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
Method
Confidence
Comments
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Not yet available
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Pathways
NETPATH
REACTOME
KEGG
INOH
PID BIOCARTA
PID NCI
Validated targets of C-MYC transcriptional activation
Cross-References
SwissProt Q8N183
TrEMBL D6RA56
UniProt Splice Variant
Entrez Gene 91942
UniGene Hs.591757 Hs.636738
RefSeq NM_174889
HUGO HGNC:28086
OMIM 609653
CCDS CCDS3979
HPRD
IMGT
EMBL AB183433 AC008498 AC022445 AK291296 BC001753 BC033965 CH471123
GenPept AAH01753 AAH33965 BAD91205 BAF83985 EAW55008
RNA Seq Atlas 91942