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  2. NADK2 - NAD kinase 2, mitochondrial Gene

NADK2 - NAD kinase 2, mitochondrial Gene

Homo sapiens

Also known as DECRD; MNADK; NADKD1; C5orf33

Gene ID: 133686 | Gene type: protein coding

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

NADK2 Protein Structure

NAD_kinase

NAD_kinase: ATP-NAD kinase (118 - 321)

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  • 442 a.a.
Protein Preferred Names Protein Names

NAD kinase 2, mitochondrial

NAD kinase domain-containing protein 1, mitochondrial

Related Diseases

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

Orthologs Information

Species Symbol Source 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