1. Gene
  2. NDUFV2 - NADH:ubiquinone oxidoreductase core subunit V2 Gene

NDUFV2 - NADH:ubiquinone oxidoreductase core subunit V2 Gene

中文名称:NADH:泛醌氧化还原酶核心亚基 V2

种属: Homo sapiens

同用名: CI-24k; MC1DN7

基因 ID: 4729 | 基因类型: protein coding

关于 NDUFV2

Cytogenetic location: 18p11.22 Genomic coordinates (GRCh38): 18:9,102,699-9,134,341 (from NCBI)

This gene has 9 transcripts (splice variants), 238 orthologues and is associated with 4 phenotypes. Ubiquitous expression in heart (RPKM 60.6), liver (RPKM 55.1) and 25 other tissues.

功能概要

线粒体呼吸链的 NADH-泛醌氧化还原酶复合物 (复合物 I) 催化电子从 NADH 转移到泛醌,由至少 43 个亚基组成。该复合体位于线粒体内膜。该基因编码复合物 I 的 24 kDa 亚基,并参与电子转移。该基因的突变与帕金森病、双相情感障碍、精神分裂症有关,并且已在一例早发性肥厚性心肌病和脑病中被发现。在 19 号染色体上发现了该基因座的非转录假基因。[RefSeq 提供,2009 年 10 月]

The NADH-ubiquinone oxidoreductase complex (complex I) of the mitochondrial respiratory chain catalyzes the transfer of electrons from NADH to ubiquinone, and consists of at least 43 subunits. The complex is located in the inner mitochondrial membrane. This gene encodes the 24 kDa subunit of complex I, and is involved in electron transfer. Mutations in this gene are implicated in Parkinson's disease, bipolar disorder, schizophrenia, and have been found in one case of early onset hypertrophic cardiomyopathy and encephalopathy. A non-transcribed pseudogene of this locus is found on chromosome 19. [provided by RefSeq, Oct 2009]

NDUFV2 基因产物(1)

mRNA Protein Name
NM_021074.5 NP_066552.2 NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial precursor
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 NADH dehydrogenase (ubiquinone) activity IDA
IDA: 通过直接分析推断
28844695 GOA
contributes to NADH dehydrogenase (ubiquinone) activity IMP
IMP: 通过突变表型推断
12754703 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
28380382 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cardiac muscle tissue development IMP
IMP: 通过突变表型推断
12754703 GOA
involved in mitochondrial electron transport, NADH to ubiquinone IDA
IDA: 通过直接分析推断
28844695 GOA
involved in mitochondrial electron transport, NADH to ubiquinone IMP
IMP: 通过突变表型推断
12754703 GOA
involved in nervous system development IMP
IMP: 通过突变表型推断
9570948 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
located in mitochondrion IDA
IDA: 通过直接分析推断
12754703 GOA
part of respiratory chain complex I IDA
IDA: 通过直接分析推断
12611891 GOA
part of respiratory chain complex I IMP
IMP: 通过突变表型推断
12754703 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

NDUFV2 蛋白结构

2Fe-2S_thioredx

2Fe-2S_thioredx: Thioredoxin-like [2Fe-2S] ferredoxin (63 - 209)

  • 0
  • 100
  • 200
  • 249 a.a.
蛋白主名 其他名称

NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial

NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa

NDUFV2 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
NDUFV2 P19404 VPS26A Homo sapiens O75436
Validated Y2H
32814053
种属内
NDUFV2 P19404 VPS26A Homo sapiens O75436
Y2H Array
32814053
种属内
NDUFV2 P19404 VPS26A Homo sapiens O75436
Y2H Pooling
32814053
种属内
NDUFV2 P19404 FAM114A2 Homo sapiens Q9NRY5
Y2H Array
32296183
种属内
NDUFV2 P19404 FAM114A2 Homo sapiens Q9NRY5
Y2H Prey Pooling
32296183
种属内
NDUFV2 P19404 FAM114A2 Homo sapiens Q9NRY5
Validated Y2H
32296183
种属内
NDUFV2 P19404 SORL1 Homo sapiens Q92673
Y2H Pooling
32814053
种属内
NDUFV2 P19404 SORL1 Homo sapiens Q92673
Validated Y2H
32814053
种属内
NDUFV2 P19404 SORL1 Homo sapiens Q92673
Y2H Array
32814053
种属内
NDUFV2 P19404 CCNC Homo sapiens P24863
Anti Tag CoIP
33961781
种属内
NDUFV2 P19404 CCNC Homo sapiens P24863
Validated Y2H
32296183
种属内
NDUFV2 P19404 MAGEA2 Homo sapiens P43356
Validated Y2H
32814053
种属内
NDUFV2 P19404 MAGEA2 Homo sapiens P43356
Y2H Array
32814053
种属内
NDUFV2 P19404 MAGEA2 Homo sapiens P43356
Y2H Pooling
32814053
种属内
NDUFV2 P19404 EIF2S2 Homo sapiens P20042
Y2H Pooling
32814053
种属内
NDUFV2 P19404 EIF2S2 Homo sapiens P20042
Validated Y2H
32814053
种属内
NDUFV2 P19404 EIF2S2 Homo sapiens P20042
Y2H Array
32814053
种属内
NDUFV2 P19404 GOLM1 Homo sapiens Q8NBJ4
Validated Y2H
32296183
种属内
NDUFV2 P19404 METTL27 Homo sapiens Q8N6F8
Validated Y2H
32814053
种属内
NDUFV2 P19404 METTL27 Homo sapiens Q8N6F8
Y2H Pooling
32814053
种属内
NDUFV2 P19404 METTL27 Homo sapiens Q8N6F8
Y2H Array
32814053
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 I Deficiency, Nuclear Type 7

