Homo sapiens Gene: NDUFAF2
Summary
InnateDB Gene IDBG-23037.7
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol NDUFAF2
Gene Name NADH dehydrogenase (ubiquinone) complex I, assembly factor 2
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000164182
Encoded Proteins
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 2
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 2
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 2
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary NADH:ubiquinone oxidoreductase (complex I) catalyzes the transfer of electrons from NADH to ubiquinone (coenzyme Q) in the first step of the mitochondrial respiratory chain, resulting in the translocation of protons across the inner mitochondrial membrane. This gene encodes a complex I assembly factor. Mutations in this gene cause progressive encephalopathy resulting from mitochondrial complex I deficiency. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 5:60945129-61153037
Strand Forward strand
Band q12.1
Transcripts
ENST00000296597 ENSP00000296597
ENST00000511107 ENSP00000423377
ENST00000502658 ENSP00000426149
ENST00000512623
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 8 experimentally validated interaction(s) in this database.
Experimentally validated
Total 8 [view]
Protein-Protein 8 [view]
Protein-DNA 0
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:0022904 respiratory electron transport chain
GO:0045333 cellular respiration
GO:0061179 negative regulation of insulin secretion involved in cellular response to glucose stimulus
GO:0072593 reactive oxygen species metabolic process
Cellular Component
GO:0005739 mitochondrion
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
REACTOME
KEGG
INOH
PID NCI
Validated targets of C-MYC transcriptional activation
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.591757 Hs.636738
RefSeq NM_174889
HUGO
OMIM
CCDS CCDS3979
HPRD 14288
IMGT
EMBL
GenPept
RNA Seq Atlas