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CYP8B1 Gene

protein-coding   GIFtS: 49

GC03M042888
cytochrome P450, family 8, subfamily B, polypeptide 1
(Previous names: cytochrome P450, subfamily VIIIB (sterol 12-alpha-hydroxylase), polypeptide 1 )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Products    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section

Aliases & Descriptions
cytochrome P450, family 8, subfamily B, polypeptide 11 2     7-alpha-hydroxy-4-cholesten-3-one 12-alpha-hydroxylase2 3
CYP121 2 3 5     7-alpha-hydroxycholest-4-en-3-one 12-alpha-hydroxylase2
cytochrome P450, subfamily VIIIB (sterol 12-alpha-hydroxylase), polypeptide 11 2     CP8B2
Sterol 12-alpha-hydroxylase2 3     FLJ178262
Cytochrome P450 8B12 3     7 alpha-hydroxy-4-cholesten-3-one 12-alpha-hydroxylase2
CYPVIIIB12 3     EC 1.14.13.953

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

Export aliases for CYP8B1 gene to outside databases

Previous GC identifers: GC03M042218 GC03M042094 GC03M042732 GC03M042874


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for CYP8B1:
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)

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


(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 60), Regulatory elements and Epigenetics data according to Qiagen and/or SABiosciences)
About This Section

Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CYP8B1 gene promoter:
         AP-1   c-Fos   c-Jun   CUTL1   TGIF   AREB6   p53   GR-alpha   C/EBPalpha   FOXC1   
         Other transcription factors

   Search SABiosciences Chromatin IP Primers for CYP8B1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays for 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 gene densities for 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
RefSeq DNA sequence:
NC_000003.11  NT_022517.18  

(According to 1UniProtKB, neXtProt, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Millipore, Sigma-Aldrich, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, and/or ProSpec,
Biochemical Assays by Millipore, Sigma-Aldrich, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Dec 2010 and Entrez Gene, Antibodies by Millipore, Sigma-Aldrich, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, and/or Epitomics)
About This Section

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)
Subcellular location: Endoplasmic reticulum membrane; Single-pass membrane protein. Microsome membrane; Single-pass
membrane protein
Secondary accessions: B2RCY3 O75958 Q6NWT2 Q6NWT3

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

Post-translational modifications:

  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins: NP_004382.2  

    ENSEMBL proteins: 
    ENSP00000318867 ENSP00000404499 


    Human Recombinant Proteins 
    Browse Purified and Recombinant Proteins at Millipore
    Browse Human Recombinant Proteins at Sigma-Aldrich
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    Browse OriGene Protein Over-expression Lysates
    GenScript Custom Purified and Recombinant Proteins Services for CYP8B1 
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins

    5 Gene Ontology (GO) cellular component terms (GO ID links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005783 endoplasmic reticulum IEA--
    GO:0005789 endoplasmic reticulum membrane EXP10051404
    GO:0005792 microsome IEA--
    GO:0016020 membrane IEA--
    GO:0016021 integral to membrane IEA--
    About this table

    CYP8B1 for ontologies           About GeneDecksing



    Antibodies for CYP8B1: 
    Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse Antibodies at Sigma-Aldrich
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    GenScript Custom Superior Antibodies Services for CYP8B1 
    Browse antibodies at Epitomics

    Assays for CYP8B1: 
    Browse Kits and Assays available from Millipore
    Browse ELISAs at Sigma-Aldrich
    OriGene Custom Immunoassay Development 
    Browse OriGene Fluorogenic Cell Assay Kits 
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for CYP8B1 
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for CYP8B1 


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    CYP8B1 for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR001128 Cyt_P450
     IPR002403 Cyt_P450_E_grp-IV

    Graphical View of Domain Structure for InterPro Entry Q9UNU6

    ProtoNet protein and cluster: Q9UNU6

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

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


    (According to UniProtKB, IUBMB,and/or Genatlas, Animal models from MGI Dec 24 2010,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Millipore, siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich, microRNA from Sigma-Aldrich, Qiagen, SABiosciences, Clones from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, Cell Lines from GenScript, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene.)
    About This Section

    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
    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
    Enzyme Number (IUBMB): EC 1.14.13.95 

    Inhib.
    RNA:
        
