1. Gene
  2. BCO2 - beta-carotene oxygenase 2 Gene

BCO2 - beta-carotene oxygenase 2 Gene

中文名称:β-胡萝卜素加氧酶 2

种属: Homo sapiens

同用名: BCDO2; B-DIOX-II

基因 ID: 83875 | 基因类型: protein coding

关于 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.

功能概要

该基因编码一种酶,该酶在维生素 A 的生物合成过程中氧化类胡萝卜素,例如 β-胡萝卜素。已发现该基因编码不同亚型的多个转录变体。[RefSeq 提供,2012 年 1 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in carotene catabolic process IDA
IDA: 通过直接分析推断
21302131 GOA
involved in carotene metabolic process IDA
IDA: 通过直接分析推断
11278918 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

BCO2 蛋白结构

RPE65

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

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 579 a.a.
蛋白主名 其他名称

carotenoid-cleaving dioxygenase, mitochondrial

b,b-carotene-9',10'-dioxygenase

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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