1. Gene
  2. UQCC2 - ubiquinol-cytochrome c reductase complex assembly factor 2 Gene

UQCC2 - ubiquinol-cytochrome c reductase complex assembly factor 2 Gene

中文名称:泛醇-细胞色素 c 还原酶复合物装配因子 2

种属: Homo sapiens

同用名: M19; Cbp6; MNF1; MC3DN7; C6orf125; C6orf126; bA6B20.2

基因 ID: 84300 | 基因类型: protein coding

关于 UQCC2

Cytogenetic location: 6p21.31 Genomic coordinates (GRCh38): 6:33,696,764-33,711,700 (from NCBI)

This gene has 4 transcripts (splice variants), 201 orthologues and is associated with 2 phenotypes. Ubiquitous expression in heart (RPKM 18.8), testis (RPKM 14.6) and 25 other tissues.

功能概要

该基因编码定位于线粒体内膜的类核蛋白。编码的蛋白质通过调节线粒体呼吸链活性影响胰岛素分泌、线粒体 ATP 产生和肌生成的调节。[RefSeq 提供,2012 年 10 月]

This gene encodes a nucleoid protein localized to the mitochondria inner membrane. The encoded protein affects regulation of Insulin secretion, mitochondrial ATP production, and myogenesis through modulation of mitochondrial respiratory chain activity. [provided by RefSeq, Oct 2012]

UQCC2 基因产物(1)

mRNA Protein Name
NM_032340.4 NP_115716.1 ubiquinol-cytochrome-c reductase complex assembly factor 2
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
24385928 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in mitochondrial respiratory chain complex III assembly IDA
IDA: 通过直接分析推断
24385928 GOA
involved in positive regulation of mitochondrial translation IDA
IDA: 通过直接分析推断
24385928 GOA
involved in regulation of oxidative phosphorylation IMP
IMP: 通过突变表型推断
22363741 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in mitochondrial nucleoid IDA
IDA: 通过直接分析推断
19643811 GOA
located in mitochondrion IDA
IDA: 通过直接分析推断
22363741 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
蛋白主名 其他名称

ubiquinol-cytochrome-c reductase complex assembly factor 2

breast cancer-associated protein SGA-81M

UQCC2 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
UQCC2 Q9BRT2 NRDE2 Homo sapiens Q9H7Z3 32296183
种属内
UQCC2 Q9BRT2 GNG13 Homo sapiens Q9P2W3 32296183
种属内
UQCC2 Q9BRT2 UQCC1 Homo sapiens Q9NVA1 33961781
种属内
UQCC2 Q9BRT2 MRFAP1 Homo sapiens Q9Y605 32296183
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Mitochondrial Complex Iii Deficiency, Nuclear Type 7

Mitochondrial Complex Iii Deficiency Nuclear Type 7

MC3DN7

Mitochondrial Complex Iii Deficiency, Nuclear 7

Isolated Complex Iii Deficiency

Isolated Coq-Cytochrome C Reductase Deficiency

Isolated Coenzyme Q-Cytochrome C Reductase Deficiency

Isolated Mitochondrial Respiratory Chain Complex Iii Deficiency

Isolated Ubiquinone-Cytochrome C Reductase Deficiency

Mitochondrial Complex Iv Deficiency, Nuclear Type 5

Leigh Syndrome, French Canadian Type

Mitochondrial Complex V Deficiency Nuclear Type 4

Cytochrome C Oxidase Deficiency, French Canadian Type

Lsfc

Cox Deficiency, French Canadian Type

MC5DN4

MC4DN5

Cox Deficiency, Saguenay-Lac-Saint-Jean Type

Leigh Syndrome, Saguenay-Lac-Saint-Jean Type

Mitochondrial Complex V Deficiency, Nuclear Type 4

French Canadian Leigh Disease

Leigh Syndrome, French-Canadian Type

Leigh Syndrome , French Canadian Type

Mitochondrial Complex V Deficiency, Atp5a1 Type

French Canadian Type Cox Deficiency

French Canadian Type Cytochrome C Oxidase Deficiency

French Canadian Type Leigh Syndrome

Saguenay Lac Saint Jean Type Cox Deficiency

Saguenay Lac Saint Jean Type Leigh Syndrome

Cox Deficiency, Saguenay Lac Saint Jean Type

Leigh Syndrome, Saguenay Lac Saint Jean Type

Mitochondrial Complex V Deficiency, Nuclear Type 4

Mitochondrial Complex V Deficiency Atp5a1 Type

Mitochondrial Complex V Deficiency Type 4

Mitochondrial Complex V Deficiency, Nuclear, Type 4

Mitochondrial Dna Depletion Syndrome 8a

Mitochondrial Dna Depletion Syndrome 8b

MTDPS8A

Rrm2b-Related Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Renal Tubulopathy

Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Renal Tubulopathy

Mtdna Depletion Syndrome, Encephalomyopathic Form With Renal Tubulopathy

Mitochondrial Dna Depletion Syndrome, Encephalomyopathic, With Renal Tubulopathy, Autosomal Recessive

Mitochondrial Neurogastrointestinal Encephalopathy Syndrome, Rrm2b-Related

Rrm2b-Related Mitochondrial Dna Depletion Syndrome

Encephalomyopathic Type With Renal Tubulopathy

Rrm2b-Mds

Encephalomyopathic Mitochondrial Depletion Syndrome With Renal Tubulopathy

Mitochondrial Dna Depletion Syndrome 8a Encephalomyopathic Type With Renal Tubulopathy

Mitochondrial Dna Depletion Syndrome Encephalomyopathic With Renal Tubulopathy Autosomal Recessive

MTDPS8B

Mitochondrial Dna Depletion Syndrome 8b Mngie Type

Mitochondrial Neurogastrointestinal Encephalopathy Syndrome Rrm2b-Related

Mngie Rrm2b-Related

Visceral Myopathy Familial External Ophthalmoplegia

Mitochondrial Dna Depletion Syndrome, Type 8a

Mitochondrial Complex Iii Deficiency

Complex 3 Mitochondrial Respiratory Chain Deficiency

Isolated Coq-Cytochrome C Reductase Deficiency

Ubiquinone-Cytochrome C Oxidoreductase Deficiency

Mitochondrial Dna Depletion Syndrome 14

MTDPS14

Mitochondrial Dna Depletion Syndrome 14, Cardioencephalomyopathic Type

Mitochondrial Dna Depletion Syndrome, Type 14

Mitochondrial Dna Depletion Syndrome 11

MTDPS11

Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome

Mitochondrial Dna Maintenance Syndrome Due To Mgme1 Deficiency

Peo-Myopathy-Emaciation Syndrome

Mtdna Maintenance Syndrome Due To Mgme1 Deficiency

Mitochondrial Dna Depletion Syndrome, Type 11

Combined Oxidative Phosphorylation Deficiency 22

COXPD22

Oxidative Phosphorylation Deficiency, Combined, Type 22

Mitochondrial Complex V Deficiency, Mitochondrial Type 1

MC5DM1

Mitochondrial Complex V Deficiency Mitochondrial Type 1

Mitochondrial Complex V Deficiency, Mitochondrial 1

Adult-Onset Ataxia And Polyneuropathy

Infantile Hypertrophic Cardiomyopathy

Mitochondrial Complex 5 Deficiency, Mitochondrial Type 1

Chronic Wasting Disease

Wasting Disease, Chronic

Thoracic Outlet Syndrome

Tos

Tos - Thoracic Outlet Syndrome

Thoracic Outlet Syndromes

Thoracic Outlet Compression Syndrome

Mitochondrial Dna Depletion Syndrome 1

MTDPS1

Mitochondrial Neurogastrointestinal Encephalopathy Syndrome, Tymp-Related

Myoneurogastrointestinal Encephalopathy Syndrome

Polip Syndrome

Mitochondrial Dna Depletion Syndrome, Type 1

Mngie, Tymp-Related

Polyneuropathy, Ophthalmoplegia, Leukoencephalopathy, And Intestinal Pseudoobstruction

Mitochondrial Dna Depletion Syndrome 1, Mngie Type

Mitochondrial Neurogastrointestinal Encephalomyopathy

Mitochondrial Neurogastrointestinal Encephalopathy Syndrome Tymp-Related

Myoneurogastrointestinal Encephalomyopathy

Polyneuropathy Ophthalmoplegia Leukoencephalopathy And Intestinal Pseudoobstruction

