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BCO2 Gene

protein-coding   GIFtS: 50
GCID: GC11P112046

Beta-Carotene Oxygenase 2

(Previous name: beta-carotene dioxygenase 2)
(Previous symbol: BCDO2)
  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
Beta-Carotene Oxygenase 21 2     Beta,Beta-Carotene 9',10'-Dioxygenase Variant 12
BCDO21 2 3 5     Beta,Beta-Carotene 9',10'-Oxygenase2
Beta-Carotene Dioxygenase 21 2 3     Beta-Carotene 9',10' Oxygenase2
10' Oxygenase1     B-diox-II3
Beta-Carotene 9'1     EC 1.13.11.713
B-DIOX-II2     EC 1.14.998
b,b-carotene-9',10'-dioxygenase2     EC 1.14.99.368

External Ids:    HGNC: 185031   Entrez Gene: 838752   Ensembl: ENSG000001975807   OMIM: 6117405   UniProtKB: Q9BYV73   

Export aliases for BCO2 gene to outside databases

Previous GC identifers: GC11P111552 GC11P107970


(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 BCO2 Gene:
This gene encodes an enzyme which oxidizes carotenoids such as beta-carotene during the biosynthesis of vitamin A.
Multiple transcript variants encoding different isoforms have been found for this gene. (provided by RefSeq, Jan
2012)

GeneCards Summary for BCO2 Gene:
BCO2 (beta-carotene oxygenase 2) is a protein-coding gene. Diseases associated with BCO2 include smallpox, and leber congenital amaurosis. GO annotations related to this gene include oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen. An important paralog of this gene is ENSG00000272790.

UniProtKB/Swiss-Prot: BCDO2_HUMAN, Q9BYV7
Function: Asymmetrically cleaves beta-carotene at the 9',10' double bond resulting in the formation of
beta-apo-10'-carotenal and beta-ionone. Besides beta-carotene, lycopene is also oxidatively cleaved. The
apocarotenals formed by this enzyme may be the precursors for the biosynthesis of retinoic acid or exert unknown
physiological effects




(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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Regulatory elements:
   Regulatory transcription factor binding sites in the BCO2 gene promoter:
         TBP   AP-1   NF-kappaB1   NF-kappaB   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidBCO2 promoter sequence
   Search Chromatin IP Primers for BCO2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat BCO2


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

Entrez Gene cytogenetic band: 11q23.1   Ensembl cytogenetic band:  11q23.1   HGNC cytogenetic band: 11q23.1

BCO2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BCO2 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P112046:  view genomic region     (about GC identifiers)

Start:
112,046,190 bp from pter      End:
112,095,422 bp from pter
Size:
49,233 bases      Orientation:
plus 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, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: BCDO2_HUMAN, Q9BYV7 (See protein sequence)
Recommended Name: Beta,beta-carotene 9',10'-oxygenase  
Size: 579 amino acids; 65674 Da
Cofactor: Binds 1 Fe(2+) ion per subunit (By similarity)
Sequence caution: Sequence=CAC27994.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: B0YIX5 B4DNC3 E9PBI8 E9PJJ1 Q8IUS0 Q96JC8 Q96JY5
Alternative splicing: 5 isoforms:  Q9BYV7-1   Q9BYV7-2   Q9BYV7-4   Q9BYV7-5   Q9BYV7-6   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for BCO2: NX_Q9BYV7

Explore proteomics data for BCO2 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for BCO2 (Q9BYV7) (see all 15)
     YNHWFDG  IDLCCQD  TSKIRGK  PSYYHSFG 


    See BCO2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (5 alternative transcripts): 
    NP_001032367.2  NP_001243326.1  NP_001243327.1  NP_001243329.1  NP_114144.4  

    ENSEMBL proteins: 
     ENSP00000350314   ENSP00000434488   ENSP00000354338   ENSP00000435869   ENSP00000436956  
     ENSP00000414843   ENSP00000436615   ENSP00000431802   ENSP00000437053   ENSP00000432045  
     ENSP00000431882   ENSP00000376752  
    Reactome Protein details: Q9BYV7

    BCO2 Human Recombinant Protein Products:

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    Novus Biologicals BCO2 Lysate
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    Browse Proteins at Cloud-Clone Corp.

