|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
gptkb:Complex_I-49kD_subunit
gptkb:NADH_dehydrogenase_[ubiquinone]_iron-sulfur_protein_2
CI-49kD
|
|
gptkbp:associatedWith
|
gptkb:mitochondrial_complex_I
|
|
gptkbp:discoveredBy
|
mitochondrial research community
|
|
gptkbp:encodes
|
NADH:ubiquinone oxidoreductase core subunit S2
|
|
gptkbp:Entrez_Gene_ID
|
4720
ENSG00000137766
|
|
gptkbp:expressedIn
|
mitochondria
|
|
gptkbp:function
|
oxidative phosphorylation
electron transport chain
|
|
gptkbp:HGNC_ID
|
gptkb:HGNC:7702
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
NDUFS2 gene
|
|
gptkbp:length
|
20,000 bases (approximate)
|
|
gptkbp:locatedOnChromosome
|
chromosome 1
1q23.3
|
|
gptkbp:mutationAssociatedWith
|
gptkb:Leigh_syndrome
mitochondrial complex I deficiency
neurodegenerative disorders
|
|
gptkbp:OMIM
|
602985
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologInMouse
|
Ndufs2
|
|
gptkbp:orthologInYeast
|
Ndi1
|
|
gptkbp:pathway
|
Reactome R-HSA-611105 (Respiratory electron transport)
KEGG hsa00190 (Oxidative phosphorylation)
|
|
gptkbp:product
|
NDUFS2 protein
|
|
gptkbp:RefSeq
|
gptkb:NM_002495
|
|
gptkbp:UniProtID
|
O75380
|
|
gptkbp:bfsParent
|
gptkb:NDUFS2
|
|
gptkbp:bfsLayer
|
7
|