NADK2 (NAD kinase 2, mitochondrial)

2013-05-01  

Identity

HGNC
LOCATION
5p13.2
LOCUSID
ALIAS
C5orf33,DECRD,MNADK,NADKD1
FUSION GENES

Other Information

Locus ID:

NCBI: 133686
MIM: 615787
HGNC: 26404
Ensembl: ENSG00000152620

Variants:

dbSNP: 133686
ClinVar: 133686
TCGA: ENSG00000152620
COSMIC: NADK2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000152620ENST00000282512Q4G0N4
ENSG00000152620ENST00000282512A0A024R048
ENSG00000152620ENST00000381937Q4G0N4
ENSG00000152620ENST00000397338Q4G0N4
ENSG00000152620ENST00000397338A0A024R048
ENSG00000152620ENST00000502355H0Y9H7
ENSG00000152620ENST00000506945B7Z8V7
ENSG00000152620ENST00000511088D6RHI4
ENSG00000152620ENST00000514504Q4G0N4
ENSG00000152620ENST00000617628A0A0C4DGV3

Expression (GTEx)

0
10
20
30
40
50
60
70
80

Pathways

PathwaySourceExternal ID
Nicotinate and nicotinamide metabolismKEGGko00760
Nicotinate and nicotinamide metabolismKEGGhsa00760
Metabolic pathwaysKEGGhsa01100

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
358683112022Crystal structure of human NADK2 reveals a dimeric organization and active site occlusion by lysine acetylation.7
359448952022The mitochondrial NAD kinase functions as a major metabolic regulator upon increased energy demand.3
359448952022The mitochondrial NAD kinase functions as a major metabolic regulator upon increased energy demand.3
358683112022Crystal structure of human NADK2 reveals a dimeric organization and active site occlusion by lysine acetylation.7
359448952022The mitochondrial NAD kinase functions as a major metabolic regulator upon increased energy demand.3
359448952022The mitochondrial NAD kinase functions as a major metabolic regulator upon increased energy demand.3
338885982021Mitochondrial NADP(H) generation is essential for proline biosynthesis.43
338885982021Mitochondrial NADP(H) generation is essential for proline biosynthesis.43
293883192018Clinical heterogeneity of mitochondrial NAD kinase deficiency caused by a NADK2 start loss variant.17
293883192018Clinical heterogeneity of mitochondrial NAD kinase deficiency caused by a NADK2 start loss variant.17
279407552016Lysine Restriction and Pyridoxal Phosphate Administration in a NADK2 Patient.12
279407552016Lysine Restriction and Pyridoxal Phosphate Administration in a NADK2 Patient.12
248470042014Mitochondrial NADP(H) deficiency due to a mutation in NADK2 causes dienoyl-CoA reductase deficiency with hyperlysinemia.31
248470042014Mitochondrial NADP(H) deficiency due to a mutation in NADK2 causes dienoyl-CoA reductase deficiency with hyperlysinemia.31
236169282013MNADK, a novel liver-enriched mitochondrion-localized NAD kinase.23

Citation

Dessen P

NADK2 (NAD kinase 2, mitochondrial)

Atlas Genet Cytogenet Oncol Haematol. 2013-05-01

Online version: http://atlasgeneticsoncology.org/gene/53303/nadk2