NDUFV2 - NADH:ubiquinone oxidoreductase core subunit V2 Gene

Also Known as CI-24k; MC1DN7

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 4729

About 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.

Summary

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 Products (1)

mRNA Protein Name
NM_021074.5 NP_066552.2 NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial precursor
Molecular Function GO Annotation Evidence References Source
enables NADH dehydrogenase (ubiquinone) activity IDA
IDA: Inferred from direct assay
28844695 GOA
contributes to NADH dehydrogenase (ubiquinone) activity IMP
IMP: Inferred from mutant phenotype
12754703 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
28380382 GOA
Biological Process GO Annotation Evidence References Source
involved in cardiac muscle tissue development IMP
IMP: Inferred from mutant phenotype
12754703 GOA
involved in mitochondrial electron transport, NADH to ubiquinone IDA
IDA: Inferred from direct assay
28844695 GOA
involved in mitochondrial electron transport, NADH to ubiquinone IMP
IMP: Inferred from mutant phenotype
12754703 GOA
involved in nervous system development IMP
IMP: Inferred from mutant phenotype
9570948 GOA
Cellular Component GO Annotation Evidence References Source
located in mitochondrial inner membrane IDA
IDA: Inferred from direct assay
28844695 GOA
located in mitochondrion IDA
IDA: Inferred from direct assay
12754703 GOA
part of respiratory chain complex I IDA
IDA: Inferred from direct assay
12611891 GOA
part of respiratory chain complex I IMP
IMP: Inferred from mutant phenotype
12754703 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

NDUFV2 Protein Structure

2Fe-2S_thioredx

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

  • 0
  • 100
  • 200
  • 249 a.a.
Protein Preferred Names Protein Names

NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial

  • NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa

NDUFV2 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
NDUFV2 P19404 VPS26A Homo sapiens O75436 32814053
Intra
NDUFV2 P19404 VPS26A Homo sapiens O75436 32814053
Intra
NDUFV2 P19404 VPS26A Homo sapiens O75436 32814053
Intra
NDUFV2 P19404 FAM114A2 Homo sapiens Q9NRY5 32296183
Intra
NDUFV2 P19404 FAM114A2 Homo sapiens Q9NRY5 32296183
Intra
NDUFV2 P19404 FAM114A2 Homo sapiens Q9NRY5 32296183
Intra
NDUFV2 P19404 SORL1 Homo sapiens Q92673 32814053
Intra
NDUFV2 P19404 SORL1 Homo sapiens Q92673 32814053
Intra
NDUFV2 P19404 SORL1 Homo sapiens Q92673 32814053
Intra
NDUFV2 P19404 CCNC Homo sapiens P24863 33961781
Intra
NDUFV2 P19404 CCNC Homo sapiens P24863 32296183
Intra
NDUFV2 P19404 MAGEA2 Homo sapiens P43356 32814053
Intra
NDUFV2 P19404 MAGEA2 Homo sapiens P43356 32814053
Intra
NDUFV2 P19404 MAGEA2 Homo sapiens P43356 32814053
Intra
NDUFV2 P19404 EIF2S2 Homo sapiens P20042 32814053
Intra
NDUFV2 P19404 EIF2S2 Homo sapiens P20042 32814053
Intra
NDUFV2 P19404 EIF2S2 Homo sapiens P20042 32814053
Intra
NDUFV2 P19404 GOLM1 Homo sapiens Q8NBJ4 32296183
Intra
NDUFV2 P19404 METTL27 Homo sapiens Q8N6F8 32814053
Intra
NDUFV2 P19404 METTL27 Homo sapiens Q8N6F8 32814053
Intra
NDUFV2 P19404 METTL27 Homo sapiens Q8N6F8 32814053
Cross: Cross-species interaction Intra: Intraspecies interaction

NDUFV2 Antibodies

Cat. No. Product Name Application Reactivity
HY-P86984 NDUFV2 Antibody (YA6677) WB, IHC-P, ICC/IF Human, Mouse, Rat

Related Diseases

Diseases Alias
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

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 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
Others NDUFV2 NCBI