• Gene id: 4695

Gene Summary

• Gene Symbol: NDUFA2   Gene   UCSC   Ensembl
• Aliases: B8, CD14, CIB8, MC1DN13
• Gene name: NADH:ubiquinone oxidoreductase subunit A2
• Alternate names: NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 2, NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2, 8kDa, NADH-ubiquinone oxidoreductase subunit CI-B8, complex I B8 subunit,
• Gene location: 5q31.3 (140647784: 140645284)     Exons: 2     NC_000005.10
• Gene summary(Entrez): The encoded protein is a subunit of the hydrophobic protein fraction of the NADH:ubiquinone oxidoreductase (complex 1), the first enzyme complex in the electron transport chain located in the inner mitochondrial membrane, and may be involved in regulating
• OMIM: 602137

Protein Summary

• Protein general information: O43678  
  • Name: NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 2 (Complex I B8) (CI B8) (NADH ubiquinone oxidoreductase B8 subunit)
  • Length: 99  
  • Mass: 10922
• Sequence:

  MAAAAASRGVGAKLGLREIRIHLCQRSPGSQGVRDFIEKRYVELKKANPDLPILIRECSDVQPKLWARYAFGQET
  NVPLNNFSADQVTRALENVLSGKA

• Structural information:
  • Interpro: IPR016464  IPR007741  IPR036249  
  • PDB: 1S3A 5XTB 5XTD 5XTH 5XTI
  • PDBsum: 1S3A 5XTB 5XTD 5XTH 5XTI
  • STRING: ENSP00000252102
• Other Databases: GeneCards:  NDUFA2  Malacards:  NDUFA2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005747	mitochondrial respiratory chain complex I	IBA	cellular component
GO:0005747	mitochondrial respiratory chain complex I	IDA	cellular component
GO:0005747	mitochondrial respiratory chain complex I	IDA	cellular component
GO:0032981	mitochondrial respiratory chain complex I assembly	IMP	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0070469	respirasome	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0016020	membrane	IEA	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: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:0001835	blastocyst hatching	IEA	biological process
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0031966	mitochondrial membrane	IDA	cellular component
GO:0005747	mitochondrial respiratory chain complex I	IDA	cellular component
GO:0008137	NADH dehydrogenase (ubiquinone) activity	NAS	molecular function
GO:0005747	mitochondrial respiratory chain complex I	NAS	cellular component
GO:0006120	mitochondrial electron transport, NADH to ubiquinone	NAS	biological process

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
Leigh syndrome	KEGG:H01354
Leigh syndrome	KEGG:H01354
Alzheimer's disease	PMID:28474567
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)