Mitochondrial Neurogastrointestinal Encephalopathy Syndrome

Gracile Syndrome

Finnish Lethal Neonatal Metabolic Syndrome

Growth Retardation, Amino Aciduria, Cholestasis, Iron Overload, Lactic Acidosis, And Early Death

Flnms

Fellman Syndrome

Fellman Disease

Finnish Lactic Acidosis With Hepatic Hemosiderosis

Growth Restriction-Aminoaciduria-Cholestasis-Iron Overload-Lactic Acidosis-Early Death Syndrome

Growth Delay-Aminoaciduria-Cholestasis-Iron Overload-Lactic Acidosis-Early Death Syndrome

Lactic Acidosis, Finnish, With Hepatic Hemosiderosis

Growth Retardation, Aminoaciduria, Cholestasis, Iron Overload, Lactic Acidosis And Early Death

GRACILE

Lactic Acidosis

Acidosis, Lactic

Acidosis Lactic

Tinea Favosa

Favus

3-Methylglutaconic Aciduria, Type I

3-Methylglutaconyl-Coa Hydratase Deficiency

3-Methylglutaconic Aciduria Type 1

Mga1

MGCA1

3mg-Coa Hydratase Deficiency

Mga Type I

Mga, Type I

3-Mg-Coa-Hydratase Deficiency

3 Methylglutaconyl Coa Hydratase Deficiency

3-Methylglutaconic Aciduria Type I

3 Alpha Methylglutaconic Aciduria Type I

3 Methylglutaconic Aciduria Type 1

3-Mgca Type I

3mg Coa Hydratase Deficiency

Auh Defect

Primary 3-Methylglutaconic Aciduria

3-Methylglutaconic Aciduria 1

3-Alpha-Methylglutaconic Aciduria Type 1

3-Alpha-Methylglutaconyl-Coa Hydratase Deficiency

3-@Methylglutaconic Aciduria, Type I

Megaloblastic Anemia Due To Inborn Errors Of Metabolism

Spondylolysis

Acquired Spondylolysis

Mitochondrial Complex V Deficiency, Nuclear Type 3

Mitochondrial Complex Iii Deficiency Nuclear Type 5

MC5DN3

Mitochondrial Complex Iii Deficiency, Nuclear Type 5

Mitochondrial Complex V Deficiency Nuclear Type 3

MC3DN5

Mitochondrial Complex V Deficiency, Atp5e Type

Mitochondrial Complex Iii Deficiency, Nuclear 5

Mitochondrial Complex V Deficiency, Nuclear Type 3

Mitochondrial Complex V Deficiency Atp5e Type

Mitochondrial Complex V Deficiency Type 3

Mitochondrial Complex V Deficiency, Nuclear, Type 3

Sensorineural Hearing Loss

Sensory Hearing Loss

Sensorineural Deafness

Sensorineural Hearing Loss Disorder

Hearing Loss, Sensorineural

Central Hearing Loss

High Frequency Deafness

High Frequency Hearing Loss

High-Frequency Hearing Loss

Perceptive Deafness

Perceptive Hearing Loss

Perceptive Hearing Loss Or Deafness

Hearing Loss Sensorineural

Deafness Sensorineural

Hearing Loss High-Frequency

Hearing Loss, Central

Hearing Loss, High-Frequency

Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes

Melas Syndrome

MELAS

Mitochondrial Encephalomyopathy Lactic Acidosis And Stroke-Like Episodes

Mitochondrial Myopathy, Lactic Acidosis, Stroke-Like Episode

Mitochondrial Encephalomyopathy, Lactic Acidosis, And Stroke-Like Episodes

Myopathy, Mitochondrial-Encephalopathy-Lactic Acidosis-Stroke

Mitochondrial Encephalomyopathy, Lactic Acidosis And Stroke-Like Episodes

Mitochondrial Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes

Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis And Stroke-Like Episodes

Mitochondrial Encephalomyopathy With Lactic Acidosis And Stroke-Like Episodes Syndrome

Myopathy, Mitochondrial, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes

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
Rattus norvegicus UQCC2 RGD RGD:1306917
Macaca mulatta UQCC2 VGNC VGNC:83964
Bos taurus UQCC2 VGNC VGNC:107295
Canis familiaris UQCC2 VGNC VGNC:48160
Mus musculus UQCC2 MGD MGI:1914517
Felis catus UQCC2 VGNC VGNC:102544