• Gene id: 4708

Gene Summary

• Gene Symbol: NDUFB2   Gene   UCSC   Ensembl
• Aliases: AGGG, CI-AGGG
• Gene name: NADH:ubiquinone oxidoreductase subunit B2
• Alternate names: NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 2, mitochondrial, NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 2, 8kDa, NADH-ubiquinone oxidoreductase AGGG subunit, complex I AGGG subunit, complex I-AGGG,
• Gene location: 7q34 (140696707: 140706642)     Exons: 4     NC_000007.14
• Gene summary(Entrez): The protein encoded by this gene is a subunit of the multisubunit NADH:ubiquinone oxidoreductase (complex I). Mammalian complex I is composed of 45 different subunits. This protein has NADH dehydrogenase activity and oxidoreductase activity. It plays a im
• OMIM: 616382

Protein Summary

• Protein general information: O95178  
  • Name: NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 2, mitochondrial (Complex I AGGG) (CI AGGG) (NADH ubiquinone oxidoreductase AGGG subunit)
  • Length: 105  
  • Mass: 12058
• Sequence:

  MSALTRLASFARVGGRLFRSGCARTAGDGGVRHAGGGVHIEPRYRQFPQLTRSQVFQSEFFSGLMWFWILWRFWH
  DSEEVLGHFPYPDPSQWTDEELGIPPDDED

• Structural information:
  • Interpro: IPR026627  
  • PDB: 5XTC 5XTD 5XTH 5XTI
  • PDBsum: 5XTC 5XTD 5XTH 5XTI
  • STRING: ENSP00000419087
• Other Databases: GeneCards:  NDUFB2  Malacards:  NDUFB2

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:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005747	mitochondrial respiratory chain complex I	IEA	cellular component
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0070469	respirasome	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005739	mitochondrion	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:0006120	mitochondrial electron transport, NADH to ubiquinone	TAS	biological process
GO:0032981	mitochondrial respiratory chain complex I assembly	TAS	biological process
GO:0005743	mitochondrial inner membrane	IEA	cellular component
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	NAS	cellular component
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:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005747	mitochondrial respiratory chain complex I	IEA	cellular component
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0070469	respirasome	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005739	mitochondrion	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:0006120	mitochondrial electron transport, NADH to ubiquinone	TAS	biological process
GO:0032981	mitochondrial respiratory chain complex I assembly	TAS	biological process
GO:0005743	mitochondrial inner membrane	IEA	cellular component
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	NAS	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
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881