NSUN2 - NOP2/Sun RNA methyltransferase 2 Gene

Homo sapiens

Also known as MISU; MRT5; SAKI; TRM4

Gene ID: 54888 | Gene type: protein coding

About 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.

Summary

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 Products(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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables mRNA (cytidine-5-)-methyltransferase activity	IDA IDA: Inferred from direct assay	22395603	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	33961781	GOA
enables tRNA (cytidine-5-)-methyltransferase activity	EXP EXP: Inferred from Experiment	17071714	GOA
enables tRNA (cytidine-5-)-methyltransferase activity	IDA IDA: Inferred from direct assay	17071714	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in mRNA processing	IDA IDA: Inferred from direct assay	22395603	GOA
involved in regulation of mRNA export from nucleus	IDA IDA: Inferred from direct assay	28418038	GOA
involved in tRNA methylation	IDA IDA: Inferred from direct assay	17071714	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	17071714	GOA
located in extracellular exosome	IDA IDA: Inferred from direct assay	28341602	GOA
located in mitochondrion	IDA IDA: Inferred from direct assay	31276587	GOA
located in nucleolus	IDA IDA: Inferred from direct assay	17071714	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

NSUN2 Protein Structure

Methyltr_RsmB-F

0
200
400
600
767 a.a.

Protein Preferred Names

Protein Names

RNA cytosine C(5)-methyltransferase NSUN2

5-methycytoisine methyltransferase

NSUN2 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	NSUN2	Q08J23	UBE3A	Homo sapiens	Q05086	Anti Tag CoIP	33961781

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

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

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

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-158301	MY-1B	Inhibitor	99.94%	Unkown
HY-RS09601	NSUN2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	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

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