• Gene id: 4729

Gene Summary

• Gene Symbol: NDUFV2   Gene   UCSC   Ensembl
• Aliases: CI-24k, MC1DN7
• Gene name: NADH:ubiquinone oxidoreductase core subunit V2
• Alternate names: NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial, NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa, NADH dehydrogenase ubiquinone flavoprotein 2, mitochondrial, NADH-ubiquinone oxidoreductase 24 kDa subunit, NADH-ubiquinone oxidoreductase fl,
• Gene location: 18p11.22 (9102641: 9134340)     Exons: 11     NC_000018.10
• Gene summary(Entrez): The NADH-ubiquinone oxidoreductase complex (complex I) of the mitochondrial respiratory chain catalyzes the transfer of electrons from NADH to ubiquinone, and consists of at least 43 subunits. The complex is located in the inner mitochondrial membrane. Th
• OMIM: 600532

Protein Summary

• Protein general information: P19404  
  • Name: NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial (EC 1.6.99.3) (EC 7.1.1.2) (NADH ubiquinone oxidoreductase 24 kDa subunit)
  • Length: 249  
  • Mass: 27392
• Sequence:

  MFFSAALRARAAGLTAHWGRHVRNLHKTVMQNGAGGALFVHRDTPENNPDTPFDFTPENYKRIEAIVKNYPEGHK
  AAAVLPVLDLAQRQNGWLPISAMNKVAEVLQVPPMRVYEVATFYTMYNRKPVGKYHIQVCTTTPCMLRNSDSILE
  AIQKKLGIKVGETTPDKLFTLIEVECLGACVNAPMVQINDNYYEDLTAKDIEEIIDELKAGKIPKPGPRSGRFSC
  EPAGGLTSLTEPPKGPGFGVQAGL

• Structural information:
  • Interpro: IPR002023  IPR042128  IPR041921  IPR036249  
  • Prosite: PS01099
  • CDD: cd03064
  • PDB: 5XTB 5XTD 5XTH 5XTI
  • PDBsum: 5XTB 5XTD 5XTH 5XTI
  • STRING: ENSP00000327268
• Other Databases: GeneCards:  NDUFV2  Malacards:  NDUFV2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006120	mitochondrial electron transport, NADH to ubiquinone	IBA	biological process
GO:0005747	mitochondrial respiratory chain complex I	IBA	cellular component
GO:0022904	respiratory electron transport chain	IBA	biological process
GO:0005747	mitochondrial respiratory chain complex I	IDA	cellular component
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0051536	iron-sulfur cluster binding	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0070469	respirasome	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0051537	2 iron, 2 sulfur cluster binding	IEA	molecular function
GO:0008137	NADH dehydrogenase (ubiquinone) activity	IEA	molecular function
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005743	mitochondrial inner membrane	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:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0006120	mitochondrial electron transport, NADH to ubiquinone	IMP	biological process
GO:0048738	cardiac muscle tissue development	IMP	biological process
GO:0009055	electron transfer activity	NAS	molecular function
GO:0008137	NADH dehydrogenase (ubiquinone) activity	IMP	molecular function
GO:0008137	NADH dehydrogenase (ubiquinone) activity	NAS	molecular function
GO:0007399	nervous system development	IMP	biological process
GO:0005747	mitochondrial respiratory chain complex I	NAS	cellular component
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:0005747	mitochondrial respiratory chain complex I	IMP	cellular component

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
Parkinson's disease	PMID:9570948
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881