    Browse for Gene Knock-down Tools from Millipore
    Browse Nano Scale siRNA at Sigma-Aldrich
    Sigma-Aldrich siRNA Panels and esiRNA and siRNA for CYP8B1
    Sigma-Aldrich shRNA for CYP8B1
    OriGene 29mer shRNA kits in GFP-retroviral vector: CYP8B1
    OriGene shRNA RFP: CYP8B1
    OriGene basic RS shRNA: CYP8B1
    OriGene siRNA: CYP8B1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of CYP8B1 
    miRNA:Browse microRNA Mimics at Sigma-Aldrich
    Browse microRNA target validation systems at Sigma-Aldrich 
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of CYP8B1 
    Search SABiosciences for Assays for microRNAs that regulate CYP8B1

    Gene
    Editing:
    Browse CompoZr Knockout ZFN at Sigma-Aldrich 

    Clones:Browse Clones for the Expression of Recombinant Proteins Available from Millipore
    Browse iPSC Reprogramming Factors at Sigma-Aldrich
    OriGene GFP tagged cDNA clones in CMV expression vector: CYP8B1
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector: CYP8B1
    OriGene untagged cDNA clones in CMV expression vector: CYP8B1
    OriGene 3'-UTR clone: CYP8B1 
    Browse MicroRNA Expression Plasmids 
    GenScript Custom cDNA clone Services for CYP8B1 
    Browse Sino Biological Human cDNA Clones

    Cell
    Lines:
      
    GenScript Custom overexpressing Cell Line Services for CYP8B1 

    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

    5/8 Gene Ontology (GO) molecular function terms (GO ID links to tree view) (see all 8):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004497 monooxygenase activity IEA--
    GO:0005506 iron ion binding ----
    GO:0008397 sterol 12-alpha-hydroxylase activity IEA--
    GO:0009055 electron carrier activity IEA--
    GO:0019825 oxygen binding TAS10051404
    About this table

    CYP8B1 for ontologies           About GeneDecksing

    Animal Models: 3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Cyp8b1):

    digestive/alimentaryhomeostasis/metabolismliver/biliary system

    CYP8B1 for phenotypes           About GeneDecksing


    (Pathways according to Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB, Sets of similar genes according to GeneDecks, PCR Arrays from SABiosciences, Proteins Network according to SABiosciences, Sigma-Aldrich, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene).
    About This Section


    CYP8B1 for pathways           About GeneDecksing

    5/6 Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Pathways for  CYP8B1 (see all 6)
        Ascorbate and Aldarate Metabolism
    FXR/RXR Activation
    Sphingolipid Metabolism
    Stilbene, Coumarine and Lignin Biosynthesis
    Biosynthesis of Steroids

    3 Kegg Pathways  (Kegg details for CYP8B1):
        hsa00120 Primary bile acid biosynthesis
    hsa01100 Metabolic pathways
    hsa03320 PPAR signaling pathway

        SABiosciences Pathway-Focused PCR Array including CYP8B1: PAHS-068A 

        Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Molecular Interaction Network for CYP8B1
        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CYP8B1

    2 Interacting proteins for CYP8B1 (ENSP000003188673) via UniProtKB, MINT, and/or STRING
    InteractantInteraction Details
    GeneCardExternal ID(s)
    AKR1D1ENSP000002423753STRING: ENSP00000242375
    HSD3B7ENSP000002976793STRING: ENSP00000297679
    About this table

    4 Gene Ontology (GO) biological process terms (GO ID links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006699 bile acid biosynthetic process TAS--
    GO:0006805 xenobiotic metabolic process TAS--
    GO:0008206 bile acid metabolic process TAS--
    GO:0055114 oxidation-reduction process IEA--
    About this table

    CYP8B1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    CYP8B1 for compounds           About GeneDecksing

    Browse Small Molecules at Sigma-Aldrich
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for CYP8B1
    4 Novoseek chemical compound relationships for CYP8B1 gene
    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)
    About this table



    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 228 Homo sapiens; Dec 8 2010) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Millipore,
    siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene, microRNA from Sigma-Aldrich, Qiagen, SABiosciences,
    Tagged/untagged cDNA clones from OriGene, Sigma-Aldrich, GenScript, Primers from OriGene and/or SABiosciences)
    About This Section

    Inhib.
    RNA:
         
