• Gene id: 4720

Gene Summary

• Gene Symbol: NDUFS2   Gene   UCSC   Ensembl
• Aliases: CI-49, MC1DN6
• Gene name: NADH:ubiquinone oxidoreductase core subunit S2
• Alternate names: NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial, CI-49kD, NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase), NADH-ubiquinone oxidoreductase 49 kDa subunit, NADH-ubiquinone oxidoreductase NDUFS2 subunit, comp,
• Gene location: 1q23.3 (184826592: 184755594)     Exons: 28     NC_000004.12
• Gene summary(Entrez): The protein encoded by this gene is a core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (complex I). Mammalian mitochondrial complex I is composed of at least 43 different subunits, 7 of which are encoded by the mitochondrial
• OMIM: 602985

Protein Summary

• Protein general information: O75306  
  • Name: NADH dehydrogenase [ubiquinone] iron sulfur protein 2, mitochondrial (EC 1.6.99.3) (EC 7.1.1.2) (Complex I 49kD) (CI 49kD) (NADH ubiquinone oxidoreductase 49 kDa subunit)
  • Length: 463  
  • Mass: 52546
• Sequence:

  MAALRALCGFRGVAAQVLRPGAGVRLPIQPSRGVRQWQPDVEWAQQFGGAVMYPSKETAHWKPPPWNDVDPPKDT
  IVKNITLNFGPQHPAAHGVLRLVMELSGEMVRKCDPHIGLLHRGTEKLIEYKTYLQALPYFDRLDYVSMMCNEQA
  YSLAVEKLLNIRPPPRAQWIRVLFGEITRLLNHIMAVTTHALDLGAMTPFFWLFEEREKMFEFYERVSGARMHAA
  YIRPGGVHQDLPLGLMDDIYQFSKNFSLRLDELEELLTNNRIWRNRTIDIGVVTAEEALNYGFSGVMLRGSGIQW
  DLRKTQPYDVYDQVEFDVPVGSRGDCYDRYLCRVEEMRQSLRIIAQCLNKMPPGEIKVDDAKVSPPKRAEMKTSM
  ESLIHHFKLYTEGYQVPPGATYTAIEAPKGEFGVYLVSDGSSRPYRCKIKAPGFAHLAGLDKMSKGHMLADVVAI
  IGTQDIVFGEVDR

• Structural information:
  • Interpro: IPR001135  IPR038290  IPR014029  IPR022885  IPR029014  
  • Prosite: PS00535
  • PDB: 5XTB 5XTC 5XTD 5XTH 5XTI
  • PDBsum: 5XTB 5XTC 5XTD 5XTH 5XTI
  • STRING: ENSP00000356972
• Other Databases: GeneCards:  NDUFS2  Malacards:  NDUFS2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0031625	ubiquitin protein ligase binding	IPI	molecular function
GO:0006120	mitochondrial electron transport, NADH to ubiquinone	IBA	biological process
GO:0008137	NADH dehydrogenase (ubiquinone) activity	IBA	molecular function
GO:0005747	mitochondrial respiratory chain complex I	IBA	cellular component
GO:0005747	mitochondrial respiratory chain complex I	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0016651	oxidoreductase activity, acting on NAD(P)H	IEA	molecular function
GO:0048038	quinone binding	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0051287	NAD binding	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0051539	4 iron, 4 sulfur cluster binding	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0070469	respirasome	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0051536	iron-sulfur cluster binding	IEA	molecular function
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0008137	NADH dehydrogenase (ubiquinone) activity	IEA	molecular function
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0032981	mitochondrial respiratory chain complex I assembly	TAS	biological process
GO:0006120	mitochondrial electron transport, NADH to ubiquinone	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0042775	mitochondrial ATP synthesis coupled electron transport	IMP	biological process
GO:0005747	mitochondrial respiratory chain complex I	IMP	cellular component
GO:0006979	response to oxidative stress	IDA	biological process
GO:0005747	mitochondrial respiratory chain complex I	IDA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0009055	electron transfer activity	NAS	molecular function
GO:0005747	mitochondrial respiratory chain complex I	IMP	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0006120	mitochondrial electron transport, NADH to ubiquinone	NAS	biological process
GO:0006120	mitochondrial electron transport, NADH to ubiquinone	NAS	biological process
GO:0008137	NADH dehydrogenase (ubiquinone) activity	NAS	molecular function
GO:0008137	NADH dehydrogenase (ubiquinone) activity	NAS	molecular function
GO:0005747	mitochondrial respiratory chain complex I	NAS	cellular component
GO:0005739	mitochondrion	NAS	cellular component
GO:0003954	NADH dehydrogenase activity	IMP	contributes to

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa05010	Alzheimer disease
hsa05016	Huntington disease
hsa05012	Parkinson disease
hsa04714	Thermogenesis
hsa04723	Retrograde endocannabinoid signaling
hsa00190	Oxidative phosphorylation
hsa04932	Non-alcoholic fatty liver disease

Diseases

Associated diseases	References
Mitochondrial complex I deficiency	KEGG:H00473
Mitochondrial complex I deficiency	KEGG:H00473
hypertrophic cardiomyopathy	PMID:11220739
Multiple sclerosis	PMID:18682780
Leigh disease	PMID:20819849
inherited metabolic disorder	PMID:11220739
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq