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Aliases for NSUN2 Gene

Aliases for NSUN2 Gene

  • NOP2/Sun RNA Methyltransferase Family, Member 2 2 3
  • MISU 3 4 6
  • SAKI 3 4 6
  • TRM4 3 4 6
  • Myc-Induced SUN-Domain-Containing Protein 2 3
  • Myc-Induced SUN Domain-Containing Protein 3 4
  • NOL1/NOP2/Sun Domain Family, Member 2 2 3
  • Substrate Of AIM1/Aurora Kinase B 3 4
  • NOP2/Sun Domain Family, Member 2 2 3
  • TRNA Methyltransferase 4 Homolog 3 4
  • MRT5 3 6
  • Mental Retardation, Non-Syndromic, Autosomal Recessive, 5 2
  • TRNA Methyltransferase 4 Homolog (S. Cerevisiae) 2
  • TRNA (Cytosine(34)-C(5))-Methyltransferase 3
  • TRNA (Cytosine-5-)-Methyltransferase NSUN2 3
  • NOL1/NOP2/Sun Domain Family Member 2 4
  • TRNA (Cytosine-5-)-Methyltransferase 4
  • 5-Methycytoisine Methyltransferase 3
  • EC 2.1.1.203 4
  • EC 2.1.1.29 64
  • EC 2.1.1 64
  • HTrm4 4

External Ids for NSUN2 Gene

Previous Symbols for NSUN2 Gene

  • MRT5

Summaries for NSUN2 Gene

Entrez Gene Summary for NSUN2 Gene

  • 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]

GeneCards Summary for NSUN2 Gene

NSUN2 (NOP2/Sun RNA Methyltransferase Family, Member 2) is a Protein Coding gene. Diseases associated with NSUN2 include dirofilariasis and mental retardation, autosomal recessive 5. Among its related pathways are Aurora B signaling. GO annotations related to this gene include tRNA binding and tRNA (cytosine-5-)-methyltransferase activity.

UniProtKB/Swiss-Prot for NSUN2 Gene

  • RNA methyltransferase that methylates tRNAs, and possibly RNA polymerase III transcripts. Methylates cytosine to 5-methylcytosine (m5C) at positions 34 and 48 of intron-containing tRNA(Leu)(CAA) precursors, and at positions 48, 49 and 50 of tRNA(Gly)(GCC) precursors. May act downstream of Myc to regulate epidermal cell growth and proliferation. Required for proper spindle assembly and chromosome segregation, independently of its methyltransferase activity.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NSUN2 Gene

Genomics for NSUN2 Gene

Genomic Location for NSUN2 Gene

Start:
6,599,239 bp from pter
End:
6,633,360 bp from pter
Size:
34,122 bases
Orientation:
Minus strand

Genomic View for NSUN2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for NSUN2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NSUN2 Gene

Regulatory Elements for NSUN2 Gene

Proteins for NSUN2 Gene

  • Protein details for NSUN2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q08J23-NSUN2_HUMAN
    Recommended name:
    tRNA (cytosine(34)-C(5))-methyltransferase
    Protein Accession:
    Q08J23
    Secondary Accessions:
    • A8K529
    • B2RNR4
    • B3KP09
    • B4DQW2
    • G3V1R4
    • Q9BVN4
    • Q9H858
    • Q9NXD9

    Protein attributes for NSUN2 Gene

    Size:
    767 amino acids
    Molecular mass:
    86471 Da
    Quaternary structure:
    • Interacts with NPM1 and NCL during interphase; interaction is disrupted following phosphorylation at Ser-139.
    SequenceCaution:
    • Sequence=BAA91075.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAB14762.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for NSUN2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NSUN2 Gene

Proteomics data for NSUN2 Gene at MOPED

Post-translational modifications for NSUN2 Gene

  • Phosphorylated at Ser-139 by AURKB during mitosis, leading to abolish methyltransferase activity and the interaction with NPM1.
  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys46, Lys144, Lys257, Lys356, Lys577, Lys650, Lys654, and Lys660

Other Protein References for NSUN2 Gene

Domains for NSUN2 Gene

Gene Families for NSUN2 Gene

HGNC:
  • NSUN :NOP2/Sun domain containing

UniProtKB/Swiss-Prot:

NSUN2_HUMAN
Family:
  • Belongs to the class I-like SAM-binding methyltransferase superfamily. RsmB/NOP family. TRM4 subfamily.:
    • Q08J23
genes like me logo Genes that share domains with NSUN2: view

Function for NSUN2 Gene

Molecular function for NSUN2 Gene

UniProtKB/Swiss-Prot CatalyticActivity: S-adenosyl-L-methionine + cytosine(34) in tRNA precursor = S-adenosyl-L-homocysteine + 5-methylcytosine(34) in tRNA precursor.
UniProtKB/Swiss-Prot EnzymeRegulation: Inhibited by magnesium ions.
UniProtKB/Swiss-Prot Function: RNA methyltransferase that methylates tRNAs, and possibly RNA polymerase III transcripts. Methylates cytosine to 5-methylcytosine (m5C) at positions 34 and 48 of intron-containing tRNA(Leu)(CAA) precursors, and at positions 48, 49 and 50 of tRNA(Gly)(GCC) precursors. May act downstream of Myc to regulate epidermal cell growth and proliferation. Required for proper spindle assembly and chromosome segregation, independently of its methyltransferase activity.