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    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR004294 Carotenoid_Oase

    Graphical View of Domain Structure for InterPro Entry Q9BYV7

    ProtoNet protein and cluster: Q9BYV7

    UniProtKB/Swiss-Prot: BCDO2_HUMAN, Q9BYV7
    Similarity: Belongs to the carotenoid oxygenase family


    BCO2 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: BCDO2_HUMAN, Q9BYV7
    Function: Asymmetrically cleaves beta-carotene at the 9',10' double bond resulting in the formation of
    beta-apo-10'-carotenal and beta-ionone. Besides beta-carotene, lycopene is also oxidatively cleaved. The
    apocarotenals formed by this enzyme may be the precursors for the biosynthesis of retinoic acid or exert unknown
    physiological effects
    Catalytic activity: All-trans-beta-carotene + O(2) = all-trans-10'-apo-beta-carotenal + beta-ionone

         Enzyme Numbers (IUBMB): EC 1.14.992 EC 1.13.11.711 EC 1.14.99.362

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016702oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen IDA11278918
    GO:0046872metal ion binding IEA--
         
    BCO2 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for BCO2:
     Decreased viability of wild-ty 

         8 MGI mutant phenotypes (inferred from 1 allele(MGI details for Bco2):
     adipose tissue  cellular  endocrine/exocrine gland  hematopoietic system  homeostasis/metabolism 
     immune system  liver/biliary system  reproductive system 

    BCO2 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for BCO2
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for BCO2
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    miRNA
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    5 qRT-PCR Assays for microRNAs that regulate BCO2:
    hsa-miR-498 hsa-miR-630 hsa-miR-578 hsa-miR-3916 hsa-miR-3125
    SwitchGear 3'UTR luciferase reporter plasmidBCO2 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Predesigned siRNA for gene silencing in human, mouse, rat BCO2

    Gene Editing
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    Clone
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    OriGene clones in human, mouse for BCO2 (see all 10)
    OriGene ORF clones in mouse, rat for BCO2
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    GenScript: all cDNA clones in your preferred vector (see all 2): BCO2 (NM_031938)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for BCO2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BCO2

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for BCO2
    Browse ESI BIO Cell Lines and PureStem Progenitors for BCO2 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BCO2


    (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
    BCDO2_HUMAN, Q9BYV7: Mitochondrion
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    cytoskeleton2
    cytosol2
    nucleus2

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular IC11278918
    GO:0005739mitochondrion TAS--

    BCO2 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 BCO2 About    
    See pathways by source

    SuperPathContained pathways About
    1Vitamin A and carotenoid metabolism
    Vitamin A and carotenoid metabolism
    2Retinol metabolism
    Retinol metabolism

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for BCO2
        Retinol metabolism

    1 BioSystems Pathway for BCO2
        Vitamin A and carotenoid metabolism

    1 Reactome Pathway for BCO2
        Retinoid metabolism and transport



    BCO2 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for BCO2
    Interactions:

        Search GeneGlobe Interaction Network for BCO2

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016116carotenoid metabolic process ISS--
    GO:0016119carotene metabolic process IDA11278918
    GO:0016121carotene catabolic process IDA--
    GO:0042573retinoic acid metabolic process NAS11278918
    GO:0042574retinal metabolic process NAS11278918

    BCO2 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 BCO2 (BCDO2)

    2 HMDB Compounds for BCO2    About this table
    CompoundSynonyms CAS #PubMed Ids
    IronArmco iron (see all 19)7439-89-6--
    Lycopene(6E,8E,10E,12E,14E,16E,18E,20E,22E,24E,26E)-2,6,10,14,19,23,27,31-Octamethyl-2,6,8,10,12,14,16,18,20,22,24,26,30-dotriacontatridecaene (see all 7)502-65-8--



    (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,
    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 BCO2 gene (5 alternative transcripts): 
    NM_001037290.2  NM_001256397.1  NM_001256398.1  NM_001256400.1  NM_031938.5  