    Browse for Gene Knock-down Tools from Millipore
    Browse Nano Scale siRNA at Sigma-Aldrich
    Sigma-Aldrich siRNA Panels and esiRNA and siRNA for CYP8B1
    Sigma-Aldrich shRNA for CYP8B1
    OriGene 29mer shRNA kits in GFP-retroviral vector: CYP8B1
    OriGene shRNA RFP: CYP8B1
    OriGene basic RS shRNA: CYP8B1
    OriGene siRNA: CYP8B1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of CYP8B1 
    miRNA: Browse microRNA Mimics at Sigma-Aldrich
    Browse microRNA target validation systems at Sigma-Aldrich 
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of CYP8B1 
    Search SABiosciences for Assays for microRNAs that regulate CYP8B1
    Clones: Browse FLAG tag genes at Sigma-Aldrich
    OriGene GFP tagged cDNA clones in CMV expression vector: CYP8B1
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector: CYP8B1
    OriGene untagged cDNA clones in CMV expression vector: CYP8B1
    OriGene 3'-UTR Clone: CYP8B1 
    Browse OriGene MicroRNA Expression Plasmids 
    GenScript Custom cDNA clone Services for CYP8B1 
    Primers: OriGene genome-wide validated SYBR primer pairs: CYP8B1
    Browse OriGene validated miRNA SYBR primer pairs 
    SABiosciences RT2 qPCR Primer Assay for CYP8B1: PPH01265A

    REFSEQ mRNAs for CYP8B1 gene: 

    NM_004391.2  

    Additional cDNA sequence: 

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

    2 DOTS entries:

    DT.101982500  DT.101982701 

    24/36 AceView cDNA sequences (see all 36):

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

    highest scoring ESTs for CYP8B1:

    AF090318 BC067434 BC067441 BC067442 BC067443 BC067444 BF996526 BX496225 CF271943 CF271951 

    Unigene Cluster for CYP8B1:

    Cytochrome P450, family 8, subfamily B, polypeptide 1
    Hs.447793  [show with all ESTs]
    Unigene Representative Sequence: NM_004391


    GeneLoc Exon Structure

    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000316161(uc003cmh.2) ENST00000437102(uc010hif.2)

    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 228 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Primers from OriGene and/or SABiosciences )
    About This Section

    CYP8B1 expression in normal and diseased human tissues

    1  / 2  / 3

    3 probe-sets matching CYP8B1 gene

    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    45943_at2, 3 U95-B 1 0.62 1.00 1.00 1.00 AI052592 0.60 1.00 0.82 1
    232494_at2, 3 U133-B 1 0.46 1.00 -- -- AA928708 0.60 1.00 0.82 1
    232494_at2 U133Plus2 1 0.46 1.00 -- -- -- -- -- -- --
    About this table

    CYP8B1 for expression           About GeneDecksing

    Data from Genenote  (Publications) and GNF BioGPS
        About these images
    CYP8B1 gene expression
    CYP8B1 gene electronic northern expression
    CYP8B1 gene sage expression
    About these images

    CGAP SAGE TAG: GTATTTTATT

    SOURCE GeneReport for Unigene cluster: Hs.447793

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

    Primers: OriGene genome-wide validated SYBR primer pairs: CYP8B1
    Browse OriGene validated miRNA SYBR primer pairs 
    SABiosciences RT2 qPCR Primer Assay for CYP8B1: PPH01265A
        SABiosciences Expression via Pathway-Focused PCR Array including CYP8B1: PAHS-068A 


    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Dec 24 2010, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section

    Orthologs for CYP8B1 gene from 5/8 species (see all 8)
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    LOC4856191   -- similar to Cytochrome P450 8B1 (CYPVIIIB1) (Sterol more 83.8(n)
    81.2(a)
    485619  XM_542738.1  XP_542738.1 
    chimpanzee
    (Pan troglodytes)
    LOC7369621   -- similar to sterol 12-alpha-hydroxylase CYP8B1 99.6(n)
    99(a)
    736962  XM_001140682.1  XP_001140682.1 
    rat
    (Rattus norvegicus)
    Cyp8b11   -- cytochrome P450, family 8, subfamily b, polypeptide more 79.63(n)
    74.75(a)
    81924  NM_031241.1  NP_112520.1 
    mouse
    (Mus musculus)
    Cyp8b11 , 5 9 (72.73 cM)5
    cytochrome P450, family 8, subfamily b, polypeptide more1, 5 79.13(n)1
    75.2(a)1
    131241  NM_010012.21  NP_034142.21 
     AF0903175  AF0903195  (see all 8)
    chicken
    (Gallus gallus)
    CYP8B1   -- cytochrome P450, family 8, subfamily B 59.39(n)
    54.55(a)
    425055  NM_001005571.1  NP_001005571.1 
    About this table        Species with no ortholog for CYP8B1

    ENSEMBL Gene Tree for CYP8B1 (if available)

    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section
    Paralogs for CYP8B1 gene
    PTGIS2  CYP39A12  CYP7A12  CYP7B12  

    CYP8B1 for paralogs           About GeneDecksing



    (SNPs according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Resequencing Primers from Qiagen)
    About This Section

