BCO2 - beta-carotene oxygenase 2 Gene

Also Known as BCDO2; B-DIOX-II

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 83875

About BCO2

Cytogenetic location: 11q23.1 Genomic coordinates (GRCh38): 11:112,175,512-112,218,946 (from NCBI)

This gene has 19 transcripts (splice variants), 338 orthologues and 2 paralogues. Broad expression in heart (RPKM 9.3), liver (RPKM 6.3) and 14 other tissues.

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]

BCO2 Products (5)

mRNA Protein Name
NM_001037290.4 NP_001032367.3 carotenoid-cleaving dioxygenase, mitochondrial isoform b
NM_001256397.3 NP_001243326.2 carotenoid-cleaving dioxygenase, mitochondrial isoform c
NM_001256398.3 NP_001243327.2 carotenoid-cleaving dioxygenase, mitochondrial isoform d
NM_001256400.3 NP_001243329.2 carotenoid-cleaving dioxygenase, mitochondrial isoform e
NM_031938.7 NP_114144.5 carotenoid-cleaving dioxygenase, mitochondrial isoform a
Molecular Function GO Annotation Evidence References Source
enables oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen IDA
IDA: Inferred from direct assay
11278918 GOA
Biological Process GO Annotation Evidence References Source
involved in carotene catabolic process IDA
IDA: Inferred from direct assay
21302131 GOA
involved in carotene metabolic process IDA
IDA: Inferred from direct assay
11278918 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

BCO2 Protein Structure

RPE65

RPE65: Retinal pigment epithelial membrane protein (62 - 578)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 579 a.a.
Protein Preferred Names Protein Names

carotenoid-cleaving dioxygenase, mitochondrial

  • b,b-carotene-9',10'-dioxygenase

Related Diseases

Diseases Alias
Microphthalmia, Syndromic 9
  • Matthew-Wood Syndrome

  • Spear Syndrome

  • Anophthalmia/Microphthalmia And Pulmonary Hypoplasia

  • Microphthalmia, Isolated, With Coloboma 8

  • MCOPS9

  • Anophthalmia, Clinical, With Mild Facial Dysmorphism And Variable Malformations Of The Lung, Heart, And Diaphragm

  • Pulmonary Hypoplasia-Diaphragmatic Hernia-Anophthalmia-Cardiac Defect

  • Pdac

  • Pulmonary Agenesis, Microphthalmia, And Diaphragmatic Defect

  • Pmd

  • Syndromic Microphthalmia 9

  • Anophthalmia-Pulmonary Hypoplasia Syndrome

  • Clinical Anophthalmia Mild Facial Dysmorphism Lung Heart And Diaphragm Malformations

  • Pulmonary Agenesis Microphthalmi And Diaphragmatic Defect

  • Microphthalmia Syndromic 9

  • Matthew Wood Syndrome

  • Pdac Syndrome

  • Pulmonary Hypoplasia-Diaphragmatic Hernia-Anophthalmia-Cardiac Defect Syndrome

  • Microphthalmia, Isolated, With Coloboma, 8

  • MCOPCB8

  • Isolated Colobomatous Microphthalmia 8

  • Microphthalmia, Syndromic, 9

  • Anophthalmia With Pulmonary Hypoplasia

  • Microphthalmia Syndromic, Type 9

  • Anophthalmia And Pulmonary Hypoplasia

Macular Degeneration, Age-Related, 1
  • Macular Degeneration

  • Age-Related Macular Degeneration

  • Macular Degeneration, Age-Related

  • Age Related Macular Degeneration

  • Age Related Macular Degeneration 1

  • ARMD1

  • Senile Macular Degeneration

  • Maculopathy, Age-Related, 1

  • Macular Degeneration, Age-Related, Reduced Risk Of

  • Age Related Maculopathy 1

  • Age Related Maculopathies

  • Age Related Maculopathy

  • Senile Macular Retinal Degeneration

  • Macular Degeneration Of Retina

  • Age-Related Maculopathy

  • Amd

  • Armd

  • Age-Related Maculopathy, Susceptibility To

  • Maculopathy Age-Related

  • Macular Degeneration, Age-Related, 1, Susceptibility To

  • Maculopathy, Age-Related

  • Macular Degeneration, Age-Related, Type 1

  • Macular Degeneration, Age-Related, 2

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Bos taurus BCO2 VGNC VGNC:26454
Felis catus BCO2 VGNC VGNC:60092
Macaca mulatta BCO2 VGNC VGNC:70097
Canis familiaris BCO2 VGNC VGNC:38418
Rattus norvegicus BCO2 RGD RGD:1309022
Mus musculus BCO2 MGD MGI:2177469
Others BCO2 NCBI