    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 19):
    ENST00000357685(uc001pnf.3 uc001png.3 uc001pnh.3 uc010rwt.2 uc009yyn.3)
    ENST00000460924 ENST00000461480 ENST00000534550 ENST00000361053 ENST00000531003
    ENST00000494860(uc001pne.1) ENST00000527939 ENST00000534122 ENST00000438022
    ENST00000526088 ENST00000532593 ENST00000531169(uc001pni.3) ENST00000530677
    ENST00000527198 ENST00000525175 ENST00000532716 ENST00000532673
    miRNA
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    5 qRT-PCR Assays for microRNAs that regulate BCO2:
    hsa-miR-498 hsa-miR-630 hsa-miR-578 hsa-miR-3916 hsa-miR-3125
    SwitchGear 3'UTR luciferase reporter plasmidBCO2 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat BCO2
    Clone
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    OriGene ORF clones in mouse, rat for BCO2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): BCO2 (NM_031938)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for BCO2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BCO2
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for BCO2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat BCO2
      QuantiTect SYBR Green Assays in human, mouse, rat BCO2
      QuantiFast Probe-based Assays in human, mouse, rat BCO2

    Selected AceView cDNA sequences (see all 1371):

    BU732625 BQ083930 CR617068 BM720390 CD245358 BE252963 AL561498 BG741173 
    CD708042 AX747181 BM312481 AA303046 AJ709307 CB161846 BU159491 AA306311 
    BM272428 BG024667 AA296985 BF698281 BQ229571 CA947141 NM_031275 CK430277 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for BCO2 (see all 11)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11a · 11b · 11c · 11d ^ 12 ^ 13
    SP1:                    -     -           -           -                                               -                 -               
    SP2:                                      -           -                                               -                 -               
    SP3:                                      -           -                                               -           -     -               
    SP4:                    -     -           -           -     -     -                                   -                 -               
    SP5:                    -     -     -     -                                                           -                                 


    ECgene alternative splicing isoforms for BCO2

    (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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    BCO2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TACCCCAGAA
    BCO2 Expression
    About this image


    BCO2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     NULL (Uncategorized)
             Vascular endothelial growth factor-induced embryoid bodies
    BCO2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    BCO2 Protein Expression

    UniProtKB/Swiss-Prot: BCDO2_HUMAN, Q9BYV7
    Tissue specificity: Highly expressed in retinal pigment epithelium. Also expressed in stomach, small intestine,
    liver, testis, kidney, adrenal gland, pancreas, heart, skeletal muscle and prostate (at protein level)

        Custom PCR Arrays for BCO2
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BCO2

    (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 eukaryotes.

    Orthologs for BCO2 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Bco21 , 5 beta-carotene oxygenase 21, 5 83.33(n)1
    81.77(a)1
      9 (27.74 cM)5
    1707521  NM_133217.31  NP_573480.11 
     505330875 
    chicken
    (Gallus gallus)
    Aves BCO21 beta-carotene oxygenase 2 68.31(n)
    63.97(a)
      419792  XM_417929.4  XP_417929.2 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    40(a)
    1 → many
    GL343973.1(16623-71798)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia bco21 beta-carotene oxygenase 2 64.15(n)
    60.57(a)
      448408  NM_001006738.1  NP_001006739.1 
    zebrafish
    (Danio rerio)
    Actinopterygii bcdo22 beta-carotene 15, 15-dioxygenase 2 73.06(n)   84041  AJ290391.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta ninaB1 neither inactivation nor afterpotential B 45.07(n)
    35.22(a)
      41678  NM_142050.3  NP_650307.2 
    worm
    (Caenorhabditis elegans)
    Secernentea bcmo-26
    bcmo-16
    Protein BCMO-1 (bcmo-1) mRNA, complete cds
    32(a)
    31(a)
    many ↔ many
    many ↔ many
    II(3908489-3910837) WBGene00018755
    II(12830707-12832720) WBGene00012914
    rice
    (Oryza sativa)
    Liliopsida Os01g05665001 Os01g0566500 43.85(n)
    35.11(a)
      4327933  NM_001049898.1  NP_001043363.1 


    ENSEMBL Gene Tree for BCO2 (if available)
    TreeFam Gene Tree for BCO2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for BCO2 gene
    ENSG000002727902  RPE652  BCMO12  
    3 SIMAP similar genes for BCO2 using alignment to 5 protein entries:     BCDO2_HUMAN (see all proteins):
    BCDO2    BCMO1    RPE65

