NSUN2 - NOP2/Sun RNA methyltransferase 2 Gene

中文名称：NOP2/Sun RNA 甲基转移酶 2

种属: Homo sapiens

同用名: MISU; MRT5; SAKI; TRM4

基因 ID: 54888 | 基因类型: protein coding

关于 NSUN2

Cytogenetic location: 5p15.31 Genomic coordinates (GRCh38): 5:6,599,239-6,633,044 (from NCBI)

This gene has 9 transcripts (splice variants), 208 orthologues, 2 paralogues and is associated with 4 phenotypes. Ubiquitous expression in lymph node (RPKM 14.3), appendix (RPKM 14.2) and 25 other tissues.

功能概要

该基因编码一种甲基转移酶，该酶催化胞嘧啶甲基化为含内含子的 tRNA (Leu) (CAA) 前体第 34 位的 5-甲基胞嘧啶 (m5C) 。这种修饰是稳定反密码子-密码子配对和正确翻译 mRNA 所必需的。已注意到该基因编码不同亚型的可变剪接转录变体。[RefSeq 提供，2011 年 3 月]

This gene encodes a methyltransferase that catalyzes the methylation of cytosine to 5-methylcytosine (m5C) at position 34 of intron-containing tRNA(Leu)(CAA) precursors. This modification is necessary to stabilize the anticodon-codon pairing and correctly translate the mRNA. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene.[provided by RefSeq, Mar 2011]

NSUN2 基因产物(2)

mRNA	Protein	Name
NM_001193455.2	NP_001180384.1	RNA cytosine C(5)-methyltransferase NSUN2 isoform 2
NM_017755.6	NP_060225.4	RNA cytosine C(5)-methyltransferase NSUN2 isoform 1

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 mRNA (cytidine-5-)-methyltransferase activity	IDA IDA: 通过直接分析推断	22395603	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	33961781	GOA
enables tRNA (cytidine-5-)-methyltransferase activity	EXP EXP: 通过实验结果推断	17071714	GOA
enables tRNA (cytidine-5-)-methyltransferase activity	IDA IDA: 通过直接分析推断	17071714	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in mRNA processing	IDA IDA: 通过直接分析推断	22395603	GOA
involved in regulation of mRNA export from nucleus	IDA IDA: 通过直接分析推断	28418038	GOA
involved in tRNA methylation	IDA IDA: 通过直接分析推断	17071714	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in cytoplasm	IDA IDA: 通过直接分析推断	17071714	GOA
located in extracellular exosome	IDA IDA: 通过直接分析推断	28341602	GOA
located in mitochondrion	IDA IDA: 通过直接分析推断	31276587	GOA
located in nucleolus	IDA IDA: 通过直接分析推断	17071714	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

NSUN2 蛋白结构

Methyltr_RsmB-F

0
200
400
600
767 a.a.

蛋白主名

其他名称

RNA cytosine C(5)-methyltransferase NSUN2

5-methycytoisine methyltransferase

NSUN2 蛋白互作信息

分类	蛋白名称	蛋白编号	互作蛋白	互作蛋白种属	互作蛋白编号	实验方法	参考文献
种属内	NSUN2	Q08J23	UBE3A	Homo sapiens	Q05086	Anti Tag CoIP	33961781

种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称

别名

Intellectual Developmental Disorder, Autosomal Recessive 5

MRT5	Mental Retardation, Autosomal Recessive 5
Autosomal Recessive Intellectual Developmental Disorder 5	Mental Retardation, Autosomal Recessive, 5
Mental Retardation, Autosomal Recessive, Type 5

Dubowitz Syndrome

Dubowitz'S Syndrome	Dwarfism-Eczema-Peculiar Facies Syndrome
Intrauterine Growth Restriction, Short Stature, Microcephaly, Mild Intellectual Disability With Behavior Problems, Eczema, And Unusual And Distinctive Faci

