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  3. NMNAT2 - nicotinamide nucleotide adenylyltransferase 2 Gene

NMNAT2 - nicotinamide nucleotide adenylyltransferase 2 Gene

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

中文名称：烟酰胺核苷酸腺苷酸转移酶 2

种属: Homo sapiens

同用名: PNAT2; C1orf15

基因 ID: 23057 | 基因类型: protein coding

关于 NMNAT2

Cytogenetic location: 1q25.3 Genomic coordinates (GRCh38): 1:183,248,237-183,418,380 (from NCBI)

This gene has 4 transcripts (splice variants), 212 orthologues and 2 paralogues. Biased expression in brain (RPKM 32.6), heart (RPKM 7.5) and 5 other tissues.

功能概要

该基因产物属于烟酰胺单核苷酸腺苷酸转移酶 (NMNAT) 酶家族，其成员催化 NAD (NADP) 生物合成途径中的一个重要步骤。不同于定位于细胞核并无处不在表达的其他人类家族成员；这种酶存在于细胞质中，主要在大脑中表达。已发现该基因的两个转录本变体编码不同的亚型。[RefSeq 提供，2008 年 7 月]

This gene product belongs to the nicotinamide mononucleotide adenylyltransferase (NMNAT) enzyme family, members of which catalyze an essential step in NAD (NADP) biosynthetic pathway. Unlike the Other human family member, which is localized to the nucleus, and is ubiquitously expressed; this enzyme is cytoplasmic, and is predominantly expressed in the brain. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

NMNAT2 基因产物(2)

mRNA Protein Name
NM_015039.4 NP_055854.1 nicotinamide/nicotinic acid mononucleotide adenylyltransferase 2 isoform 1
NM_170706.4 NP_733820.1 nicotinamide/nicotinic acid mononucleotide adenylyltransferase 2 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 nicotinate-nucleotide adenylyltransferase activity IDA
IDA: 通过直接分析推断
16118205 GOA
enables protein ADP-ribosyltransferase-substrate adaptor activity IDA
IDA: 通过直接分析推断
34314702 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in negative regulation of cytoplasmic translation IDA
IDA: 通过直接分析推断
34314702 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in Golgi apparatus IDA
IDA: 通过直接分析推断
16118205 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

NMNAT2 蛋白结构

CTP_transf_like

CTP_transf_like: Cytidylyltransferase-like (12 - 274)

  • 0
  • 100
  • 200
  • 307 a.a.
蛋白主名 其他名称

nicotinamide/nicotinic acid mononucleotide adenylyltransferase 2

NMN adenylyltransferase 2

关联疾病

疾病名称 别名
Wallerian Degeneration

Wallerian Degeneration Of The Pyramidal Tract
Erythromelalgia

Primary Erythromelalgia

Erythermalgia

Primary Erythermalgia

Mitchell Disease

Familial Erythromelalgia
Leber Congenital Amaurosis 9

LCA9

Leber Congenital Amaurosis, Type 9
Charcot-Marie-Tooth Disease, Axonal, Type 2e

Charcot-Marie-Tooth Disease Type 2

CMT2E

CMT2S

CMT2Y

Charcot-Marie-Tooth Disease Type 2e

Charcot-Marie-Tooth Disease Type 2y

Charcot-Marie-Tooth Disease Axonal Type 2s

Charcot-Marie-Tooth Disease, Axonal, Type 2s

Charcot-Marie-Tooth Disease, Type 2e

Hereditary Motor And Sensory Neuropathy Type 2

Charcot-Marie-Tooth Neuropathy, Type 2s

Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2s

Charcot-Marie-Tooth Disease, Axonal, Type 2y

Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2y

Charcot-Marie-Tooth Neuropathy, Type 2y

Charcot-Marie-Tooth Disease, Type 2y

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2e

Charcot-Marie-Tooth Neuropathy Type 2e

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To Vcp Mutation

Cmt2 Due To Vcp Mutation

Charcot-Marie-Tooth Disease Type 2s

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2

Autosomal Dominant Axonal Charcot-Marie-Tooth Disease

Cmt2

Charcot-Marie-Tooth Neuropathy, Type 2e

Hereditary Motor And Sensory Neuropathy Guadalajara Neuronal Type

Hereditary Motor And Sensory Neuropathy Okinawa Type

Autosomal Dominant Axonal Charcot-Marie-Tooth Type 2y

Charcot-Marie-Tooth Neuropathy Type 2y

Autosomal Recessive Axonal Charcot-Marie-Tooth Type 2s

Charcot-Marie-Tooth Neuropathy Type 2s

Charcot-Marie-Tooth Type 2

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2y

Charcot-Marie-Tooth Disease 2e

Charcot-Marie-Tooth Disease Axonal Type 2e

Charcot-Marie-Tooth Disease Neuronal Type 2e

Charcot-Marie-Tooth Disease 2s

Charcot-Marie-Tooth Neuropathy Axonal Type 2s

Charcot-Marie-Tooth Disease 2y

Charcot-Marie-Tooth Disease, Type 2

Hereditary Motor And Sensory-Neuropathy Type Ii
Leber Plus Disease

Leber Congenital Amaurosis

Lca

Leber'S Amaurosis

Leber'S Disease

Amaurosis Congenita Of Leber

Amaurosis Congenita Of Leber, Type 1

Lhon Plus Disease

Congenital Absence Of The Rods And Cones

Congenital Retinal Blindness

Crb

Congenital Amaurosis Of Retinal Origin

Leber'S Congenital Amaurosis

Leber Congenital Amaurosis 1

Leber'S Congenital Tapetoretinal Degeneration

Leber'S Congenital Tapetoretinal Dysplasia

Lca1

Leber Congenital Amaurosis Type 1

Retinal Blindness, Congenital

Amaurosis, Leber Congenital

Dysgenesis Neuroepithelialis Retinae

Hereditary Epithelial Dysplasia Of Retina

Hereditary Retinal Aplasia

Heredoretinopathia Congenitalis

Leber Abiotrophy

Leber Congenital Tapetoretinal Degeneration

Lebers Congenital Amaurosis

Optic Atrophy, Hereditary, Leber
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 (3)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS09383 NMNAT2 Human Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS18871 Nmnat2 Mouse Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS25362 Nmnat2 Rat Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Bos taurus NMNAT2 VGNC VGNC:32133
Mus musculus NMNAT2 MGD MGI:2444155
Felis catus NMNAT2 VGNC VGNC:107905
Macaca mulatta NMNAT2 VGNC VGNC:75193
Rattus norvegicus NMNAT2 RGD RGD:1307331
Canis familiaris NMNAT2 VGNC VGNC:43863
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