Version 5.4
Homo sapiens Gene: NDUFA2
Summary
InnateDB Gene IDBG-49281.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol NDUFA2
Gene Name NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2, 8kDa
Synonyms B8; CD14; CIB8
Species Homo sapiens
Ensembl Gene ENSG00000131495
Encoded Proteins
IDBP-49283
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2, 8kDa
IDBP-479200
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2, 8kDa
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary The encoded protein is a subunit of the hydrophobic protein fraction of the NADH:ubiquinone oxidoreductase (complex 1), the first enzyme complex in the electron transport chain located in the inner mitochondrial membrane, and may be involved in regulating complex I activity or its assembly via assistance in redox processes. Mutations in this gene are associated with Leigh syndrome, an early-onset progressive neurodegenerative disorder. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]
Gene Information
Type Protein coding
Genomic Location Chromosome 5:140638740-140647785
Strand Reverse strand
Band q31.3
Transcripts
ENST00000252102 ENSP00000252102
ENST00000510680
ENST00000512088 ENSP00000427220
ENST00000502960
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 49 experimentally validated interaction(s) in this database.
Experimentally validated
Total 49 [view]
Protein-Protein 47 [view]
Protein-DNA 2 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0008137 NADH dehydrogenase (ubiquinone) activity
Biological Process
GO:0006120 mitochondrial electron transport, NADH to ubiquinone
GO:0022904 respiratory electron transport chain
GO:0044237 cellular metabolic process
GO:0044281 small molecule metabolic process
Cellular Component
GO:0005739 mitochondrion
GO:0005743 mitochondrial inner membrane
GO:0005747 mitochondrial respiratory chain complex I
GO:0031966 mitochondrial membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000014294
View Gene Order
ENSBTAG00000015041
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
UniProt Splice Variant
Entrez Gene
UniGene
RefSeq NM_001185012 NM_002488
HUGO
OMIM
CCDS CCDS4234 CCDS54911
HPRD 11883
IMGT
EMBL
GenPept
RNA Seq Atlas

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