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NSUN2 NOP2/Sun RNA methyltransferase 2 [ Homo sapiens (human) ]

Gene ID: 54888, updated on 17-Dec-2019

Summary

Official Symbol
NSUN2provided by HGNC
Official Full Name
NOP2/Sun RNA methyltransferase 2provided by HGNC
Primary source
HGNC:HGNC:25994
See related
Ensembl:ENSG00000037474 MIM:610916
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MISU; MRT5; SAKI; TRM4
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]
Expression
Ubiquitous expression in lymph node (RPKM 14.3), appendix (RPKM 14.2) and 25 other tissues See more
Orthologs

Genomic context

See NSUN2 in Genome Data Viewer
Location:
5p15.31
Exon count:
19
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (6599239..6633044, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (6599352..6633473, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105374639 Neighboring gene ubiquitin conjugating enzyme E2 Q family like 1 Neighboring gene long intergenic non-protein coding RNA 1018 Neighboring gene steroid 5 alpha-reductase 1 Neighboring gene long intergenic non-protein coding RNA 2102

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Mental retardation, autosomal recessive 5
MedGen: C1970199 OMIM: 611091 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
NHGRI GWA Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Pr55(Gag) gag Interaction of HIV-1 Gag with NOP2/Sun RNA methyltransferase family, member 2 (NSUN2) is identified in a series of six affinity purification/mass spectrometry screens PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ20303

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA binding HDA PubMed 
methyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
tRNA (cytosine-5-)-methyltransferase activity EXP
Inferred from Experiment
more info
PubMed 
tRNA (cytosine-5-)-methyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
tRNA (cytosine-5-)-methyltransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
tRNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
cell division IEA
Inferred from Electronic Annotation
more info
 
hair follicle maturation IEA
Inferred from Electronic Annotation
more info
 
in utero embryonic development IEA
Inferred from Electronic Annotation
more info
 
meiotic cell cycle checkpoint IEA
Inferred from Electronic Annotation
more info
 
spermatid development IEA
Inferred from Electronic Annotation
more info
 
tRNA methylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
tRNA methylation IDA
Inferred from Direct Assay
more info
PubMed 
tRNA modification TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
chromatoid body IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
nucleolus IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
spindle IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
RNA cytosine C(5)-methyltransferase NSUN2
Names
5-methycytoisine methyltransferase
Myc-induced SUN-domain-containing protein
NOL1/NOP2/Sun domain family, member 2
NOP2/Sun RNA methyltransferase family member 2
NOP2/Sun domain family, member 2
mRNA cytosine C(5)-methyltransferase
myc-induced SUN domain-containing protein
substrate of AIM1/Aurora kinase B
tRNA (cytosine(34)-C(5))-methyltransferase
tRNA (cytosine-5-)-methyltransferase NSUN2
tRNA cytosine C(5)-methyltransferase
tRNA methyltransferase 4 homolog
NP_001180384.1
NP_060225.4

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_028215.1 RefSeqGene

    Range
    5317..39122
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001193455.2NP_001180384.1  RNA cytosine C(5)-methyltransferase NSUN2 isoform 2

    See identical proteins and their annotated locations for NP_001180384.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an in-frame coding exon in the 5' region compared to variant 1. This results in a shorter isoform (2) missing an internal protein segment compared to isoform 1.
    Source sequence(s)
    AK298980, BC001041, BF000644, BG387061
    Consensus CDS
    CCDS54832.1
    UniProtKB/Swiss-Prot
    Q08J23
    Related
    ENSP00000420957.1, ENST00000506139.5
    Conserved Domains (2) summary
    TIGR00446
    Location:79394
    nop2p; NOL1/NOP2/sun family putative RNA methylase
    cl17173
    Location:134392
    AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...
  2. NM_017755.6NP_060225.4  RNA cytosine C(5)-methyltransferase NSUN2 isoform 1

    See identical proteins and their annotated locations for NP_060225.4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the predominant transcript and encodes the longer isoform (1).
    Source sequence(s)
    AB255451, BC001041, BF000644
    Consensus CDS
    CCDS3869.1
    UniProtKB/Swiss-Prot
    Q08J23
    Related
    ENSP00000264670.6, ENST00000264670.11
    Conserved Domains (2) summary
    TIGR00446
    Location:78429
    nop2p; NOL1/NOP2/sun family putative RNA methylase
    cl17173
    Location:169427
    AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...

RNA

  1. NR_037947.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an internal exon compared to variant 1. This causes a frame-shift and premature translation termination, rendering this transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AB255451, BC001041
    Related
    ENST00000504374.5

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

    Range
    6599239..6633044 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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