• Gene id: 91942

Gene Summary

• Gene Symbol: NDUFAF2   Gene   UCSC   Ensembl
• Aliases: B17.2L, MC1DN10, MMTN, NDUFA12L, mimitin
• Gene name: NADH:ubiquinone oxidoreductase complex assembly factor 2
• Alternate names: NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 2, Myc-induced mitochondrial protein, NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 2, NADH dehydrogenase (ubiquinone) complex I, assembly factor 2, NADH dehydrogenase 1 ,
• Gene location: 5q12.1 (134412241: 134378503)     Exons: 11     NC_000011.10
• Gene summary(Entrez): NADH:ubiquinone oxidoreductase (complex I) catalyzes the transfer of electrons from NADH to ubiquinone (coenzyme Q) in the first step of the mitochondrial respiratory chain, resulting in the translocation of protons across the inner mitochondrial membrane
• OMIM: 609653

Protein Summary

• Protein general information: Q8N183  
  • Name: NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 2 (B17.2 like) (B17.2L) (Mimitin) (Myc induced mitochondrial protein) (MMTN) (NDUFA12 like protein)
  • Length: 169  
  • Mass: 19856
  • Tissue specificity: Highly expressed in ESCC cells. Also expressed in heart, skeletal muscle, liver, and in fibroblasts. {ECO
• Sequence:

  MGWSQDLFRALWRSLSREVKEHVGTDQFGNKYYYIPQYKNWRGQTIREKRIVEAANKKEVDYEAGDIPTEWEAWI
  RRTRKTPPTMEEILKNEKHREEIKIKSQDFYEKEKLLSKETSEELLPPPVQTQIKGHASAPYFGKEEPSVAPSST
  GKTFQPGSWMPRDGKSHNQ

• Structural information:
  • Interpro: IPR007763  
  • STRING: ENSP00000296597
• Other Databases: GeneCards:  NDUFAF2  Malacards:  NDUFAF2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0045333	cellular respiration	IBA	biological process
GO:0008137	NADH dehydrogenase (ubiquinone) activity	IEA	molecular function
GO:0009055	electron transfer activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	IDA	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: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: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:0045333	cellular respiration	IEA	biological process
GO:0008137	NADH dehydrogenase (ubiquinone) activity	IEA	molecular function
GO:0022904	respiratory electron transport chain	IEA	biological process
GO:0061179	negative regulation of insulin secretion involved in cellular response to glucose stimulus	IEA	biological process
GO:0072593	reactive oxygen species metabolic process	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04714	Thermogenesis

Diseases

Associated diseases	References
Mitochondrial complex I deficiency	KEGG:H00473
Leigh syndrome	KEGG:H01354
Mitochondrial complex I deficiency	KEGG:H00473
Leigh syndrome	KEGG:H01354
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Hypospermatogenesis	MIK: 28361989
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray