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Aliases for BCO2 Gene

Aliases for BCO2 Gene

  • Beta-Carotene Oxygenase 2 2 3 5
  • Beta-Carotene Dioxygenase 2 2 3 4
  • Carotenoid-9,10-Cleaving Dioxygenase 2 3
  • Beta-Carotene 9,10 Oxygenase 2 3
  • B-DIOX-II 3 4
  • BCDO2 3 4
  • Beta,Beta-Carotene 9,10-Dioxygenase Variant 1 3
  • Beta,Beta-Carotene 9,10-Dioxygenase Variant 2 3
  • Beta,Beta-Carotene 9,10-Dioxygenase Variant 3 3
  • Beta,Beta-Carotene 9,10-Oxygenase 3
  • B,B-Carotene-9,10-Dioxygenase 3
  • EC 1.14.99.36 61
  • EC 1.13.11.71 4
  • EC 1.14.99 61

External Ids for BCO2 Gene

Previous HGNC Symbols for BCO2 Gene

  • BCDO2

Previous GeneCards Identifiers for BCO2 Gene

  • GC11P111552
  • GC11P112046
  • GC11P107970

Summaries for BCO2 Gene

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. Among its related pathways are Metabolism of fat-soluble vitamins and Signaling by GPCR. 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 RPE65.

UniProtKB/Swiss-Prot for BCO2 Gene

  • 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.

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BCO2 Gene

Genomics for BCO2 Gene

Regulatory Elements for BCO2 Gene

Enhancers for BCO2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11G112155 1.6 FANTOM5 Ensembl ENCODE 26.1 -13.9 -13925 11.5 FOXA2 SIN3A FEZF1 BRCA1 YY1 FOS ZHX2 REST MIER2 CREB3 IL18 BCO2 TIMM8B SDHD C11orf88
GH11G112128 1 Ensembl ENCODE 28.1 -46.4 -46385 2.2 KLF1 NFIB JUN KLF17 FOSL1 GATA3 ZBTB48 FOS PRDM10 TCF7L2 BCO2 IL18 TEX12 ENSG00000254638 TIMM8B SDHD C11orf57 PIH1D2 CRYAB HSPB2
GH11G112179 0.9 Ensembl ENCODE 26.6 +4.1 4129 0.8 MTA2 ZBED1 MAX DPF2 ATF2 TBX21 ARID3A IKZF1 RELB IKZF2 BCO2 SDHD TIMM8B KCTD9P4
GH11G112174 0.9 ENCODE 26.4 +0.2 247 2.2 HDAC1 PKNOX1 ATF1 NFIB INSM2 ARID4B SIN3A BMI1 RAD21 RARA BCO2 SDHD TIMM8B KCTD9P4
GH11G112212 0.6 ENCODE 16.3 +37.1 37116 0.8 FOSL1 SSRP1 ZNF316 SMAD5 POLR2A BHLHE40 PRDM1 RBFOX2 BCO2 MRPS36P4 RPS12P21
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around BCO2 on UCSC Golden Path with GeneCards custom track

Promoters for BCO2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000044969 -67 401 HDAC1 PKNOX1 ATF1 INSM2 ARID4B SIN3A BMI1 RAD21 RARA YY1

Genomic Location for BCO2 Gene

Chromosome:
11
Start:
112,175,467 bp from pter
End:
112,224,699 bp from pter
Size:
49,233 bases
Orientation:
Plus strand

Genomic View for BCO2 Gene

Genes around BCO2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BCO2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BCO2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BCO2 Gene

Proteins for BCO2 Gene

  • Protein details for BCO2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BYV7-BCDO2_HUMAN
    Recommended name:
    Beta,beta-carotene 9,10-oxygenase
    Protein Accession:
    Q9BYV7
    Secondary Accessions:
    • B0YIX5
    • B4DNC3
    • E9PBI8
    • E9PJJ1
    • Q8IUS0
    • Q96JC8
    • Q96JY5

    Protein attributes for BCO2 Gene

    Size:
    579 amino acids
    Molecular mass:
    65674 Da
    Cofactor:
    Name=Fe(2+); Xref=ChEBI:CHEBI:29033;
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=CAC27994.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for BCO2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BCO2 Gene

Selected DME Specific Peptides for BCO2 Gene

Q9BYV7:
  • GPGKFEFGKD
  • IDLCCQD
  • SKFLQSDTYKANSA
  • GVILSVVITPNQ
  • PSYYHSFG
  • KPSYYHSFGMT
  • YNHWFDG
  • YNHWFDGMALLHQFRM
  • ESNFLLVLDAK
  • TETNFMNKVDIE
  • TSKIRGK
  • DGISWEPQ
  • EGGIEFPQI
  • ELGRAEVPVQMPYGFHGTF
  • TEKVDWSKFIAVNGATAHPHYDPDGTAYNMGNS

Post-translational modifications for BCO2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for BCO2 Gene

Protein Domains for BCO2 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q9BYV7

UniProtKB/Swiss-Prot:

BCDO2_HUMAN :
  • Belongs to the carotenoid oxygenase family.
Family:
  • Belongs to the carotenoid oxygenase family.
genes like me logo Genes that share domains with BCO2: view

No data available for Gene Families for BCO2 Gene

Function for BCO2 Gene

Molecular function for BCO2 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
All-trans-beta-carotene + O(2) = all-trans-10-apo-beta-carotenal + beta-ionone.
UniProtKB/Swiss-Prot 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.

