NDUFV2 (NADH:ubiquinone oxidoreductase core subunit V2)

Gene
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4729
Gene name Gene Name - the full gene name approved by the HGNC.
NADH:ubiquinone oxidoreductase core subunit V2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
NDUFV2
Synonyms (NCBI Gene) Gene synonyms aliases
CI-24k, MC1DN7
Chromosome Chromosome number
18
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
18p11.22
Summary Summary of gene provided in NCBI Entrez Gene.
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.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
SNP ID Visualize variation Clinical significance Consequence
rs752670374 GTAA>- Pathogenic Intron variant, splice donor variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(7)
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
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
Transcription factor Regulation Reference
SP1 Activation 17786189
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(35)
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
600532 7717 ENSG00000178127
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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
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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Mitochondrial Complex Deficiency Mitochondrial complex 1 deficiency, nuclear type 7 rs752670374 N/A
Show/Hide Unknown Diseases (5)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Leigh Syndrome Leigh syndrome N/A N/A GenCC
Leigh Syndrome With Leukodystrophy Leigh syndrome with leukodystrophy N/A N/A GenCC
Mitochondrial Diseases mitochondrial disease N/A N/A GenCC
Parkinson disease Parkinson disease, mitochondrial N/A N/A ClinVar
Show/Hide Text Mining Associations (21)
Associations from Text Mining Disease 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