NSUN2 - NOP2/Sun RNA methyltransferase 2 Gene

Also Known as MISU; MRT5; SAKI; TRM4

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 54888

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	References	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	References	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	References	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	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
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

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
Others	NSUN2	NCBI