Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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]

Show/Hide all (38)

miRTarBase ID	miRNA	Experiments
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
MIRT820209	hsa-miR-4666-5p	CLIP-seq
MIRT820210	hsa-miR-4667-5p	CLIP-seq
MIRT820211	hsa-miR-4691-5p	CLIP-seq
MIRT820212	hsa-miR-4700-5p	CLIP-seq
MIRT820213	hsa-miR-489	CLIP-seq
MIRT820214	hsa-miR-502-5p	CLIP-seq
MIRT820215	hsa-miR-637	CLIP-seq
MIRT1942391	hsa-miR-1206	CLIP-seq
MIRT1942392	hsa-miR-203	CLIP-seq
MIRT1942393	hsa-miR-579	CLIP-seq
MIRT1942394	hsa-miR-600	CLIP-seq
MIRT2181081	hsa-miR-136	CLIP-seq
MIRT2181082	hsa-miR-15a	CLIP-seq
MIRT2181083	hsa-miR-15b	CLIP-seq
MIRT2181084	hsa-miR-16	CLIP-seq
MIRT2181085	hsa-miR-192	CLIP-seq
MIRT2181086	hsa-miR-195	CLIP-seq
MIRT2181087	hsa-miR-215	CLIP-seq
MIRT2181088	hsa-miR-217	CLIP-seq
MIRT2181089	hsa-miR-3199	CLIP-seq
MIRT2181090	hsa-miR-338-3p	CLIP-seq
MIRT2181091	hsa-miR-3908	CLIP-seq
MIRT2181092	hsa-miR-424	CLIP-seq
MIRT2181093	hsa-miR-4418	CLIP-seq
MIRT2181094	hsa-miR-4530	CLIP-seq
MIRT2181095	hsa-miR-4540	CLIP-seq
MIRT820213	hsa-miR-489	CLIP-seq
MIRT2181096	hsa-miR-497	CLIP-seq
MIRT2181097	hsa-miR-509-3-5p	CLIP-seq
MIRT2181098	hsa-miR-509-5p	CLIP-seq
MIRT2181099	hsa-miR-554	CLIP-seq
MIRT2181100	hsa-miR-606	CLIP-seq
MIRT2181101	hsa-miR-766	CLIP-seq

Show/Hide all (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
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0010436	Function	Carotenoid dioxygenase activity	IBA
GO:0010437	Function	9,10 (9', 10')-carotenoid-cleaving dioxygenase activity	ISS
GO:0016116	Process	Carotenoid metabolic process	IEA
GO:0016116	Process	Carotenoid metabolic process	ISS	21106934
GO:0016119	Process	Carotene metabolic process	IDA	11278918
GO:0016119	Process	Carotene metabolic process	IEA
GO:0016121	Process	Carotene catabolic process	IBA
GO:0016121	Process	Carotene catabolic process	IDA	21302131
GO:0016121	Process	Carotene catabolic process	IEA
GO:0016122	Process	Xanthophyll metabolic process	IEA
GO:0016124	Process	Xanthophyll catabolic process	IEA
GO:0016124	Process	Xanthophyll catabolic process	ISS
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016702	Function	Oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	IDA	11278918, 21302131
GO:0016702	Function	Oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	IEA
GO:0042573	Process	Retinoic acid metabolic process	NAS	11278918
GO:0042574	Process	Retinal metabolic process	IBA
GO:0042574	Process	Retinal metabolic process	IEA
GO:0042574	Process	Retinal metabolic process	NAS	11278918
GO:0046872	Function	Metal ion binding	IEA
GO:0051213	Function	Dioxygenase activity	IEA
GO:0051881	Process	Regulation of mitochondrial membrane potential	IEA
GO:0051881	Process	Regulation of mitochondrial membrane potential	ISS	21106934
GO:0062172	Process	Lutein catabolic process	ISS
GO:0102076	Function	Beta,beta-carotene-9',10'-cleaving oxygenase activity	IEA
GO:0102076	Function	Beta,beta-carotene-9',10'-cleaving oxygenase activity	ISS
GO:1901176	Process	Lycopene catabolic process	ISS
GO:1901826	Process	Zeaxanthin catabolic process	ISS
GO:2000377	Process	Regulation of reactive oxygen species metabolic process	IEA
GO:2000377	Process	Regulation of reactive oxygen species metabolic process	ISS	21106934

MIM	HGNC	e!Ensembl
611740	18503	ENSG00000197580

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

MFFRVFLHFIRSHSATAVDFLPVMVHRLPVFKRYMGNTPQKKAVFGQCRGLPCVAPLLTT
VEEAPRGISARVWGHFPKWLNGSLLRIGPGKFEFGKDKYNHWFDGMALLHQFRMAKGTVT
YRSKFLQSDTYKANSAKNRIVISEFGTLALPDPCKNVFERFMSRFELPGKAAAMTDNTNV
NYVRYKGDYYLCTETNFMNKVDIETLEKTEKVDWSKFIAVNGATAHPHYDLDGTAYNMGN
SFGPYGFSYKVIRVPPEKVDLGETIHGVQVICSIASTEKGKPSYYHSFGMTRNYIIFIEQ
PLKMNLWKIATSKIRGKAFSDGISWEPQCNTRFHVVEKRTGQLLPGRYYSKPFVTFHQIN
AFEDQGCVIIDLCCQDNGRTLEVYQLQNLRKAGEGLDQVHNSAAKSFPRRFVLPLNVSLN
APEGDNLSPLSYTSASAVKQADGTIWCSHENLHQEDLEKEGGIEFPQIYYDRFSGKKYHF
FYGCGFRHLVGDSLIKVDVVNKTLKVWREDGFYPSEPVFVPAPGTNEEDGGVILSVVITP
NQNESNFILVLDAKNFEELGRAEVPVQMPYGFHGTFIPI

Sequence length

579

Interactions

View interactions

	Reactome
			Retinoid metabolism and transport

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
CARCINOMA, HEPATOCELLULAR	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 6	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (16)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Cerebral Infarction	Ischemic stroke	Pubtator	31250580	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	18853133	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	GWASCAT_DG	30868120		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	31250580		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	25293877, 29434842, 30446518		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CTD_human_DG	28284560		★★★★★ ★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	24346170	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	27406826, 27807077		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	27406826		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	28482236		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	27406826		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	29266812, 30006135, 31212314		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	27406826, 27807077		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	27406826	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	29266812		★★★★★ ★☆☆☆☆ Found in Text Mining only
Vitamin A Deficiency	Vitamin A Deficiency	BEFREE	24106281, 29892071		★★★★★ ★☆☆☆☆ Found in Text Mining only

BCO2 (beta-carotene oxygenase 2)