• Gene id: 83875

Gene Summary

• Gene Symbol: BCO2   Gene   UCSC   Ensembl
• Aliases: B-DIOX-II, BCDO2
• Gene name: beta-carotene oxygenase 2
• Alternate names: beta,beta-carotene 9',10'-oxygenase, 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-caroten,
• Gene location: 11q23.1 (112175511: 112218945)     Exons: 13     NC_000011.10
• Gene summary(Entrez): 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]
• OMIM: 611740

Protein Summary

• Protein general information: Q9BYV7  
  • Name: Beta,beta carotene 9',10' oxygenase (EC 1.13.11.71) (B diox II) (Beta carotene dioxygenase 2)
  • Length: 579  
  • Mass: 65674
  • 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
• Sequence:

  MFFRVFLHFIRSHSATAVDFLPVMVHRLPVFKRYMGNTPQKKAVFGQCRGLPCVAPLLTTVEEAPRGISARVWGH
  FPKWLNGSLLRIGPGKFEFGKDKYNHWFDGMALLHQFRMAKGTVTYRSKFLQSDTYKANSAKNRIVISEFGTLAL
  PDPCKNVFERFMSRFELPGKAAAMTDNTNVNYVRYKGDYYLCTETNFMNKVDIETLEKTEKVDWSKFIAVNGATA
  HPHYDLDGTAYNMGNSFGPYGFSYKVIRVPPEKVDLGETIHGVQVICSIASTEKGKPSYYHSFGMTRNYIIFIEQ
  PLKMNLWKIATSKIRGKAFSDGISWEPQCNTRFHVVEKRTGQLLPGRYYSKPFVTFHQINAFEDQGCVIIDLCCQ
  DNGRTLEVYQLQNLRKAGEGLDQVHNSAAKSFPRRFVLPLNVSLNAPEGDNLSPLSYTSASAVKQADGTIWCSHE
  NLHQEDLEKEGGIEFPQIYYDRFSGKKYHFFYGCGFRHLVGDSLIKVDVVNKTLKVWREDGFYPSEPVFVPAPGT
  NEEDGGVILSVVITPNQNESNFILVLDAKNFEELGRAEVPVQMPYGFHGTFIPI

• Structural information:
  • Interpro: IPR004294  
  • STRING: ENSP00000350314
• Other Databases: GeneCards:  BCO2  Malacards:  BCO2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004744	retinal isomerase activity	IBA	molecular function
GO:0016121	carotene catabolic process	IBA	biological process
GO:0010436	carotenoid dioxygenase activity	IBA	molecular function
GO:0005739	mitochondrion	IBA	cellular component
GO:0003834	beta-carotene 15,15'-monooxygenase activity	IBA	molecular function
GO:0016702	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0051213	dioxygenase activity	IEA	molecular function
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0102076	beta,beta-carotene-9',10'-cleaving oxygenase activity	IEA	molecular function
GO:0001523	retinoid metabolic process	TAS	biological process
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0016116	carotenoid metabolic process	IEA	biological process
GO:0016702	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0016119	carotene metabolic process	IEA	biological process
GO:0016121	carotene catabolic process	IEA	biological process
GO:0016122	xanthophyll metabolic process	IEA	biological process
GO:0042574	retinal metabolic process	IEA	biological process
GO:0051881	regulation of mitochondrial membrane potential	IEA	biological process
GO:2000377	regulation of reactive oxygen species metabolic process	IEA	biological process
GO:0016702	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	IDA	molecular function
GO:0055114	oxidation-reduction process	IDA	biological process
GO:0016121	carotene catabolic process	IDA	biological process
GO:0016116	carotenoid metabolic process	ISS	biological process
GO:0005739	mitochondrion	ISS	cellular component
GO:0005739	mitochondrion	TAS	cellular component
GO:0051881	regulation of mitochondrial membrane potential	ISS	biological process
GO:2000377	regulation of reactive oxygen species metabolic process	ISS	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0016702	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	IDA	molecular function
GO:0016119	carotene metabolic process	IDA	biological process
GO:0042574	retinal metabolic process	NAS	biological process
GO:0042573	retinoic acid metabolic process	NAS	biological process

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)