NADK2 - NAD kinase 2, mitochondrial Gene

Also Known as DECRD; MNADK; NADKD1; C5orf33

生物種: Homo sapiens

遺伝子タイプ: protein coding

遺伝子ID: 133686

About NADK2

Cytogenetic location: 5p13.2 Genomic coordinates (GRCh38): 5:36,192,589-36,242,279 (from NCBI)

This gene has 11 transcripts (splice variants), 211 orthologues and is associated with 3 phenotypes. Broad expression in liver (RPKM 62.0), brain (RPKM 14.1) and 22 other tissues.

Summary

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 2014]

NADK2 Products (4)

mRNA	Protein	Name
NM_001085411.3	NP_001078880.1	NAD kinase 2, mitochondrial isoform 1
NM_001287340.2	NP_001274269.1	NAD kinase 2, mitochondrial isoform 2
NM_001287341.2	NP_001274270.1	NAD kinase 2, mitochondrial isoform 3
NM_153013.5	NP_694558.1	NAD kinase 2, mitochondrial isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	参考文献	由来
enables NAD+ kinase activity	IDA IDA: Inferred from direct assay	23212377	GOA
enables protein homodimerization activity	IDA IDA: Inferred from direct assay	23212377	GOA

Biological Process GO Annotation	Evidence	参考文献	由来
involved in NAD metabolic process	IDA IDA: Inferred from direct assay	23212377	GOA

Cellular Component GO Annotation	Evidence	参考文献	由来
located in mitochondrion	IDA IDA: Inferred from direct assay	23212377	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

NADK2 Protein Structure

NAD_kinase

0
100
200
300
400
442 a.a.

Protein Preferred Names	Protein Names
NAD kinase 2, mitochondrial	NAD kinase domain-containing protein 1, mitochondrial

関連疾患

Diseases	Alias
2,4-Dienoyl-Coa Reductase Deficiency	Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency DECRD 2,4-Alpha Dienoyl-Coa Reductase Deficiency Dienoyl-Coa Reductase Deficiency Decr Deficiency With Hyperlysinemia
Hyperlysinemia, Type I	Hyperlysinemia Lysine Intolerance Alpha-Aminoadipic Semialdehyde Synthase Deficiency Lysine:Alpha-Ketoglutarate Reductase Deficiency L-Lysine:Nad-Oxido-Reductase Deficiency Lysine Alpha-Ketoglutarate Reductase Deficiency Alpha-Aminoadipic Semialdehyde Deficiency Disease Lysine Alpha-Ketoglutarate Reductase Deficiency Disease Saccharopinuria Hyperlysinemia Type I Hyperlysinemias L-Lysine Nad-Oxido-Reductase Deficiency Familial Hyperlysinemia Saccharopine Dehydrogenase Deficiency Disease Hyperlysinemia, 1 HYPLYS1 Saccharopine Dehydrogenase Deficiency
Hyperprolinemia, Type I	Proline Oxidase Deficiency Hyperprolinemia Type 1 HYRPRO1 Hpi Hyperprolinemia Type I Hyperprolinemia 1 Proline Dehydrogenase Deficiency
Hyperprolinemia, Type Ii	Hyperprolinemia Type 2 HYRPRO2 Hpii 1-Pyrroline-5-Carboxylate Dehydrogenase Deficiency Hyperprolinemia Type Ii 1 Alpha Pyrroline-5-Carboxylate Dehydrogenase Deficiency Type 2 Hyperprolinemia Delta-1-Pyrroline-5-Carboxylate Dehydrogenase Deficiency Hyperprolinemia 2
Fumarase Deficiency	Fumaric Aciduria FMRD Fumarate Hydratase Deficiency Deficiency, Fumarase

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

製品番号	製品名	製品効果	純度	Rare Diseases
HY-RS09005	NADK2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

生物種	Symbol	由来	ID
Rattus norvegicus	NADK2	RGD	RGD:1306809
Macaca mulatta	NADK2	VGNC	VGNC:75029
Bos taurus	NADK2	VGNC	VGNC:31864
Felis catus	NADK2	VGNC	VGNC:63710
Mus musculus	NADK2	MGD	MGI:1915896
Others	NADK2	NCBI