Enzyme Numbers (IUBMB) for BCO2 Gene

Gene Ontology (GO) - Molecular Function for BCO2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016491 oxidoreductase activity IEA --
GO:0016702 oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen TAS,IEA --
GO:0046872 metal ion binding IEA --
GO:0051213 dioxygenase activity IEA --
genes like me logo Genes that share ontologies with BCO2: view
genes like me logo Genes that share phenotypes with BCO2: view

Animal Models for BCO2 Gene

MGI Knock Outs for BCO2:

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for BCO2 Gene

Localization for BCO2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BCO2 Gene

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BCO2 gene
Compartment Confidence
mitochondrion 5
cytosol 3
cytoskeleton 2
nucleus 2

Gene Ontology (GO) - Cellular Components for BCO2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IC 11278918
GO:0005739 mitochondrion TAS 21106934
GO:0005759 mitochondrial matrix TAS --
genes like me logo Genes that share ontologies with BCO2: view

Pathways & Interactions for BCO2 Gene

genes like me logo Genes that share pathways with BCO2: view

Pathways by source for BCO2 Gene

1 GeneGo (Thomson Reuters) pathway for BCO2 Gene

Interacting Proteins for BCO2 Gene

Selected Interacting proteins: Q9BYV7-BCDO2_HUMAN for BCO2 Gene via IID

Symbol External ID(s) Details
BCO1
RPE65

Gene Ontology (GO) - Biological Process for BCO2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001523 retinoid metabolic process TAS --
GO:0016116 carotenoid metabolic process ISS 21106934
GO:0016119 carotene metabolic process IDA 11278918
GO:0016121 carotene catabolic process IDA 21302131
GO:0016122 xanthophyll metabolic process IEA --
genes like me logo Genes that share ontologies with BCO2: view

No data available for SIGNOR curated interactions for BCO2 Gene

Drugs & Compounds for BCO2 Gene

(2) Drugs for BCO2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Oxygen Approved, Vet_approved Pharma 0
Lycopene Nutra 59

(3) Additional Compounds for BCO2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
B-Carotene
  • (all-E)-1,1'-(3,7,12,16-Tetramethyl-1,3,5,7,9,11,13,15,17-octadecanonaene-1,18-diyl)bis
  • (all-E)-1,1'-(3,7,12,16-tetramethyl-1,3,5,7,9,11,13,15,17-octadecanonaene-1,18-diyl)bis[2,6,6-trimethyl-Cyclohexene
  • All-E-b-Carotene
  • All-epsilon-beta-Carotene
  • All-trans-b-Carotene
7235-40-7
beta-Ionone
  • (3E)-4-(2,6,6-Trimethyl-1-cyclohexen-1-yl)-3-buten-2-one
  • (3E)-4-(2,6,6-trimethylcyclohex-1-en-1-yl)but-3-en-2-one
  • (E)-beta -ionone
  • (E)-beta-ionone
  • 4-(2,6,6-Trimethyl-1-cyclohexen-1-yl)-(E)-3-Buten-2-one
79-77-6
Fe2+
  • Armco iron
  • Carbonyl iron
  • FE
  • Ferrovac e
  • Hematite
15438-31-0
genes like me logo Genes that share compounds with BCO2: view

Transcripts for BCO2 Gene

Unigene Clusters for BCO2 Gene

Beta-carotene oxygenase 2:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for BCO2 Gene

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: - - - - -
SP6: - - - - -
SP7: - - - - - - -
SP8: - - -
SP9: -
SP10: -
SP11: - -

Relevant External Links for BCO2 Gene

GeneLoc Exon Structure for
BCO2
ECgene alternative splicing isoforms for
BCO2

Expression for BCO2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for BCO2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for BCO2 Gene

This gene is overexpressed in Heart - Left Ventricle (x8.5), Liver (x8.0), Heart - Atrial Appendage (x5.8), and Adrenal Gland (x4.3).

Protein differential expression in normal tissues from HIPED for BCO2 Gene

This gene is overexpressed in Gallbladder (24.7), Cervix (14.5), Liver (12.0), Heart (10.1), and Plasma (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for BCO2 Gene



Protein tissue co-expression partners for BCO2 Gene

NURSA nuclear receptor signaling pathways regulating expression of BCO2 Gene:

BCO2

SOURCE GeneReport for Unigene cluster for BCO2 Gene:

Hs.728325

mRNA Expression by UniProt/SwissProt for BCO2 Gene:

Q9BYV7-BCDO2_HUMAN
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).

