BCO2 Gene (Protein Coding)

Beta-Carotene Oxygenase 2

GC11P112175
GIFtS:
38
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] See more...

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,Beta-Carotene 9',10'-Oxygenase 3 4
  • Beta-Carotene 9',10' Oxygenase 2 3
  • B-DIOX-II 2 3
  • 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
  • B,B-Carotene-9',10'-Dioxygenase 3
  • EC 1.14.99.36 51
  • EC 1.13.11.71 4
  • EC 1.14.99 51
  • B-Diox-II 4
  • FLJ34464 2
  • BCO2 5

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. Diseases associated with BCO2 include Chromosome 13Q14 Deletion Syndrome. Among its related pathways are Signaling by GPCR and Drug metabolism - cytochrome P450. Gene Ontology (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 Summary 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.

Additional gene information for BCO2 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for BCO2 Gene

Genomics for BCO2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for BCO2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around BCO2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for BCO2

Top Transcription factor binding sites by QIAGEN in the BCO2 gene promoter:
  • AP-1
  • NF-kappaB
  • NF-kappaB1
  • TBP

Genomic Locations for BCO2 Gene

Latest Assembly
chr11:112,175,510-112,224,699
(GRCh38/hg38)
Size:
49,190 bases
Orientation:
Plus strand

Previous Assembly
chr11:112,046,235-112,089,669
(GRCh37/hg19 by Entrez Gene)
Size:
43,435 bases
Orientation:
Plus strand

chr11:112,046,190-112,095,422
(GRCh37/hg19 by Ensembl)
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 Structure • Gene Density

RefSeq DNA sequence for BCO2 Gene

Proteins for BCO2 Gene

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  • 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=Truncated N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for BCO2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BCO2 Gene

Protein Expression for BCO2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

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

Other Protein References for BCO2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for BCO2 Gene

Gene Families for BCO2 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for BCO2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for BCO2 Gene

GenScript: Design optimal peptide antigens:
  • Beta,beta-carotene 9',10'-dioxygenase variant 2 (B0YIX6_HUMAN)
  • Beta,beta-carotene 9',10'-dioxygenase variant 3 (B0YIX7_HUMAN)
  • Beta-carotene dioxygenase 2 (BCDO2_HUMAN)
  • Beta-carotene dioxygenase 2, isoform CRA_d (Q8IUS0_HUMAN)

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

Function for BCO2 Gene

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  6. Cell Lines for research

Molecular function for BCO2 Gene

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.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=all-trans-beta-carotene + O2 = all-trans-10'-apo-beta-carotenal + beta-ionone; Xref=Rhea:RHEA:26389, ChEBI:CHEBI:15379, ChEBI:CHEBI:17579, ChEBI:CHEBI:32325, ChEBI:CHEBI:53153; EC=1.13.11.71;.

Enzyme Numbers (IUBMB) for BCO2 Gene

Phenotypes From GWAS Catalog for BCO2 Gene

Gene Ontology (GO) - Molecular Function for BCO2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003834 beta-carotene 15,15'-monooxygenase activity IBA 21873635
GO:0010436 carotenoid dioxygenase activity IBA 21873635
GO:0016491 oxidoreductase activity IEA --
GO:0016702 oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen IEA,IDA 11278918
GO:0046872 metal ion binding 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 Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BCO2

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
nucleus 3
cytosol 3
cytoskeleton 2
plasma membrane 1
extracellular 1
peroxisome 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for BCO2 Gene

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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for BCO2 Gene

Pathways & Interactions for BCO2 Gene

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

Pathways by source for BCO2 Gene

1 BioSystems pathway for BCO2 Gene
1 GeneGo (Thomson Reuters) pathway for BCO2 Gene
  • Retinol metabolism

Interacting Proteins for BCO2 Gene

STRING Interaction Network Preview (showing top 5 STRING interactants - click image to see top 6)
STRING Interaction Network
Selected Interacting proteins: ENSP00000350314 Q9BYV7-BCDO2_HUMAN for BCO2 Gene via STRING IID

GPS-Prot Interaction Network for BCO2

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 IBA,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

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(4) Drugs for BCO2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Lycopene Approved, Investigational Pharma 72
Oxygen Approved, Vet_approved Pharma 0
Beta carotene Approved Nutra 77
Fe2+ Experimental Pharma 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
beta-Ionone
  • (e)-beta-Ionone
  • beta-e-Ionone
  • beta-Ionon
  • trans-beta-Ionone
  • (e)-b-Ionone
 79-77-6
genes like me logo Genes that share compounds with BCO2: view

Transcripts for BCO2 Gene

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mRNA/cDNA for BCO2 Gene

5 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
19 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BCO2

