1. Gene
  2. UQCRC2 - ubiquinol-cytochrome c reductase core protein 2 Gene

UQCRC2 - ubiquinol-cytochrome c reductase core protein 2 Gene

中文名称:泛醇-细胞色素 c 还原酶核心蛋白 2

种属: Homo sapiens

同用名: QCR2; UQCR2; MC3DN5

基因 ID: 7385 | 基因类型: protein coding

关于 UQCRC2

Cytogenetic location: 16p12.2 Genomic coordinates (GRCh38): 16:21,953,361-21,983,660 (from NCBI)

This gene has 13 transcripts (splice variants), 241 orthologues, 6 paralogues and is associated with 2 phenotypes. Ubiquitous expression in heart (RPKM 179.2), duodenum (RPKM 111.5) and 25 other tissues.

功能概要

该基因编码的蛋白质位于线粒体中,是泛醇-细胞色素 c 还原酶复合物 (也称为复合物 III) 的一部分。该复合物构成线粒体呼吸链的一部分。该基因的缺陷是线粒体复合物 III 缺陷核 5 型的原因。[RefSeq 提供,2015 年 7 月]

The protein encoded by this gene is located in the mitochondrion, where it is part of the ubiquinol-cytochrome c reductase complex (also known as complex III). This complex constitutes a part of the mitochondrial respiratory chain. Defects in this gene are a cause of mitochondrial complex III deficiency nuclear type 5. [provided by RefSeq, Jul 2015]

UQCRC2 基因产物(1)

mRNA Protein Name
NM_003366.4 NP_003357.2 cytochrome b-c1 complex subunit 2, mitochondrial precursor
基因本体论
  • 分子功能
  • 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
21078624 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in mitochondrial inner membrane IDA
IDA: 通过直接分析推断
28844695 GOA
part of respiratory chain complex III IDA
IDA: 通过直接分析推断
23168492 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

UQCRC2 蛋白结构

Peptidase_M16

Peptidase_M16: Insulinase (Peptidase family M16) (49 - 194)

Peptidase_M16_C

Peptidase_M16_C: Peptidase M16 inactive domain (199 - 378)

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

cytochrome b-c1 complex subunit 2, mitochondrial

complex III subunit 2

UQCRC2 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
UQCRC2 P22695 LHX5 Homo sapiens Q9H2C1 32814053
种属内
UQCRC2 P22695 LHX5 Homo sapiens Q9H2C1 32814053
种属内
UQCRC2 P22695 LHX5 Homo sapiens Q9H2C1 32814053
种属内
UQCRC2 P22695 SNW1 Homo sapiens Q13573 32814053
种属内
UQCRC2 P22695 SNW1 Homo sapiens Q13573 32814053
种属内
UQCRC2 P22695 SNW1 Homo sapiens Q13573 32814053
种属内
UQCRC2 P22695 ACAP1 Homo sapiens Q15027 32814053
种属内
UQCRC2 P22695 ACAP1 Homo sapiens Q15027 32814053
种属内
UQCRC2 P22695 ACAP1 Homo sapiens Q15027 32814053
种属内
UQCRC2 P22695 CACNA1A Homo sapiens O00555
Y2H
21078624
种属间: 跨种属相互作用 种属内: 同种属相互作用

UQCRC2 抗体

目录号 产品名 应用 反应物种
HY-P82184 Complex III Subunit 2 Antibody (YA1929) WB, IHC-P, ICC/IF, IP, FC Human, Mouse, Rat

关联疾病

疾病名称 别名
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

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 Iii Deficiency

Complex 3 Mitochondrial Respiratory Chain Deficiency

Isolated Coq-Cytochrome C Reductase Deficiency

Ubiquinone-Cytochrome C Oxidoreductase Deficiency

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

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 Myopathy

Mitochondrial Myopathies

Mitochondrial Cytopathy

Myopathies In Mitochondrial Disorders

Leigh Syndrome

Leigh Disease

Infantile Subacute Necrotizing Encephalopathy

Leigh Syndrome Due To Mitochondrial Complex Iv Deficiency

LS

Sne

Leigh'S Disease

Leigh Syndrome Due To Mitochondrial Complex I Deficiency

Necrotizing Encephalopathy, Infantile Subacute, Of Leigh

Subacute Necrotizing Encephalomyelopathy

Necrotizing Encephalopathy Infantile Subacute Of Leigh

Leigh Syndrome Due To Mitochondrial Complex Iii Deficiency

Infantile Necrotizing Encephalomyelopathy

Juvenile Subacute Necrotizing Encephalomyelopathy

Leigh'S Necrotizing Encephalopathy

Subacute Necrotizing Encephalopathy

Juvenile Subacute Necrotizing Encephalopathy

Leigh Syndrome Due To Mitochondrial Complex Ii Deficiency

Leigh Syndrome Due To Mitochondrial Complex V Deficiency

Encephalopathy, Subacute Necrotizing, Infantile

Encephalopathy, Subacute Necrotizing, Juvenile

Maternally Inherited Leigh Syndrome

Subacute Necrotising Encephalomyelopathy

Subacute Necrotising Encephalopathy

Perrault Syndrome

Gonadal Dysgenesis, Xx Type, With Deafness

Ovarian Dysgenesis With Sensorineural Deafness

Gonadal Dysgenesis, Xx Type

Gonadal Dysgenesis With Auditory Dysfunction, Autosomal Recessive Inheritance

Gonadal Dysgenesis With Sensorineural Deafness, Autosomal Recessive Inheritance

Xx Gonodal Dysgenesis-Deafness Syndrome

Xx Gonodal Dysgenesis-Hearing Loss Syndrome

Gonadal Dysgenesis Xx Type Deafness

Mitochondrial Complex I Deficiency, Nuclear Type 1

Mitochondrial Complex I Deficiency

Nadh:Q(1) Oxidoreductase Deficiency

MC1DN1

Nadh-Coenzyme Q Reductase Deficiency

Isolated Mitochondrial Respiratory Chain Complex I Deficiency

Isolated Nadh-Coenzyme Q Reductase Deficiency

Isolated Nadh-Coq Reductase Deficiency

Isolated Nadh-Ubiquinone Reductase Deficiency

Mitochondrial Nadh Dehydrogenase Component Of Complex I, Deficiency Of

Nuclear Type Mitochondrial Complex I Deficiency 1

Isolated Complex I Deficiency

Complex 1 Mitochondrial Respiratory Chain Deficiency

Nadh Coenzyme Q Reductase Deficiency

Complex I Mitochondrial Respiratory Chain Deficiency

Deficiency Of Mitochondrial Nadh Dehydrogenase Component Of Complex I

Nadh:Ubiquinone Oxidoreductase Deficiency

Complex I, Mitochondrial Respiratory Chain, Deficiency Of

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
Bos taurus UQCRC2 VGNC VGNC:36696
Felis catus UQCRC2 VGNC VGNC:66849
Rattus norvegicus UQCRC2 RGD RGD:1359150
Canis familiaris UQCRC2 VGNC VGNC:48164
Mus musculus UQCRC2 MGD MGI:1914253