Evidence on tissue expression from TISSUES for BCO2 Gene

  • Liver(4.5)
  • Heart(4.3)
  • Nervous system(4.1)
genes like me logo Genes that share expression patterns with BCO2: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for BCO2 Gene

Orthologs for BCO2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for BCO2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia BCO2 34
  • 99.65 (n)
-- 35
  • 99 (a)
OneToMany
dog
(Canis familiaris)
Mammalia BCO2 34
  • 87.06 (n)
-- 35
  • 83 (a)
OneToMany
cow
(Bos Taurus)
Mammalia BCO2 34
  • 85.16 (n)
-- 35
  • 79 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Bco2 34 16 35
  • 83.33 (n)
rat
(Rattus norvegicus)
Mammalia Bco2 34
  • 82.52 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 74 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 72 (a)
ManyToMany
-- 35
  • 69 (a)
ManyToMany
chicken
(Gallus gallus)
Aves BCO2 34
  • 68.31 (n)
-- 35
  • 63 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 40 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia bco2 34
  • 64.15 (n)
zebrafish
(Danio rerio)
Actinopterygii bco2a 34 35
  • 61.79 (n)
bco2b 35
  • 57 (a)
ManyToMany
bco2l 35
  • 54 (a)
ManyToMany
bcdo2 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008143 34
  • 45.91 (n)
fruit fly
(Drosophila melanogaster)
Insecta ninaB 34 35
  • 45.07 (n)
worm
(Caenorhabditis elegans)
Secernentea bcmo-2 35
  • 32 (a)
ManyToMany
bcmo-1 35
  • 31 (a)
ManyToMany
rice
(Oryza sativa)
Liliopsida Os01g0566500 34
  • 43.85 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 42 (a)
ManyToMany
-- 35
  • 40 (a)
ManyToMany
CSA.76 35
  • 34 (a)
ManyToMany
-- 35
  • 31 (a)
ManyToMany
-- 35
  • 30 (a)
ManyToMany
CSA.9604 35
  • 30 (a)
ManyToMany
Species where no ortholog for BCO2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for BCO2 Gene

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

Paralogs for BCO2 Gene

Paralogs for BCO2 Gene

(3) SIMAP similar genes for BCO2 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with BCO2: view

Variants for BCO2 Gene

Sequence variations from dbSNP and Humsavar for BCO2 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs1000009574 -- 112,195,445(+) CTTTT(A/T)TTTAT intron-variant
rs1000108893 -- 112,211,938(+) ATTTG(A/T)AGCGT intron-variant
rs1000600787 -- 112,216,805(+) CACTA(C/T)GCACT intron-variant
rs1000616546 -- 112,206,353(+) CAGAC(A/G)GTGGG intron-variant
rs1000871357 -- 112,203,686(+) TAGAC(C/T)TCTAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for BCO2 Gene

Variant ID Type Subtype PubMed ID
esv2745077 CNV deletion 23290073
esv2761708 CNV loss 21179565
esv3303552 CNV mobile element insertion 20981092
esv3343479 CNV insertion 20981092
esv3579908 CNV loss 25503493
nsv493 CNV insertion 18451855
nsv519192 CNV gain 19592680
nsv525636 CNV loss 19592680
nsv972072 CNV duplication 23825009

Variation tolerance for BCO2 Gene

Residual Variation Intolerance Score: 97.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.27; 40.77% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for BCO2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
BCO2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BCO2 Gene

Disorders for BCO2 Gene

Relevant External Links for BCO2

Genetic Association Database (GAD)
BCO2
Human Genome Epidemiology (HuGE) Navigator
BCO2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
BCO2

No disorders were found for BCO2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for BCO2 Gene

Publications for BCO2 Gene

  1. Cell type-specific expression of beta-carotene 9',10'-monooxygenase in human tissues. (PMID: 15983114) Lindqvist A. … Andersson S. (J. Histochem. Cytochem. 2005) 2 3 4 64
  2. Identification and characterization of a mammalian enzyme catalyzing the asymmetric oxidative cleavage of provitamin A. (PMID: 11278918) Kiefer C. … von Lintig J. (J. Biol. Chem. 2001) 2 3 4 64
  3. A mitochondrial enzyme degrades carotenoids and protects against oxidative stress. (PMID: 21106934) Amengual J. … von Lintig J. (FASEB J. 2011) 3 4 64
  4. Genome-wide association study identifies variants at the IL18-BCO2 locus associated with interleukin-18 levels. (PMID: 20150558) He M. … Qi L. (Arterioscler. Thromb. Vasc. Biol. 2010) 3 46 64
  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. (PMID: 20628086) Bailey S.D. … Anand S. (Diabetes Care 2010) 3 46 64

Products for BCO2 Gene

Sources for BCO2 Gene

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