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

Gene ID: 83875, updated on 7-Dec-2014
Official Symbol
BCO2provided by HGNC
Official Full Name
beta-carotene oxygenase 2provided by HGNC
Primary source
HGNC:HGNC:18503
See related
Ensembl:ENSG00000197580; HPRD:12522; MIM:611740; Vega:OTTHUMG00000167155
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]
See BCO2 in Epigenomics, MapViewer
Location:
11q23.1
Exon count:
13
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 11 NC_000011.10 (112175485..112218929)
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 interleukin 18 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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
  • Disease, organism-specific biosystem (from REACTOME)
    Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
  • Diseases associated with visual transduction, organism-specific biosystem (from REACTOME)
    Diseases associated with visual transduction, organism-specific biosystemThe process of vision involves two stages; the retinoid cycle which supplies and regenerates the visual chromophore required for vision and phototransduction which propagates the light signal. Defect...
  • 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 ...

Markers

Potential readthrough

Included genes: SDHD, TEX12

Homology

Clone Names

  • FLJ34464

Gene Ontology Provided by GOA

Process Evidence Code Pubs
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 NAS
Non-traceable Author Statement
more info
PubMed 
retinoic acid metabolic process NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
intracellular IC
Inferred by Curator
more info
PubMed 
mitochondrion ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
mitochondrion TAS
Traceable Author Statement
more info
PubMed 
Preferred Names
beta,beta-carotene 9',10'-oxygenase
Names
beta,beta-carotene 9',10'-oxygenase
beta-carotene dioxygenase 2
beta-carotene 9',10' oxygenase
b,b-carotene-9',10'-dioxygenase
carotenoid-9',10'-cleaving dioxygenase
beta,beta-carotene 9',10'-dioxygenase variant 1
NP_001032367.2
NP_001243326.1
NP_001243327.1
NP_001243329.1
NP_114144.4

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_001037290.2NP_001032367.2  beta,beta-carotene 9',10'-oxygenase isoform b

    See proteins identical to NP_001032367.2

    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)
    AF276432, AP002884, BU732625, BX503569
    Consensus CDS
    CCDS41716.1
    UniProtKB/Swiss-Prot
    Q9BYV7
    Conserved Domains (1) summary
    pfam03055
    Location:28544
    RPE65; Retinal pigment epithelial membrane protein
  2. NM_001256397.1NP_001243326.1  beta,beta-carotene 9',10'-oxygenase isoform c

    See proteins identical to NP_001243326.1

    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)
    AK027801, AP002884, BU732625
    Consensus CDS
    CCDS58182.1
    UniProtKB/Swiss-Prot
    Q9BYV7
    Conserved Domains (1) summary
    pfam03055
    Location:28538
    RPE65; Retinal pigment epithelial membrane protein
  3. NM_001256398.1NP_001243327.1  beta,beta-carotene 9',10'-oxygenase isoform d

    See proteins identical to NP_001243327.1

    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, BC041656, BU732625
    Consensus CDS
    CCDS58181.1
    UniProtKB/Swiss-Prot
    Q9BYV7
    Conserved Domains (1) summary
    pfam03055
    Location:62505
    RPE65; Retinal pigment epithelial membrane protein
  4. NM_001256400.1NP_001243329.1  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)
    AK297853, AP002884, BU732625
    Consensus CDS
    CCDS58183.1
    UniProtKB/Swiss-Prot
    Q9BYV7
    Conserved Domains (1) summary
    pfam03055
    Location:1473
    RPE65; Retinal pigment epithelial membrane protein
  5. NM_031938.5NP_114144.4  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)
    AK315300, AP002884, BU732625
    Consensus CDS
    CCDS8358.2
    UniProtKB/TrEMBL
    B2RCV8
    Related
    ENSP00000350314, OTTHUMP00000163945, ENST00000357685, OTTHUMT00000256570
    Conserved Domains (1) summary
    pfam03055
    Location:62578
    RPE65; Retinal pigment epithelial membrane protein

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000011.10 

    Range
    112175485..112218929
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018922.2 

    Range
    111929662..111973106
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000143.1 

    Range
    107970380..108015210
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)