Logo
full name
NADH:ubiquinone oxidoreductase core subunit S2

synonyms
CI-49, NDUFS2, ENSG00000158864

HGNC
HGNC:7708

Entrez Gene
Gene:4720

ENSEMBL
ENSG00000158864

location
chr: 1
start: 161167209
stop: 161184185
strand: +

OMIM
OMIM:602985: NDUFS2 (Autosomal recessive inheritance,X-linked dominant inheritance,Mitochondrial inheritance)
OMIM:252010: Mitochondrial complex I deficiency

transcripts
NM_004550.4
NM_001166159.1

pathways
Alzheimer's disease [NCBI:83097] [KEGG:hsa05010] [PUBMED:18782350] [PUBMED:18035450] [PUBMED:10527810] [PUBMED:16677790] [PUBMED:15295589] [PUBMED:15363492] [PUBMED:15750290] [PUBMED:15864339] [PUBMED:18675468] [PUBMED:9848086] [PUBMED:11484003] [PUBMED:17568632] [PUBMED:15177383] [PUBMED:17055782] [PUBMED:15232608] [PUBMED:10830966] [PUBMED:16529745]
Complex I biogenesis [NCBI:1339146] [REACTOME:R-HSA-6799198] [PUBMED:24191001] [PUBMED:21924235] [PUBMED:16760263] [PUBMED:20552642]
Electron Transport Chain [NCBI:198860] [WikiPathways:WP111]
Huntington's disease [NCBI:83100] [KEGG:hsa05016] [PUBMED:15336977] [PUBMED:11738471] [PUBMED:11807533] [PUBMED:15996546] [PUBMED:14526190] [PUBMED:15242639] [PUBMED:15996541] [PUBMED:17041811] [PUBMED:18951640] [PUBMED:11839795] [PUBMED:17081970] [PUBMED:15459747] [PUBMED:16288298] [PUBMED:15695335] [PUBMED:12372277]
Metabolic pathways [NCBI:132956] [KEGG:hsa01100]
Metabolism [NCBI:1269956] [REACTOME:R-HSA-1430728]
Non-alcoholic fatty liver disease (NAFLD) [NCBI:862188] [KEGG:hsa04932] [PUBMED:21038418] [PUBMED:17498512] [PUBMED:19352614] [PUBMED:12891546] [PUBMED:9285483] [PUBMED:23299992] [PUBMED:22570745] [PUBMED:16364488] [PUBMED:18061659] [PUBMED:22705006] [PUBMED:16374858] [PUBMED:18242193] [PUBMED:20303879] [PUBMED:22940046] [PUBMED:20619513] [PUBMED:16406828] [PUBMED:14685853] [PUBMED:23545492] [PUBMED:21145844]
Oxidative phosphorylation [NCBI:82942] [KEGG:hsa00190] [NCBI:198870] [WikiPathways:WP623] [PUBMED:7654171] [PUBMED:14641005] [PUBMED:11340051] [PUBMED:11771674] [PUBMED:15869601] [PUBMED:15490415] [PUBMED:3881803] [PUBMED:388618] [PUBMED:4291593] [PUBMED:4381909] [PUBMED:16469879] [PUBMED:16584177] [PUBMED:10600673]
Parkinson's disease [NCBI:83098] [KEGG:hsa05012] [PUBMED:12461550] [PUBMED:15767499] [PUBMED:21811441] [PUBMED:15525720] [PUBMED:16022590] [PUBMED:16495942] [PUBMED:15681812] [PUBMED:18426756] [PUBMED:12971891] [PUBMED:16278972] [PUBMED:11331916] [PUBMED:18680555] [PUBMED:15770999] [PUBMED:12938733] [PUBMED:12728264] [PUBMED:15054086] [PUBMED:22927178] [PUBMED:17911161] [PUBMED:20236221]
Respiratory electron transport [NCBI:1270128] [REACTOME:R-HSA-611105] [PUBMED:10647174] [PUBMED:2862839]
Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. [NCBI:1270127] [REACTOME:R-HSA-163200]
The citric acid (TCA) cycle and respiratory electron transport [NCBI:1270121] [REACTOME:R-HSA-1428517]