Gene Gene information from NCBI Gene database.
Entrez ID 83875
Gene name Beta-carotene oxygenase 2
Gene symbol BCO2
Synonyms (NCBI Gene)
B-DIOX-IIBCDO2
Chromosome 11
Chromosome location 11q23.1
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]
miRNA miRNA information provided by mirtarbase database.
38
miRTarBase ID miRNA Experiments Reference
MIRT820204 hsa-miR-1236 CLIP-seq
MIRT820205 hsa-miR-376c CLIP-seq
MIRT820206 hsa-miR-3944-5p CLIP-seq
MIRT820207 hsa-miR-4313 CLIP-seq
MIRT820208 hsa-miR-4314 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
37
GO ID Ontology Definition Evidence Reference
GO:0003834 Function Beta-carotene 15,15'-dioxygenase activity IBA
GO:0005739 Component Mitochondrion IBA
GO:0005739 Component Mitochondrion IEA
GO:0005739 Component Mitochondrion ISS 21106934
GO:0005739 Component Mitochondrion TAS 21106934
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
611740 18503 ENSG00000197580
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9BYV7
Protein name Carotenoid-cleaving dioxygenase, mitochondrial (EC 1.13.11.-) (EC 1.13.11.71) (B-diox-II) (Beta,beta-carotene 9',10'-oxygenase) (Beta-carotene dioxygenase 2)
Protein function Broad specificity mitochondrial dioxygenase that mediates the asymmetric oxidative cleavage of carotenoids. Cleaves carotenes (pure hydrocarbon carotenoids) such as all-trans-beta-carotene and lycopene as well as xanthophylls (oxygenated caroten
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03055 RPE65 58 578 Retinal pigment epithelial membrane protein Family
Tissue specificity 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). {ECO:0000269|PubMed:15983114}.
Sequence
Sequence length 579
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Retinoid metabolism and transport
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
2
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 6 Uncertain significance rs780599024 RCV003990860
Lung cancer Uncertain significance rs202014484 RCV005927184
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Cerebral Infarction Associate 31250580
Diabetes Mellitus Type 2 Associate 18853133
Macular Degeneration Associate 24346170
Neoplasms Associate 27406826
Prostatic Neoplasms Associate 27406826