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

    Gene ID: 83875, updated on 27-Nov-2024

    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; AllianceGenome:HGNC:18503
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See BCO2 in Genome Data Viewer
    Location:
    11q23.1
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (112175512..112218946)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (112185841..112229285)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (112046235..112089669)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107987164 Neighboring gene testis expressed 12 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:112048596-112048762 Neighboring gene potassium channel tetramerization domain containing 9 pseudogene 4 Neighboring gene mitochondrial ribosomal protein S36 pseudogene 4 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:112090776-112090983 Neighboring gene ribosomal protein S12 pseudogene 21 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3906 Neighboring gene Sharpr-MPRA regulatory region 3969 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 Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

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

    Pathways from PubChem

    General gene information

    Markers

    Potential readthrough

    Included genes: SDHD, TEX12

    Clone Names

    • FLJ34464

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in carotene catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in carotene catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in carotene metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in carotenoid metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in lutein catabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in lycopene catabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of mitochondrial membrane potential ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in regulation of reactive oxygen species metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in retinal metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in retinal metabolic process NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in retinoic acid metabolic process NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in xanthophyll catabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in zeaxanthin catabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    located_in mitochondrial matrix TAS
    Traceable Author Statement
    more info
     
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in mitochondrion ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    located_in mitochondrion TAS
    Traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    carotenoid-cleaving dioxygenase, mitochondrial
    Names
    b,b-carotene-9',10'-dioxygenase
    beta,beta-carotene 9',10'-oxygenase
    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)

    NEW Try the new Transcript table

    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_001037290.4NP_001032367.3  carotenoid-cleaving dioxygenase, mitochondrial 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
      UniProtKB/TrEMBL
      B0YIX6
      Related
      ENSP00000414843.1, ENST00000438022.5
      Conserved Domains (1) summary
      pfam03055
      Location:29544
      RPE65; Retinal pigment epithelial membrane protein
    2. NM_001256397.3NP_001243326.2  carotenoid-cleaving dioxygenase, mitochondrial 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
      UniProtKB/TrEMBL
      B0YIX6
      Related
      ENSP00000436615.1, ENST00000526088.5
      Conserved Domains (1) summary
      pfam03055
      Location:29538
      RPE65; Retinal pigment epithelial membrane protein
    3. NM_001256398.3NP_001243327.2  carotenoid-cleaving dioxygenase, mitochondrial 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
      UniProtKB/TrEMBL
      B0YIX7
      Related
      ENSP00000354338.4, ENST00000361053.8
      Conserved Domains (1) summary
      pfam03055
      Location:63505
      RPE65; Retinal pigment epithelial membrane protein
    4. NM_001256400.3NP_001243329.2  carotenoid-cleaving dioxygenase, mitochondrial 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
      UniProtKB/TrEMBL
      B0YIX6
      Related
      ENSP00000431802.1, ENST00000532593.5
      Conserved Domains (1) summary
      pfam03055
      Location:1473
      RPE65; Retinal pigment epithelial membrane protein
    5. NM_031938.7NP_114144.5  carotenoid-cleaving dioxygenase, mitochondrial 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
      UniProtKB/Swiss-Prot
      B0YIX5, B4DNC3, E9PBI8, E9PJJ1, Q8IUS0, Q96JC8, Q96JY5, Q9BYV7
      UniProtKB/TrEMBL
      B0YIX6
      Related
      ENSP00000350314.5, ENST00000357685.11
      Conserved Domains (1) summary
      pfam03055
      Location:74577
      RPE65; Retinal pigment epithelial membrane protein

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      112175512..112218946
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      112185841..112229285
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)