Autosomal Recessive Non-Syndromic Intellectual Disability

Ar-Nsid

Ns-Arid

Glycogen Storage Disease Ixc

GSD9C	Glycogen Storage Disease Type Ixc
Gsd Ixc	Glycogen Storage Disease Type 9c
Glycogenosis Type 9c	Glycogenosis Type Ixc
Gsd Type 9c	Gsd Type Ixc
Glycogen Storage Disease 9c	Alg
Autosomal Liver Glycogenosis	Gsd-Ixc
Storage Disease, Glycogen, Type Ixc

Cardiomyopathy, Familial Restrictive, 1

RCM1	Restrictive Cardiomyopathy 1
Rcm	Familial Restrictive Cardiomyopathy 1
Cardiomyopathy, Familial Restrictive 1	Cardiomyopathy, Restrictive, Familial, Type 1
Rcm-1

Non-Syndromic X-Linked Intellectual Disability

X-Linked Non-Syndromic Intellectual Disability	Non-Specific X-Linked Mental Retardation
X-Linked Non-Specific Intellectual Disability

Autosomal Recessive Intellectual Developmental Disorder

Mental Retardation, Autosomal Recessive	Autosomal Recessive Mental Retardation
Autosomal Recessive Non-Syndromic Mental Retardation	Autosomal Recessive Non-Syndromic Intellectual Disability

Williams-Beuren Syndrome

Williams Syndrome	WBS
Wms	Deletion 7q11.23
Monosomy 7q11.23	Chromosome 7q11.23 Deletion Syndrome, 1.5- To 1.8-Mb
Fanconi Schlesinger Syndrome	Beuren Syndrome
Elfin Facies Syndrome	Elfin Facies With Hypercalcemia
Hypercalcemia-Supravalvar Aortic Stenosis	Ws

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-158301	MY-1B	Inhibitor	99.94%	否
HY-RS29442	Nsun2 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	否
HY-RS09601	NSUN2 Human Pre-designed siRNA Set A	Pre-designed Set	/	否
HY-RS24549	Nsun2 Rat Pre-designed siRNA Set A	Pre-designed Set	/	否

直系同源

种属	基因名	来源	基因 ID
Canis familiaris	NSUN2	VGNC	VGNC:43990
Felis catus	NSUN2	VGNC	VGNC:63892
Mus musculus	NSUN2	MGD	MGI:107252
Macaca mulatta	NSUN2	VGNC	VGNC:75466
Rattus norvegicus	NSUN2	RGD	RGD:1311954
Bos taurus	NSUN2	VGNC	VGNC:32285

MedChemExpress (MCE) 只为有资质的科研机构、医药企业基于科学研究或药证申报的用途提供医药研发服务，不为任何个人或者非科研性质的、非用于药证申报使用等其他用途提供服务。	站点地图隐私声明
沪ICP备15051369号-4 上海工商沪公网安备31011502019417 沪(浦)应急管危经许[2021]201709(QFYS) 营业执照（三证合一）
Copyright © 2013-2025 MedChemExpress. All Rights Reserved.

MedChemExpress (MCE) 只为有资质的科研机构、医药企业基于科学研究或药证申报的用途提供医药研发服务，不为任何个人或者非科研性质的、非用于药证申报使用等其他用途提供服务。

站点地图隐私声明

沪ICP备15051369号-4

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

NSUN2 - NOP2/Sun RNA methyltransferase 2 Gene

关于 NSUN2

功能概要

NSUN2 基因产物(2)

NSUN2 蛋白结构

NSUN2 蛋白互作信息

关联疾病

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z

姓名
邮箱 *

Sorry, but the email address you supplied was invalid.

NSUN2 - NOP2/Sun RNA methyltransferase 2 Gene

关于 NSUN2

功能概要

NSUN2 基因产物(2)

NSUN2 蛋白结构

NSUN2 蛋白互作信息

关联疾病

相关产品

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z