Version 5.4
Homo sapiens Gene: NDUFV2
Summary
InnateDB Gene IDBG-711.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol NDUFV2
Gene Name NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa
Synonyms CI-24k
Species Homo sapiens
Ensembl Gene ENSG00000178127
Encoded Proteins
IDBP-713
NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa
IDBP-229197
NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa
IDBP-727055
IDBP-727365
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 18:9102630-9134345
Strand Forward strand
Band p11.22
Transcripts
ENST00000318388 ENSP00000327268
ENST00000400033 ENSP00000382908
ENST00000497577 ENSP00000464504
ENST00000474350
ENST00000483511
ENST00000465096
ENST00000474740
ENST00000577703 ENSP00000461911
ENST00000583375
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 30 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 30 [view]
Protein-Protein 30 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0008137 NADH dehydrogenase (ubiquinone) activity
GO:0009055 electron carrier activity
GO:0016491 oxidoreductase activity
GO:0046872 metal ion binding
GO:0051537 2 iron, 2 sulfur cluster binding
Biological Process
GO:0006120 mitochondrial electron transport, NADH to ubiquinone
GO:0007399 nervous system development
GO:0022904 respiratory electron transport chain
GO:0044237 cellular metabolic process
GO:0044281 small molecule metabolic process
GO:0048738 cardiac muscle tissue development
GO:0055114 oxidation-reduction process
Cellular Component
GO:0005739 mitochondrion
GO:0005743 mitochondrial inner membrane
GO:0005747 mitochondrial respiratory chain complex I
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000024099
View Gene Order
ENSBTAG00000004871
Not yet available
Pathways
NETPATH
REACTOME
REACT_22393
Respiratory electron transport pathway
REACT_6305
Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. pathway
REACT_111083
The citric acid (TCA) cycle and respiratory electron transport pathway
REACT_111217
Metabolism pathway
KEGG
hsa05010
Alzheimer's disease pathway
hsa00190
Oxidative phosphorylation pathway
hsa05012
Parkinson's disease pathway
hsa05016
Huntington's disease pathway
INOH
PID NCI
Cross-References
SwissProt
TrEMBL J3QS34
UniProt Splice Variant
Entrez Gene 4729
UniGene
RefSeq NM_021074
HUGO HGNC:7717
OMIM 600532
CCDS CCDS11842
HPRD 02757
IMGT
EMBL AP005263 AP005899
GenPept
RNA Seq Atlas 4729

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca