NDUFV2 (NADH:ubiquinone oxidoreductase core subunit V2)

Gene

• Entrez ID: 4729
• Gene name: NADH:ubiquinone oxidoreductase core subunit V2
• Gene symbol: NDUFV2
• Synonyms (NCBI Gene): CI-24k, MC1DN7
• Chromosome: 18
• Chromosome location: 18p11.22
• 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. Th

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs752670374	GTAA>-	Pathogenic	Intron variant, splice donor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1179241	hsa-miR-1251	CLIP-seq
MIRT1179242	hsa-miR-1277	CLIP-seq
MIRT1179243	hsa-miR-4684-5p	CLIP-seq
MIRT1179244	hsa-miR-4699-3p	CLIP-seq
MIRT1179245	hsa-miR-4768-5p	CLIP-seq
MIRT1179246	hsa-miR-582-5p	CLIP-seq
MIRT1179244	hsa-miR-4699-3p	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
SP1	Activation	17786189

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003954	Function	NADH dehydrogenase activity	IBA
GO:0005515	Function	Protein binding	IPI	28380382, 32296183, 32814053, 33961781
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA	12754703
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	IDA	28844695
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	TAS
GO:0006120	Process	Mitochondrial electron transport, NADH to ubiquinone	IBA
GO:0006120	Process	Mitochondrial electron transport, NADH to ubiquinone	IDA	28844695
GO:0006120	Process	Mitochondrial electron transport, NADH to ubiquinone	IEA
GO:0006120	Process	Mitochondrial electron transport, NADH to ubiquinone	IMP	12754703
GO:0006120	Process	Mitochondrial electron transport, NADH to ubiquinone	NAS	9570948, 9878551
GO:0007399	Process	Nervous system development	IMP	9570948
GO:0008137	Function	NADH dehydrogenase (ubiquinone) activity	IDA	28844695
GO:0008137	Function	NADH dehydrogenase (ubiquinone) activity	IEA
GO:0008137	Function	NADH dehydrogenase (ubiquinone) activity	IMP	12754703
GO:0008137	Function	NADH dehydrogenase (ubiquinone) activity	NAS	9570948, 9878551
GO:0009055	Function	Electron transfer activity	NAS	7488192
GO:0009060	Process	Aerobic respiration	NAS	30030361
GO:0016020	Component	Membrane	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0042776	Process	Proton motive force-driven mitochondrial ATP synthesis	NAS	30030361
GO:0045271	Component	Respiratory chain complex I	IBA
GO:0045271	Component	Respiratory chain complex I	IDA	12611891, 28844695
GO:0045271	Component	Respiratory chain complex I	IEA
GO:0045271	Component	Respiratory chain complex I	IMP	12754703
GO:0045271	Component	Respiratory chain complex I	NAS	9878551
GO:0046872	Function	Metal ion binding	IEA
GO:0048738	Process	Cardiac muscle tissue development	IMP	12754703
GO:0051536	Function	Iron-sulfur cluster binding	IEA
GO:0051537	Function	2 iron, 2 sulfur cluster binding	IEA
GO:1902600	Process	Proton transmembrane transport	IEA

Other IDs

• MIM: 600532
• HGNC: 7717
• e!Ensembl: ENSG00000178127

Protein

• UniProt ID: P19404
• Protein name: NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial (NDUFV2) (EC 7.1.1.2) (NADH-ubiquinone oxidoreductase 24 kDa subunit)
• Protein function: Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) which catalyzes electron transfer from NADH through the respiratory chain, using ubiquinone as an electron acceptor (Probable). Parts of the peripheral a
• PDB: 5XTB, 5XTD, 5XTH, 5XTI
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01257	2Fe-2S_thioredx	63 → 209		Family

• Sequence:

  MFFSAALRARAAGLTAHWGRHVRNLHKTVMQNGAGGALFVHRDTPENNPDTPFDFTPENY
  KRIEAIVKNYPEGHKAAAVLPVLDLAQRQNGWLPISAMNKVAEVLQVPPMRVYEVATFYT
  MYNRKPVGKYHIQVCTTTPCMLRNSDSILEAIQKKLGIKVGETTPDKLFTLIEVECLGAC
  VNAPMVQINDNYYEDLTAKDIEEIIDELKAGKIPKPGPRSGRFSCEPAGGLTSLTEPPKG
  PGFGVQAGL

• Sequence length: 249

Pathways

KEGG:

Oxidative phosphorylation
Metabolic pathways
Thermogenesis
Retrograde endocannabinoid signaling
Non-alcoholic fatty liver disease
Alzheimer disease
Parkinson disease
Amyotrophic lateral sclerosis
Huntington disease
Prion disease
Pathways of neurodegeneration - multiple diseases
Chemical carcinogenesis - reactive oxygen species
Diabetic cardiomyopathy

Reactome:

