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
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2, 8kDa
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
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. pathway
The citric acid (TCA) cycle and respiratory electron transport pathway
Metabolism pathway
Respiratory electron transport pathway
KEGG
Oxidative phosphorylation pathway
Alzheimer's disease pathway
Parkinson's disease pathway
Huntington's disease pathway
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt O43678
TrEMBL
UniProt Splice Variant
Entrez Gene 4695
UniGene
RefSeq NM_001185012 NM_002488
HUGO HGNC:7685
OMIM 602137
CCDS CCDS54911 CCDS4234
HPRD 11883
IMGT
EMBL AB054976 AC116353 AF047185 AF077029 AV705564 BC003674 CR457016
GenPept AAC04270 AAD27762 AAH03674 BAB21453 CAG33297
RNA Seq Atlas 4695