    10/60 NCBI SNPs in CYP8B1 are shown (see all 60)
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidChr 3 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ----------
    rs7349691,2
    C,F,A,H,42917906(+) gctgtT/Cgtgag 1 -- ng519Minor allele frequency- C:0.49NS EA NA WA 600
    rs7353201,2
    C,F,O,A,42915878(-) GACCCG/ACAGCG 2 /P syn1 ref1 ese329Minor allele frequency- A:0.12NA EA MN NS WA 3766
    rs7418171,2
    C,F,42916511(-) CAGGGG/TGTACC 2 G ref1 syn1 ese323Minor allele frequency- T:0.03MN NS EA NA WA 3478
    rs7601931,2
    C,F,A,H,42918297(-) CCCAAG/AATGGA 1 -- ng5124Minor allele frequency- A:0.34NA EA MN NS 2038
    rs7601941,2
    C,F,A,H,42918238(-) GCATCA/GATGCC 1 -- ng5112Minor allele frequency- G:0.42MN NS EA NA WA 822
    rs28882711,2
    C,F,A,H,42914876(+) CctgtT/Gctatc 1 -- ut313Minor allele frequency- G:0.49NA EA WA 210
    rs37328601,2
    C,F,A,H,42914012(+) GAGACC/TAACCG 1 -- ut3126Minor allele frequency- T:0.26EA NA NS WA 3130
    rs37328611,2
    C,F,42914325(+) GATGGG/AGTGAA 1 -- ut315Minor allele frequency- A:0.13EA NA 1720
    rs45150271,2
    --42915227(+) aggcaG/Taggtt 1 -- ut310--------
    rs67826011,2
    C,F,42915385(+) TTCCAT/CAGGAT 1 -- ut319Minor allele frequency- C:0.14NS EA NA WA 506
    About this table

    HapMap Linkage Disequilibrium images for CYP8B1 (up to first 250kb)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for CYP8B1: --

    QIAGEN SeqTarget long-range PCR primers for resequencing CYP8B1 

    (in which this Gene is Involved, According to OMIM, UniProtKB, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, LSDB, HGMD, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    CYP8B1 for disorders           About GeneDecksing

    OMIM: 602172

    Human Genome Epidemiology (HuGE) Navigator: CYP8B1 (2 documents)

    Export disorders and mutations for CYP8B1 gene to outside databases

    (Possibly Related Articles in Doctor's Guide)
    About This Section
      --

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6UniProtKB/TrEMBL, and/or 7Novoseek)
    About This Section

    10/21 PubMed articles for CYP8B1 gene, integrated from 7 sources (see all 21):
    (articles sorted by number of sources associating them with CYP8B1)
    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, 7 Gaafvels M.... Eggertsen G. (1999)
    2. 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. (2004)
    3. 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, 7 Zhang M. and Chiang J.Y. (2001)
    4. Human and murine hepatic sterol-12-alpha-hydroxylase and other xenobiotic metabolism mRNA are upregulated by soy isoflavones. (PubMed id 17585019)1, 7 Li Y....Shay N.F. (2007)
    5. Suppression of bile acid synthesis by thyroid hormone in primary human hepatocytes. (PubMed id 16937432)1, 7 Ellis E.C. (2006)
    6. Genetic variants in TPMT and COMT are associated with hearing loss in children receiving cisplatin chemotherapy. (PubMed id 19898482)1 Ross C.J....Hayden M.R. (2009)
    7. Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations. (PubMed id 18660489)1 Lu Y....Boer J.M. (2008)
    8. The DNA sequence, annotation and analysis of human chromosome 3. (PubMed id 16641997)2 Muzny D.M....Gibbs R.A. (2006)
    9. Human sterol 12a-hydroxylase (CYP8B1) is mainly expressed in hepatocytes in a homogenous pattern. (PubMed id 15891895)1 Wang J....Gafvels M. (2005)
    10. Mechanisms of cholesterol and sterol regulatory element binding protein regulation of the sterol 12alpha-hydroxylase gene (CYP8B1). (PubMed id 15249218)1 Yang Y....Chiang J.Y. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 1582 HGNC: 2653 AceView: CYP8B1 Ensembl:ENSG00000180432 euGenes: HUgn1582
    ECgene: CYP8B1 Kegg: 1582 H-InvDB: CYP8B1

    (According to HUGE)
    About This Section
      --

    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from XenneX, Inc.)
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    Patent Information for CYP8B1 gene:
    Search GeneIP for patents involving CYP8B1

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