2. Gene
  3. NADK2 - NAD kinase 2, mitochondrial Gene

NADK2 - NAD kinase 2, mitochondrial Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：NAD 激酶 2，线粒体

种属: Homo sapiens

同用名: DECRD; MNADK; NADKD1; C5orf33

基因 ID: 133686 | 基因类型: protein coding

关于 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.

功能概要

该基因编码一种线粒体激酶，可催化 NAD 磷酸化以产生 NADP。该基因的突变会导致 2,4-二烯酰辅酶 A 还原酶缺乏症。可变剪接导致多个转录本变体。[RefSeq 提供，2014 年 10 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables NAD+ kinase activity IDA
IDA: 通过直接分析推断
23212377 GOA
enables protein homodimerization activity IDA
IDA: 通过直接分析推断
23212377 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in NAD metabolic process IDA
IDA: 通过直接分析推断
23212377 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in mitochondrion IDA
IDA: 通过直接分析推断
23212377 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

NADK2 蛋白结构

NAD_kinase

NAD_kinase: ATP-NAD kinase (118 - 321)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 442 a.a.
蛋白主名 其他名称

NAD kinase 2, mitochondrial

NAD kinase domain-containing protein 1, mitochondrial

关联疾病

疾病名称 别名
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
疾病名称 别名
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS09005 NADK2 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 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
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