    BCO2 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 BCO2 (see all 914)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs112141091,2
    C--111907773(+) TGGTGC/TGATCT 2 -- us2k13Minor allele frequency- T:0.07NS NA 42
    rs1876238861,2
    --111907774(+) GGTGCA/GATCTT 2 -- us2k10--------
    rs1924933831,2
    --111907872(+) CACCCA/GGCTAA 2 -- us2k10--------
    rs455704411,2
    F--111907886(+) TTGTAT/GTTTTA 2 -- us2k11Minor allele frequency- G:0.26NS 38
    rs124204761,2
    C,F,H--111907945(+) acctcA/Cggtga 2 -- us2k1 tfbs34Minor allele frequency- C:0.20NS NA 44
    rs1407513291,2
    C--111908061(+) TAATAC/TGACAT 2 -- us2k10--------
    rs801043151,2
    C,F--111908084(+) TCGACC/TTACCA 2 -- us2k11Minor allele frequency- T:0.01NA 120
    rs454916971,2
    F--111908131(+) TAATAT/AGAAAA 2 -- us2k11Minor allele frequency- A:0.08NS 38
    rs133288431,2
    C,F--111908234(+) TGCAGG/CTTCAG 2 -- us2k111Minor allele frequency- C:0.47NS NA WA CSA EA 410
    rs25539341,2
    C,F,H--111908240(-) AATTTT/ACTGAA 2 -- us2k114Minor allele frequency- A:0.04NS EA NA WA CSA 543

    HapMap Linkage Disequilibrium report for BCO2 (112046190 - 112095422 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for BCO2:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2745077CNV Deletion23290073
    esv267831CNV Insertion20981092
    nsv493CNV Insertion18451855
    nsv525636CNV Loss19592680
    nsv519192CNV Gain19592680

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 611740    OMIM disorders: --

    7 diseases for BCO2:    
    About MalaCards
    smallpox    leber congenital amaurosis    intrahepatic cholangiocarcinoma    cholangiocarcinoma
    retinitis    prostatitis    endotheliitis


    BCO2 for disorders           About GeneDecksing

    Genetic Association Database (GAD): BCO2
    Human Genome Epidemiology (HuGE) Navigator: BCO2 (4 documents)

    Export disorders for BCO2 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 BCO2 gene, integrated from 10 sources (see all 21):
    (articles sorted by number of sources associating them with BCO2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cell type-specific expression of beta-carotene 9',10'-monooxygenase in human tissues. (PubMed id 15983114)1, 2, 3 Lindqvist A.... Andersson S. (J. Histochem. Cytochem. 2005)
    2. Identification and characterization of a mammalian enzyme catalyzing the asymmetric oxidative cleavage of provitamin A. (PubMed id 11278918)1, 2, 3 Kiefer C.... von Lintig J. (J. Biol. Chem. 2001)
    3. A mitochondrial enzyme degrades carotenoids and protects against oxidative stress. (PubMed id 21106934)1, 2 Amengual J.... von Lintig J. (FASEB J. 2011)
    4. Genome-wide association study identifies variants at the IL18-BCO2 locus associated with interleukin-18 levels. (PubMed id 20150558)1, 4 He M....Qi L. (Arterioscler. Thromb. Vasc. Biol. 2010)
    5. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    6. A genome-wide association study identifies protein quantitative trait loci (pQTLs). (PubMed id 18464913)1, 4 Melzer D....Ferrucci L. (PLoS Genet. 2008)
    7. Towards a better understanding of carotenoid metabolism in animals. (PubMed id 15949678)1, 3 von Lintig J....Vogt K. (Biochim. Biophys. Acta 2005)
    8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    9. Two carotenoid oxygenases contribute to mammalian provitamin A metabolism. (PubMed id 24106281)1 Amengual J....von Lintig J. (J. Biol. Chem. 2013)
    10. Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients. (PubMed id 22610502)1 Kennedy R.B....Poland G.A. (Hum. Genet. 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    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)
    About This Section

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    Entrez Gene: 83875 HGNC: 18503 AceView: SDHDandTEX12 Ensembl:ENSG00000197580 euGenes: HUgn83875
    ECgene: BCO2 H-InvDB: BCO2

    (According to HUGE)
    About This Section

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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)
    About This Section

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    NameDescription
    PharmGKB entry for BCO2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for BCO2 gene:
    Search GeneIP for patents involving BCO2

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



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