-untranslated region of CYP8B1 gene is associated with gallstone disease in Han Chinese. (PubMed id 23216301)1 Qin J....Zhang S.D. (J. Gastroenterol. Hepatol. 2013)
    9. Retinoic acid-related orphan receptor I+ regulates diurnal rhythm and fasting induction of sterol 12I+-hydroxylase in bile acid synthesis. (PubMed id 24226095)1 Pathak P....Chiang J.Y. (J. Biol. Chem. 2013)
    10. [Association of single nucleotide polymorphism in human CYP8B1 gene with gallstone disease]. (PubMed id 22093981)1 Qin J....Zhang S.D. (Zhonghua Yi Xue Za Zhi 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
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      Query String
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    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 1582 HGNC: 2653 AceView: CYP8B1 Ensembl:ENSG00000180432 euGenes: HUgn1582
    ECgene: CYP8B1 Kegg: 1582 H-InvDB: CYP8B1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for CYP8B1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for CYP8B1 gene:
    Search GeneIP for patents involving CYP8B1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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