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BCO2 beta-carotene oxygenase 2 [ Homo sapiens (human) ]

Gene ID: 83875, updated on 17-Jun-2019

Summary

Official Symbol
BCO2provided by HGNC
Official Full Name
beta-carotene oxygenase 2provided by HGNC
Primary source
HGNC:HGNC:18503
See related
Ensembl:ENSG00000197580 MIM:611740
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
BCDO2; B-DIOX-II
Summary
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]
Expression
Broad expression in heart (RPKM 9.3), liver (RPKM 6.3) and 14 other tissues See more
Orthologs

Genomic context

See BCO2 in Genome Data Viewer
Location:
11q23.1
Exon count:
13
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (112175512..112218933)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (112046208..112089652)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107987164 Neighboring gene testis expressed 12 Neighboring gene potassium channel tetramerization domain containing 9 pseudogene 4 Neighboring gene mitochondrial ribosomal protein S36 pseudogene 4 Neighboring gene ribosomal protein S12 pseudogene 21 Neighboring gene 6-pyruvoyltetrahydropterin synthase Neighboring gene ribosomal protein S6 pseudogene 16

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
A genome-wide association study identifies protein quantitative trait loci (pQTLs).
NHGRI GWA Catalog
Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.
NHGRI GWA Catalog
Genome-wide association study identifies variants at the IL18-BCO2 locus associated with interleukin-18 levels.
NHGRI GWA Catalog
Novel gene variants predict serum levels of the cytokines IL-18 and IL-1ra in older adults.
NHGRI GWA Catalog

Pathways from BioSystems

  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of fat-soluble vitamins, organism-specific biosystem (from REACTOME)
    Metabolism of fat-soluble vitamins, organism-specific biosystemVitamins A, D, E, and K are classified as fat-soluble. Metabolic pathways by which dietary precursors of vitamins A (Harrison 2005) and K(Shearer et al. 2012) are converted to active forms, and by wh...
  • Metabolism of vitamins and cofactors, organism-specific biosystem (from REACTOME)
    Metabolism of vitamins and cofactors, organism-specific biosystemVitamins are a diverse group of organic compounds, classified according to their solubility, either fat-soluble or water-soluble, that are either not synthesized or synthesized only in limited amount...
  • Retinoid metabolism and transport, organism-specific biosystem (from REACTOME)
    Retinoid metabolism and transport, organism-specific biosystemVitamin A (all-trans-retinol) must be taken up, either as carotenes from plants, or as retinyl esters from animal food. The most prominent carotenes are alpha-carotene, lycopene, lutein, beta-cryptox...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Visual phototransduction, organism-specific biosystem (from REACTOME)
    Visual phototransduction, organism-specific biosystemVisual phototransduction is the process by which photon absorption by visual pigment molecules in photoreceptor cells is converted to an electrical cellular response. The events in this process are p...
  • Vitamin A and Carotenoid Metabolism, organism-specific biosystem (from WikiPathways)
    Vitamin A and Carotenoid Metabolism, organism-specific biosystemThis pathway is about carotenoid and vitamin A metabolism. The initial version was created by the NuGO focusteam on Carotenoid metabolism. It was used to test a text mining workflow which added some ...

General gene information

Markers

Potential readthrough

Included genes: SDHD, TEX12

Homology

Clone Names

  • FLJ34464

Gene Ontology Provided by GOA

Function Evidence Code Pubs
beta,beta-carotene-9',10'-cleaving oxygenase activity IEA
Inferred from Electronic Annotation
more info
 
beta-carotene 15,15'-monooxygenase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
carotenoid dioxygenase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen IDA
Inferred from Direct Assay
more info
PubMed 
retinal isomerase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
carotene catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
carotene catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
carotene metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
carotenoid metabolic process ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
oxidation-reduction process IDA
Inferred from Direct Assay
more info
PubMed 
regulation of mitochondrial membrane potential ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
regulation of reactive oxygen species metabolic process ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
retinal metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
retinal metabolic process NAS
Non-traceable Author Statement
more info
PubMed 
retinoic acid metabolic process NAS
Non-traceable Author Statement
more info
PubMed 
retinoid metabolic process TAS
Traceable Author Statement
more info
 
xanthophyll metabolic process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
mitochondrial matrix TAS
Traceable Author Statement
more info
 
mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrion ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
mitochondrion TAS
Traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
beta,beta-carotene 9',10'-oxygenase
Names
b,b-carotene-9',10'-dioxygenase
beta,beta-carotene 9',10'-dioxygenase variant 1
beta,beta-carotene 9',10'-dioxygenase variant 2
beta,beta-carotene 9',10'-dioxygenase variant 3
beta-carotene 9',10' oxygenase
beta-carotene dioxygenase 2
carotenoid-9',10'-cleaving dioxygenase
NP_001032367.3
NP_001243326.2
NP_001243327.2
NP_001243329.2
NP_114144.5

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001037290.3NP_001032367.3  beta,beta-carotene 9',10'-oxygenase isoform b

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains an alternate segment in the 5' UTR and uses a downstream start codon compared to variant 1. The resulting protein (isoform b) has a shorter N-terminus compared to isoform a.
    Source sequence(s)
    AP002884
    Consensus CDS
    CCDS41716.1
    Related
    ENSP00000414843.1, ENST00000438022.5
  2. NM_001256397.2NP_001243326.2  beta,beta-carotene 9',10'-oxygenase isoform c

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) contains an alternate segment in the 5' UTR, uses a downstream start codon and an alternate in-frame splice site in the 3' coding region compared to variant 1. The resulting protein (isoform c) has a shorter N-terminus compared to isoform a.
    Source sequence(s)
    AP002884
    Consensus CDS
    CCDS58182.1
    Related
    ENSP00000436615.1, ENST00000526088.5
  3. NM_001256398.2NP_001243327.2  beta,beta-carotene 9',10'-oxygenase isoform d

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks two alternate in-frame exons compared to variant 1. The resulting protein (isoform d) is shorter compared to isoform a.
    Source sequence(s)
    AP002884
    Consensus CDS
    CCDS58181.1
    Related
    ENSP00000354338.4, ENST00000361053.8
  4. NM_001256400.2NP_001243329.2  beta,beta-carotene 9',10'-oxygenase isoform e

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at downstream start codon compared to variant 1. The encoded protein (isoform e) has a distinct N-terminus and is shorter than isoform a.
    Source sequence(s)
    AP002884
    Consensus CDS
    CCDS58183.1
    Related
    ENSP00000431802.1, ENST00000532593.5
  5. NM_031938.6NP_114144.5  beta,beta-carotene 9',10'-oxygenase isoform a

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest protein (isoform a).
    Source sequence(s)
    AP002884
    Consensus CDS
    CCDS8358.2
    Related
    ENSP00000350314.5, ENST00000357685.9

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    112175512..112218933
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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