NDUFV2 - NADH:ubiquinone oxidoreductase core subunit V2 Gene

Homo sapiens

Also known as CI-24k; MC1DN7

Gene ID: 4729 | Gene type: protein coding

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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	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	Reference	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	Reference	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

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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	NDUFV2	P19404	VPS26A	Homo sapiens	O75436	Validated Y2H	32814053
Intra	NDUFV2	P19404	VPS26A	Homo sapiens	O75436	Y2H Array	32814053
Intra	NDUFV2	P19404	VPS26A	Homo sapiens	O75436	Y2H Pooling	32814053
Intra	NDUFV2	P19404	FAM114A2	Homo sapiens	Q9NRY5	Y2H Array	32296183
Intra	NDUFV2	P19404	FAM114A2	Homo sapiens	Q9NRY5	Y2H Prey Pooling	32296183
Intra	NDUFV2	P19404	FAM114A2	Homo sapiens	Q9NRY5	Validated Y2H	32296183
Intra	NDUFV2	P19404	SORL1	Homo sapiens	Q92673	Y2H Pooling	32814053
Intra	NDUFV2	P19404	SORL1	Homo sapiens	Q92673	Validated Y2H	32814053
Intra	NDUFV2	P19404	SORL1	Homo sapiens	Q92673	Y2H Array	32814053
Intra	NDUFV2	P19404	CCNC	Homo sapiens	P24863	Anti Tag CoIP	33961781
Intra	NDUFV2	P19404	CCNC	Homo sapiens	P24863	Validated Y2H	32296183
Intra	NDUFV2	P19404	MAGEA2	Homo sapiens	P43356	Validated Y2H	32814053
Intra	NDUFV2	P19404	MAGEA2	Homo sapiens	P43356	Y2H Array	32814053
Intra	NDUFV2	P19404	MAGEA2	Homo sapiens	P43356	Y2H Pooling	32814053
Intra	NDUFV2	P19404	EIF2S2	Homo sapiens	P20042	Y2H Pooling	32814053
Intra	NDUFV2	P19404	EIF2S2	Homo sapiens	P20042	Validated Y2H	32814053
Intra	NDUFV2	P19404	EIF2S2	Homo sapiens	P20042	Y2H Array	32814053
Intra	NDUFV2	P19404	GOLM1	Homo sapiens	Q8NBJ4	Validated Y2H	32296183
Intra	NDUFV2	P19404	METTL27	Homo sapiens	Q8N6F8	Validated Y2H	32814053
Intra	NDUFV2	P19404	METTL27	Homo sapiens	Q8N6F8	Y2H Pooling	32814053
Intra	NDUFV2	P19404	METTL27	Homo sapiens	Q8N6F8	Y2H Array	32814053

Cross: Cross-species interaction Intra: Intraspecies interaction

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS09166	NDUFV2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

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

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