NDUFV2 (NADH:ubiquinone oxidoreductase core subunit V2)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 4729
Gene name NADH:ubiquinone oxidoreductase core subunit V2
Gene symbol NDUFV2
Synonyms (NCBI Gene)
CI-24kMC1DN7
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 information provided by dbSNP.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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SNP ID Visualize variation Clinical significance Consequence
rs752670374 GTAA>- Pathogenic Intron variant, splice donor variant
miRNA miRNA information provided by mirtarbase database.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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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
Transcription factors Transcription factors information provided by TRRUST V2 database.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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Transcription factor Regulation Reference
SP1 Activation 17786189
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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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
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
600532 7717 ENSG00000178127
Protein Protein information from UniProt database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  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 		  Respiratory electron transport
Complex I biogenesis
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Mitochondrial complex I deficiency, nuclear type 7 Likely pathogenic; Pathogenic rs754873418, rs1428682980, rs752670374 RCV005419177
RCV002283707
RCV000009622
Show/Hide Unknown Diseases (16)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cervical cancer Benign; Likely benign rs114558512 RCV005886722
Cholangiocarcinoma Benign rs977581 RCV005902230
Clear cell carcinoma of kidney Benign; Likely benign rs114558512 RCV005886723
Familial cancer of breast Benign rs759348789, rs977581 RCV005868080
RCV005902227
Show/Hide Text Mining Associations (21)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Alzheimer Disease Associate 21548921, 26125932, 40074652
Bipolar Disorder Stimulate 19135101
Bipolar Disorder Associate 20971673, 21190551, 21548921, 26241352
Brain Diseases Associate 21548921
Cardiomyopathies Associate 14729820
Cardiomyopathy Hypertrophic Associate 21548921
Depressive Disorder Stimulate 26241352
DiGeorge Syndrome Associate 34009292
Intervertebral disc disease Associate 36309697
Leukoencephalopathies Associate 33811136