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

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: mouse all
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Genomic context

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_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The human mitochondrial enzyme BCO2 exhibits catalytic activity toward carotenoids and apocarotenoids.
Title: The human mitochondrial enzyme BCO2 exhibits catalytic activity toward carotenoids and apocarotenoids.
Evolutionary aspects and enzymology of metazoan carotenoid cleavage oxygenases.
Title: Evolutionary aspects and enzymology of metazoan carotenoid cleavage oxygenases.
Enzymology of vertebrate carotenoid oxygenases.
Title: Enzymology of vertebrate carotenoid oxygenases.
Associations for BCO2, PCSK9, and TR1B1 Polymorphism and Lifestyle Factors with Ischemic Stroke
Title: Associations for BCO2, PCSK9, and TR1B1 Polymorphism and Lifestyle Factors with Ischemic Stroke: A Nested Case-Control Study.
Study identifies BCO2 as a tumor suppressor in prostate cancer which mediates inhibition of NF-kB signaling. Its expression is decreased in human prostate cancer.
Title: Mitochondrial β-Carotene 9',10' Oxygenase Modulates Prostate Cancer Growth via NF-κB Inhibition: A Lycopene-Independent Function.
review of molecular aspects in carotenoid metabolism and diseases
Title: Molecular aspects of β, β-carotene-9', 10'-oxygenase 2 in carotenoid metabolism and diseases.
Role of beta-Carotene 9,10-Dioxygenase in Macular Pigment Metabolism
Title: Characterization of the Role of β-Carotene 9,10-Dioxygenase in Macular Pigment Metabolism.
Inactivity of human beta,beta-carotene-9',10'-dioxygenase (BCO2) underlies retinal accumulation of the human macular carotenoid pigment.
Title: Inactivity of human β,β-carotene-9',10'-dioxygenase (BCO2) underlies retinal accumulation of the human macular carotenoid pigment.
a stepwise cleavage by BCO2 and BCO1 with APO10ol as an intermediate could provide a mechanism to tailor asymmetric carotenoids such as beta-cryptoxanthin for vitamin A production.
Title: Two carotenoid oxygenases contribute to mammalian provitamin A metabolism.
The gene encoding beta-carotene-9',10'-oxygenase, which cleaves the 9',10' double bond in beta-carotene into beta-apo-10'-carotenal, was cloned and expressed in Escherichia coli.
Title: Production of β-apo-10'-carotenal from β-carotene by human β-carotene-9',10'-oxygenase expressed in E. coli.

Submit: New GeneRIF Correction See all GeneRIFs (13)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

General gene information

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Markers

SGC30933 (e-PCR)
- UniSTS:75598

RH77842 (e-PCR)
- UniSTS:36322

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 9,10 (9', 10')-carotenoid-cleaving dioxygenase activity	ISS Inferred from Sequence or Structural Similarity more info
enables beta,beta-carotene-9',10'-cleaving oxygenase activity	ISS Inferred from Sequence or Structural Similarity more info
enables beta-carotene 15,15'-dioxygenase activity	IBA Inferred from Biological aspect of Ancestor more info
enables carotenoid dioxygenase activity	IBA Inferred from Biological aspect of Ancestor more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	IDA Inferred from Direct Assay more info	PubMed

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

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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

EC 1.13.11.71

NP_001243326.2

EC 1.13.11.71

NP_001243327.2

EC 1.13.11.71

NP_001243329.2

EC 1.13.11.71

NP_114144.5

EC 1.13.11.71

NCBI Reference Sequences (RefSeq)

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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)

NM_001037290.4 → NP_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:29 → 544

RPE65; Retinal pigment epithelial membrane protein
NM_001256397.3 → NP_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:29 → 538

RPE65; Retinal pigment epithelial membrane protein
NM_001256398.3 → NP_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:63 → 505

RPE65; Retinal pigment epithelial membrane protein
NM_001256400.3 → NP_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:1 → 473

RPE65; Retinal pigment epithelial membrane protein
NM_031938.7 → NP_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:74 → 577

RPE65; Retinal pigment epithelial membrane protein