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

Expression for BCO2 Gene

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  1. Primer products for research
  2. Gene Expression Assays for research

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

mRNA expression in normal human tissues for BCO2 Gene
mRNA expression by GTEx for BCO2 GenemRNA expression by BioGPS 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(4.4)
  • Nervous system(4.3)
  • Eye(2.2)
  • Muscle(2.2)
genes like me logo Genes that share expression patterns with BCO2: view

Primer products for research

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 30
  • 99.65 (n)
-- 31
  • 99 (a)
 OneToMany
Dog
(Canis familiaris)
 Mammalia BCO2 30
  • 87.06 (n)
-- 31
  • 83 (a)
 OneToMany
Cow
(Bos Taurus)
 Mammalia BCO2 30
  • 85.16 (n)
-- 31
  • 79 (a)
 OneToMany
Mouse
(Mus musculus)
 Mammalia Bco2 30 17 31
  • 83.33 (n)
 OneToMany
Rat
(Rattus norvegicus)
 Mammalia Bco2 30
  • 82.52 (n)
Oppossum
(Monodelphis domestica)
 Mammalia -- 31
  • 74 (a)
 OneToMany
Platypus
(Ornithorhynchus anatinus)
 Mammalia -- 31
  • 72 (a)
 ManyToMany
-- 31
  • 69 (a)
 ManyToMany
Chicken
(Gallus gallus)
 Aves BCO2 30
  • 68.31 (n)
-- 31
  • 63 (a)
 OneToMany
Lizard
(Anolis carolinensis)
 Reptilia -- 31
  • 40 (a)
 OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia bco2 30
  • 64.15 (n)
Zebrafish
(Danio rerio)
 Actinopterygii bco2a 30 31
  • 61.79 (n)
 ManyToMany
bco2b 31
  • 57 (a)
 ManyToMany
bco2l 31
  • 54 (a)
 ManyToMany
bcdo2 30
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP008143 30
  • 45.91 (n)
Fruit Fly
(Drosophila melanogaster)
 Insecta ninaB 30 31
  • 45.07 (n)
 OneToMany
Worm
(Caenorhabditis elegans)
 Secernentea bcmo-2 31
  • 32 (a)
 ManyToMany
bcmo-1 31
  • 31 (a)
 ManyToMany
Rice
(Oryza sativa)
 Liliopsida Os01g0566500 30
  • 43.85 (n)
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 42 (a)
 ManyToMany
-- 31
  • 40 (a)
 ManyToMany
CSA.76 31
  • 34 (a)
 ManyToMany
-- 31
  • 31 (a)
 ManyToMany
CSA.9604 31
  • 30 (a)
 ManyToMany
-- 31
  • 30 (a)
 ManyToMany
Species where no ortholog for BCO2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for BCO2: view image

Paralogs for BCO2 Gene

Paralogs for BCO2 Gene

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

  • BCDO2_HUMAN
  • E9PPP9_HUMAN
  • E9PS89_HUMAN
  • H0YCL7_HUMAN
  • H0YCN8_HUMAN
genes like me logo Genes that share paralogs with BCO2: view

Variants for BCO2 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for BCO2 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
rs144345630 Likely Benign: not provided 112,214,843(+) C/T
NM_031938.7(BCO2):c.1414C>T (p.Arg472Ter) 		NONSENSE
rs10891338 - p.Leu231Pro
rs17113607 - p.Gly289Glu
rs2217401 - p.Ile548Leu

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for BCO2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)

Additional Variant Information for BCO2 Gene

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

SNP Genotyping and Copy Number Assays for research

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

Disorders for BCO2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for BCO2 Gene - From: COP

Disorder Aliases PubMed IDs
chromosome 13q14 deletion syndrome
  • chromosome 13q deletion syndrome
- elite association - COSMIC cancer census association via MalaCards
Search BCO2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for BCO2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with BCO2: view

No data available for 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 (The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society 2005) 2 3 4
  2. Identification and characterization of a mammalian enzyme catalyzing the asymmetric oxidative cleavage of provitamin A. (PMID: 11278918) Kiefer C … von Lintig J (The Journal of biological chemistry 2001) 2 3 4
  3. A mitochondrial enzyme degrades carotenoids and protects against oxidative stress. (PMID: 21106934) Amengual J … von Lintig J (FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2011) 3 4
  4. 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 SD … DREAM investigators (Diabetes care 2010) 3 41
  5. Genome-wide association study identifies variants at the IL18-BCO2 locus associated with interleukin-18 levels. (PMID: 20150558) He M … Qi L (Arteriosclerosis, thrombosis, and vascular biology 2010) 3 41

ExternalLinks

View latest publications for BCO2 gene in Mastermind

Products for BCO2 Gene

Sources for BCO2 Gene