NADK2 (NAD kinase 2, mitochondrial)

2013-05-01  

Identity

HGNC
NADK2
LOCATION
5p13.2
LOCUSID
133686
ALIAS
C5orf33,DECRD,MNADK,NADKD1
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

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

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
232123772012Identification and characterization of a human mitochondrial NAD kinase.35
248470042014Mitochondrial NADP(H) deficiency due to a mutation in NADK2 causes dienoyl-CoA reductase deficiency with hyperlysinemia.14
236169282013MNADK, a novel liver-enriched mitochondrion-localized NAD kinase.10
293883192018Clinical heterogeneity of mitochondrial NAD kinase deficiency caused by a NADK2 start loss variant.3
279407552016Lysine Restriction and Pyridoxal Phosphate Administration in a NADK2 Patient.2

Citation

Dessen P

NADK2 (NAD kinase 2, mitochondrial)

Atlas Genet Cytogenet Oncol Haematol. 2013-05-01

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