• Gene id: 133686

Gene Summary

• Gene Symbol: NADK2   Gene   UCSC   Ensembl
• Aliases: C5orf33, DECRD, MNADK, NADKD1
• Gene name: NAD kinase 2, mitochondrial
• Alternate names: NAD kinase 2, mitochondrial, NAD kinase domain-containing protein 1, mitochondrial,
• Gene location: 5p13.2 (25998163: 25959763)     Exons: 13     NC_000001.11
• Gene summary(Entrez): This gene encodes a mitochondrial kinase that catalyzes the phosphorylation of NAD to yield NADP. Mutations in this gene result in 2,4-dienoyl-CoA reductase deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct
• OMIM: 615787

Protein Summary

• Protein general information: Q4G0N4  
  • Name: NAD kinase 2, mitochondrial (EC 2.7.1.23) (Mitochondrial NAD kinase) (NAD kinase domain containing protein 1, mitochondrial)
  • Length: 442  
  • Mass: 49433
  • Tissue specificity: Widely expressed. {ECO
• Sequence:

  MTCYRGFLLGSCCRVAGGRAAALRGPGAGGPAARPRLGGDGGGRRHLGQGQPRELAGCGSRADGGFRPSRVVVVA
  KTTRYEFEQQRYRYAELSEEDLKQLLALKGSSYSGLLERHHIHTKNVEHIIDSLRNEGIEVRLVKRREYDEETVR
  WADAVIAAGGDGTMLLAASKVLDRLKPVIGVNTDPERSEGHLCLPVRYTHSFPEALQKFYRGEFRWLWRQRIRLY
  LEGTGINPVPVDLHEQQLSLNQHNRALNIERAHDERSEASGPQLLPVRALNEVFIGESLSSRASYYEISVDDGPW
  EKQKSSGLNLCTGTGSKAWSFNINRVATQAVEDVLNIAKRQGNLSLPLNRELVEKVTNEYNESLLYSPEEPKILF
  SIREPIANRVFSSSRQRCFSSKVCVRSRCWDACMVVDGGTSFEFNDGAIASMMINKEDELRTVLLEQ

• Structural information:
  • Interpro: IPR017438  IPR017437  IPR016064  IPR002504  IPR012355  
  • STRING: ENSP00000371362
• Other Databases: GeneCards:  NADK2  Malacards:  NADK2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0019674	NAD metabolic process	IBA	biological process
GO:0003951	NAD+ kinase activity	IBA	molecular function
GO:0005739	mitochondrion	IBA	cellular component
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0019674	NAD metabolic process	IDA	biological process
GO:0003951	NAD+ kinase activity	IDA	molecular function
GO:0005739	mitochondrion	IDA	cellular component
GO:0003951	NAD+ kinase activity	IEA	molecular function
GO:0019674	NAD metabolic process	IEA	biological process
GO:0006741	NADP biosynthetic process	IEA	biological process
GO:0016301	kinase activity	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0016310	phosphorylation	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0003951	NAD+ kinase activity	IEA	molecular function
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0019674	NAD metabolic process	TAS	biological process
GO:0005739	mitochondrion	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00760	Nicotinate and nicotinamide metabolism

Diseases

Associated diseases	References
Disorders of mitochondrial fatty-acid oxidation	KEGG:H00525
2,4-Dienoyl-CoA reductase deficiency	KEGG:H01929
Disorders of mitochondrial fatty-acid oxidation	KEGG:H00525
2,4-Dienoyl-CoA reductase deficiency	KEGG:H01929
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)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)