Respiratory electron transport
Complex I biogenesis

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Mitochondrial complex I deficiency, nuclear type 7	Likely pathogenic; Pathogenic	rs754873418, rs1428682980, rs752670374	RCV005419177 RCV002283707 RCV000009622	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
BIPOLAR DISORDER	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR I DISORDER, MOST RECENT EPISODE MANIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHIES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSION, BIPOLAR	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESSENTIAL TREMOR	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEIGH SYNDROME	—	CTD, ClinGen	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEIGH SYNDROME WITH LEUKODYSTROPHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial complex I deficiency	Uncertain significance; Benign; Likely benign	ClinVar Disgenet, GWAS catalog Disgenet, GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Mitochondrial complex I deficiency, nuclear type 1	Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASE	—	ClinGen, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL ENCEPHALOMYOPATHIES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIXED BIPOLAR I DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NDUFV2-related disorder	Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson disease, mitochondrial	Benign	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
PRIMARY CARDIOMYOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UNIPOLAR DEPRESSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alzheimer Disease	Alzheimer disease	Pubtator	21548921, 26125932, 40074652	Associate	★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	12815743, 15450783, 15762855, 16508936, 18199248, 19135101, 19194776, 21190551, 26093828		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	LHGDN	12815743, 15450783, 18199248		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	PSYGENET_DG	18989376, 19135101, 19194776, 20971673, 21190551		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	CTD_human_DG	19135101		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar disorder	Pubtator	19135101	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar disorder	Pubtator	20971673, 21190551, 21548921, 26241352	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar I disorder	Bipolar Disorder	BEFREE	12815743, 19135101		★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brain atrophy	Brain atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	21548921	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	12754703		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	CTD_human_DG	14729820		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	Pubtator	14729820	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies, Primary	Cardiomyopathy	CTD_human_DG	14729820		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	21548921	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Depression, Bipolar	Bipolar Disorder	CTD_human_DG	19135101		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive Disorder	Major depressive disorder	Pubtator	26241352	Stimulate	★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	HPO_DG			★☆☆☆☆ Found in Text Mining only
DiGeorge Syndrome	Digeorge syndrome	Pubtator	34009292	Associate	★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	12754703, 21548921		★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertrichosis	HYPERTRICHOSIS	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	12754703, 21548921		★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	LHGDN	12754703		★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertrophic obstructive cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	12754703, 21548921		★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intervertebral disc disease	Intervertebral disc disease	Pubtator	36309697	Associate	★☆☆☆☆ Found in Text Mining only
Isolated complex I deficiency	Isolated Complex I Deficiency	Orphanet			★☆☆☆☆ Found in Text Mining only
Leigh Disease	Leigh Syndrome	BEFREE	26008862		★☆☆☆☆ Found in Text Mining only
Leigh Disease	Leigh Syndrome	CLINGEN_DG	26008862, 27509854		★☆☆☆☆ Found in Text Mining only
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY	Leigh Syndrome	CLINGEN_DG	26008862, 27509854		★☆☆☆☆ Found in Text Mining only
Leigh Syndrome Due To Mitochondrial Complex II Deficiency	Leigh Syndrome	CLINGEN_DG	26008862, 27509854		★☆☆☆☆ Found in Text Mining only
Leigh Syndrome due to Mitochondrial Complex III Deficiency	Leigh Syndrome	CLINGEN_DG	26008862, 27509854		★☆☆☆☆ Found in Text Mining only
Leigh Syndrome due to Mitochondrial Complex IV Deficiency	Leigh Syndrome	CLINGEN_DG	26008862, 27509854		★☆☆☆☆ Found in Text Mining only
Leigh Syndrome due to Mitochondrial Complex V Deficiency	Leigh Syndrome	CLINGEN_DG	26008862, 27509854		★☆☆☆☆ Found in Text Mining only
Leigh syndrome with leukodystrophy	Leigh Syndrome With Leukodystrophy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leukodystrophy	Leukodystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leukoencephalopathy	Leukoencephalopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	PSYGENET_DG	18989376		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Major Depressive Disorder	Mental Depression	BEFREE	26544616		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Manic	Manic Disorder	CTD_human_DG	19135101		★☆☆☆☆ Found in Text Mining only
Manic Disorder	Manic Disorder	CTD_human_DG	19135101		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
MITOCHONDRIAL COMPLEX I DEFICIENCY	Mitochondrial Complex Deficiency	ORPHANET_DG	12754703, 22644603, 26008862		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MITOCHONDRIAL COMPLEX I DEFICIENCY	Mitochondrial Complex Deficiency	GENOMICS_ENGLAND_DG	27604308		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Mitochondrial complex I deficiency	Mitochondrial complex deficiency	Pubtator	33811136	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 7	Mitochondrial Complex Deficiency	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 7	Mitochondrial Complex Deficiency	GENOMICS_ENGLAND_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mitochondrial Encephalomyopathies	Mitochondrial encephalomyopathy	CTD_human_DG	14729820		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Encephalomyopathies	Mitochondrial encephalomyopathy	Pubtator	14729820	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Myopathies	Mitochondrial myopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mood swings	Mood swings	HPO_DG			★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease	Motor neuron disease	Pubtator	20971673	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Diseases, Secondary	Myocardial Diseases	CTD_human_DG	14729820		★☆☆☆☆ Found in Text Mining only
Necrotizing encephalopathy, infantile subacute, of Leigh	Necrotizing encephalomyelopathy	CLINGEN_DG	26008862, 27509854		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	17786189		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Optic Atrophy 1	Optic Atrophy	BEFREE	31524603		★☆☆☆☆ Found in Text Mining only
Ovarian Diseases	Ovarian diseases	Pubtator	39754905	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	16784756, 20971673, 9570948		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	Pubtator	16784756, 20971673, 21548921, 26889637	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease Secondary	Secondary parkinson disease	Pubtator	20971673	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Progressive cerebellar ataxia	Cerebellar Ataxia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	34124242	Associate	★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	HPO_DG			★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	16508936, 17786189, 19135101, 20971673, 21190551, 26544616, 30531937		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	17786189, 20971673, 21190551, 21548921, 34009292	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	LHGDN	19034380, 19165527		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	CTD_human_DG	19135101		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	19135101	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	PSYGENET_DG	18989376		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Unipolar Depression	Mental Depression	BEFREE	26544616		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★☆☆☆☆ Found in Text Mining only