Human Gene BCO2 (ENST00000532593.5) Description and Page Index
  Description: Homo sapiens beta-carotene oxygenase 2 (BCO2), transcript variant 5, mRNA. (from RefSeq NM_001256400)
RefSeq Summary (NM_001256400): 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].
Gencode Transcript: ENST00000532593.5
Gencode Gene: ENSG00000197580.13
Transcript (Including UTRs)
   Position: hg38 chr11:112,176,375-112,217,990 Size: 41,616 Total Exon Count: 11 Strand: +
Coding Region
   Position: hg38 chr11:112,193,496-112,217,874 Size: 24,379 Coding Exon Count: 10 

Page IndexSequence and LinksUniProtKB CommentsCTDRNA-Seq ExpressionMicroarray Expression
RNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA DescriptionsPathways
Other NamesMethods
Data last updated at UCSC: 2021-01-14 15:32:12

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:112,176,375-112,217,990)mRNA (may differ from genome)Protein (474 aa)
Gene SorterGenome BrowserOther Species FASTATable SchemaBioGPSCGAP
EnsemblEntrez GeneExonPrimerGeneCardsHGNCLynx
MGIneXtProtOMIMPubMedReactomeUniProtKB

-  Comments and Description Text from UniProtKB
  ID: BCDO2_HUMAN
DESCRIPTION: RecName: Full=Beta,beta-carotene 9',10'-oxygenase; EC=1.14.99.n2; AltName: Full=B-diox-II; AltName: Full=Beta-carotene dioxygenase 2;
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: Beta-carotene + O(2) = 10'-apo-beta-carotenal + beta-ionone.
COFACTOR: Binds 1 Fe(2+) ion per subunit (By similarity).
SUBCELLULAR LOCATION: Mitochondrion.
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).
SIMILARITY: Belongs to the carotenoid oxygenase family.
SEQUENCE CAUTION: Sequence=CAC27994.1; Type=Erroneous initiation; Note=Translation N-terminally extended;

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 11.90 RPKM in Heart - Left Ventricle
Total median expression: 104.27 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -19.30106-0.182 Picture PostScript Text
3' UTR -15.60116-0.134 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR004294 - Carotenoid_Oase

Pfam Domains:
PF03055 - Retinal pigment epithelial membrane protein

ModBase Predicted Comparative 3D Structure on Q9BYV7
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0016491 oxidoreductase activity
GO:0016702 oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen
GO:0046872 metal ion binding
GO:0051213 dioxygenase activity

Biological Process:
GO:0001523 retinoid metabolic process
GO:0016116 carotenoid metabolic process
GO:0016119 carotene metabolic process
GO:0016121 carotene catabolic process
GO:0016122 xanthophyll metabolic process
GO:0042573 retinoic acid metabolic process
GO:0042574 retinal metabolic process
GO:0051881 regulation of mitochondrial membrane potential
GO:0055114 oxidation-reduction process
GO:2000377 regulation of reactive oxygen species metabolic process

Cellular Component:
GO:0005622 intracellular
GO:0005739 mitochondrion
GO:0005759 mitochondrial matrix


-  Descriptions from all associated GenBank mRNAs
  AK315300 - Homo sapiens cDNA, FLJ96324, highly similar to Homo sapiens beta-carotene dioxygenase 2 (BCDO2), mRNA.
BC041656 - Homo sapiens beta-carotene oxygenase 2, mRNA (cDNA clone MGC:47563 IMAGE:5175925), complete cds.
BC047934 - Homo sapiens beta-carotene oxygenase 2, mRNA (cDNA clone IMAGE:5199667), with apparent retained intron.
AK091783 - Homo sapiens cDNA FLJ34464 fis, clone HLUNG2003049, weakly similar to Ambystoma tigrinum RPE65 protein mRNA.
AX747181 - Sequence 706 from Patent EP1308459.
AJ290393 - Homo sapiens mRNA for putative b,b-carotene-9',10'-dioxygenase (B-diox-II gene).
CU692016 - Synthetic construct Homo sapiens gateway clone IMAGE:100021150 5' read BCDO2 mRNA.
AF276432 - Homo sapiens putative carotene dioxygenase mRNA, complete cds.
AK027801 - Homo sapiens cDNA FLJ14895 fis, clone PLACE1004646, weakly similar to B.taurus mRNA for retinal pigment epithelial membrane receptor p63.
AK297853 - Homo sapiens cDNA FLJ55991 complete cds, highly similar to Beta,beta-carotene 9',10'-dioxygenase (EC 1.14.99.-).
AB096252 - Homo sapiens LOH11CR1M gene, loss of heterozygosity, 11, chromosomal region 1 gene M product.
JD119705 - Sequence 100729 from Patent EP1572962.
JD386301 - Sequence 367325 from Patent EP1572962.
JD482811 - Sequence 463835 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9BYV7 (Reactome details) participates in the following event(s):

R-HSA-5164399 BCO2:Fe2+ cleaves betaC to APO10al and bION
R-HSA-975634 Retinoid metabolism and transport
R-HSA-2187338 Visual phototransduction
R-HSA-6806667 Metabolism of fat-soluble vitamins
R-HSA-418594 G alpha (i) signalling events
R-HSA-196854 Metabolism of vitamins and cofactors
R-HSA-388396 GPCR downstream signalling
R-HSA-1430728 Metabolism
R-HSA-372790 Signaling by GPCR
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: B0YIX5, BCDO2, BCDO2_HUMAN, ENST00000532593.1, ENST00000532593.2, ENST00000532593.3, ENST00000532593.4, NM_001256400, Q96JC8, Q96JY5, Q9BYV7, uc010rwt.1, uc010rwt.2, uc010rwt.3
UCSC ID: ENST00000532593.5
RefSeq Accession: NM_001256400
Protein: Q9BYV7 (aka BCDO2_HUMAN or BCDP_HUMAN)
CCDS: CCDS58183.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.