MC1DN7

Mitochondrial Complex 1 Deficiency, Nuclear Type 7

Nuclear Type Mitochondrial Complex I Deficiency 7

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

Leigh Syndrome With Leukodystrophy

Infantile Subacute Necrotizing Encephalopathy With Leukodystrophy

Leigh Disease With Leukodystrophy

Encephalopathy

Brain Diseases

Encephalopathies

Toxic Encephalopathy

Toxic Brain Fever

Toxic Brain Inflammation

Toxic Brain Stem Inflammation

Toxic Cerebral Fever

Toxic Cerebrospinal Fever

Toxic Cerebrospinal Inflammation

Encephalopathy Nec

Encephalopathy Nos

Encephalopathy Disease

Encephalopathy Syndrome

Bipolar Disorder

Bipolar Depression

Manic Disorder

Depression, Bipolar

Bipolar Disorder Manic Phase

Depressive-Manic Psych.

Manic Bipolar Affective Disorder

Manic Bipolar I Disorder

Manic Depression

Manic Depressive Disorder

Mixed Bipolar Disorder

Bipolar Affective Disorder

Bipolar Affective Psychosis

Bipolar Spectrum Disorder

Manic Depressive Illness

Depression Bipolar

Bipolar Disorder, Mixed

Major Affective Disorder

Major Affective Disorder 1

Major Affective Disorder 2

Hypertrophic Cardiomyopathy

Hypertrophic Obstructive Cardiomyopathy

Cardiomyopathy, Hypertrophic

Cardiomyopathy Hypertrophic Obstructive

Cardiomyopathy, Hypertrophic, Familial

Idiopathic Myocardial Hypertrophy

Idiopathic Hypertrophic Cardiomyopathy

Obstructive Idiopathic Hypertrophic Cardiomyopathy

Obstructive Cardiomyopathy

Idiopathic Hypertrophic Subaortic Stenosis

Muscular Subaortic Stenosis

Hypertrophic Obstructive Subaortic Stenosis

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

Schizophrenia

SCZD

Schizophrenia With Or Without An Affective Disorder

Schizophrenia 12

Schizophrenia, Susceptibility To

Schizophrenia-1

Dementia Praecox

Schizophrenia 1

Leukodystrophy

Leukodystrophies

Brown-Vialetto-Van Laere Syndrome
3-Methylglutaconic Aciduria, Type Iii

Optic Atrophy

3-Methylglutaconic Aciduria Type 3

Costeff Syndrome

Mga3

Costeff Optic Atrophy Syndrome

Optic Atrophy Plus Syndrome

Infantile Optic Atrophy With Chorea And Spastic Paraplegia

3-Methylglutaconic Aciduria Type Iii

Autosomal Recessive Optic Atrophy Plus Syndrome

Autosomal Recessive Optic Atrophy Type 3

Opa3 Defect

MGCA3

Mga, Type Iii

Iraqi Jewish Optic Atrophy Plus

Mga Type Iii

Optic Atrophy, Infantile, With Chorea And Spastic Paraplegia

Iraqi-Jewish 'Optic Atrophy Plus'

Optic Atrophy 3, Autosomal Recessive

Opa3, Autosomal Recessive

Opa3-Related 3-Methylglutaconic Aciduria

Iraqi-Jewish Optic Atrophy Plus

Atrophy Of Optic Disc

3-Alpha Methylglutaconic Aciduria Type Iii

Optic Atrophy 3

Optic Atrophy Infantile With Chorea And Spastic Paraplegia

Autosomal Recessive Opa3

Autosomal Recessive Optic Atrophy 3

3-Methylglutaconic Aciduria 3

3-Alpha-Methylglutaconic Aciduria Type 3

Optic Atrophy 3 Autosomal Recessive

Atrophy, Optic

Atrophy, Optic, Plus Syndrome

Optic Nerve Atrophy

Primary Optic Atrophy

Oa - [Optic Atrophy]

Second Cranial Nerve Atrophy

Second Cranium Nerve Atrophy

Leber Hereditary Optic Neuropathy, Modifier Of

Leber Optic Atrophy

Leber Hereditary Optic Neuropathy

LHON

Leber'S Hereditary Optic Neuropathy

Leber Optic Atrophy, Susceptibility To

Leber'S Optic Atrophy

LOAM

Loas

Leber'S Disease

Leber'S Optic Neuropathy

Optic Atrophy, Hereditary, Leber

Lhon, Modifier Of

Optic Atrophy, Leber Type

Hereditary Optic Neuroretinopathy

Leber Hereditary Optic Atrophy

Loa

Optic Atrophy Leber Type

Leber Hereditary Optic Neuropathy, Modifier

Leber Hereditary Optic Neuropathy Susceptibility

Modifier Of Leber Hereditary Optic Neuropathy

Lebers Hereditary Optic Neuropathy

Leber Congenital Amaurosis

Myopathy

Muscular Diseases

Myopathies

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 NDUFV2 VGNC VGNC:31975
Felis catus NDUFV2 VGNC VGNC:80459
Rattus norvegicus NDUFV2 RGD RGD:621733
Mus musculus NDUFV2 MGD MGI:1920150
Canis familiaris NDUFV2 VGNC VGNC:53624