Enzyme Numbers (IUBMB) for NSUN2 Gene

Gene Ontology (GO) - Molecular Function for NSUN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000049 tRNA binding IEA --
GO:0008168 methyltransferase activity --
GO:0016428 tRNA (cytosine-5-)-methyltransferase activity IDA 17071714
GO:0044822 poly(A) RNA binding IDA 22658674
genes like me logo Genes that share ontologies with NSUN2: view
genes like me logo Genes that share phenotypes with NSUN2: view

No data available for Animal Models , Transcription Factor Targeting and HOMER Transcription for NSUN2 Gene

Localization for NSUN2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NSUN2 Gene

Nucleus, nucleolus. Cytoplasm, cytoskeleton, spindle. Note=Concentrated in the nucleolus during interphase and translocates to the spindle during mitosis as an RNA-protein complex that includes 18S ribosomal RNA.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for NSUN2 Gene COMPARTMENTS Subcellular localization image for NSUN2 gene
Compartment Confidence
cytoskeleton 5
nucleus 5
plasma membrane 1

Gene Ontology (GO) - Cellular Components for NSUN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005730 nucleolus IDA 17071714
GO:0005737 cytoplasm IDA 17071714
GO:0005819 spindle IEA --
GO:0005856 cytoskeleton --
genes like me logo Genes that share ontologies with NSUN2: view

Pathways for NSUN2 Gene

SuperPathways for NSUN2 Gene

Superpath Contained pathways
1 Aurora B signaling
genes like me logo Genes that share pathways with NSUN2: view

Pathways by source for NSUN2 Gene

1 BioSystems pathway for NSUN2 Gene

Gene Ontology (GO) - Biological Process for NSUN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007067 mitotic nuclear division IEA --
GO:0030488 tRNA methylation IDA 17071714
GO:0051301 cell division IEA --
genes like me logo Genes that share ontologies with NSUN2: view

Compounds for NSUN2 Gene

(2) HMDB Compounds for NSUN2 Gene

Compound Synonyms Cas Number PubMed IDs
5-Methylcytosine
  • 4-Amino-5-methyl-2-pyrimidinol
554-01-8
S-Adenosylmethionine
  • (3S)-5'-[(3-amino-3-carboxypropyl)methylsulfonio]-5'-deoxyadenosine
29908-03-0
genes like me logo Genes that share compounds with NSUN2: view

Transcripts for NSUN2 Gene

Unigene Clusters for NSUN2 Gene

NOP2/Sun RNA methyltransferase family, member 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for NSUN2 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14a · 14b ^ 15 ^ 16a · 16b ^ 17 ^ 18 ^ 19 ^
SP1: - - -
SP2: - -
SP3: -
SP4: - -
SP5: - - -
SP6: -
SP7:
SP8:

ExUns: 20 ^ 21a · 21b · 21c
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:

Relevant External Links for NSUN2 Gene

GeneLoc Exon Structure for
NSUN2
ECgene alternative splicing isoforms for
NSUN2

Expression for NSUN2 Gene

mRNA expression in normal human tissues for NSUN2 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for NSUN2 Gene

SOURCE GeneReport for Unigene cluster for NSUN2 Gene Hs.481526

mRNA Expression by UniProt/SwissProt for NSUN2 Gene

Q08J23-NSUN2_HUMAN
Tissue specificity: Expressed in adult and fetal brain and in lymphoblastoid cells.
genes like me logo Genes that share expressions with NSUN2: view

Orthologs for NSUN2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for NSUN2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NSUN2 36
  • 99.17 (n)
  • 99.48 (a)
NSUN2 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia NSUN2 36
  • 80.39 (n)
  • 84.75 (a)
NSUN2 37
  • 82 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NSUN2 36
  • 85.69 (n)
  • 89.65 (a)
NSUN2 37
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Nsun2 36
  • 83.33 (n)
  • 88.81 (a)
Nsun2 16
Nsun2 37
  • 88 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NSUN2 37
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 53 (a)
OneToMany
-- 37
  • 76 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Nsun2 36
  • 83.2 (n)
  • 87.47 (a)
chicken
(Gallus gallus)
Aves NSUN2 36
  • 74.77 (n)
  • 80.06 (a)
NSUN2 37
  • 70 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NSUN2 37
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nsun2 36
  • 70.69 (n)
  • 77.79 (a)
Str.20500 36
zebrafish
(Danio rerio)
Actinopterygii nsun2 36
  • 67.1 (n)
  • 72.53 (a)
nsun2 37
  • 69 (a)
OneToOne
wufc65a08 36
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002504 36
  • 50.9 (n)
  • 47.31 (a)
fruit fly
(Drosophila melanogaster)
Insecta Nsun2 36
  • 51.88 (n)
  • 46.85 (a)
Nsun2 37
  • 42 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea Y48G8AL.5 36
  • 50.12 (n)
  • 41.61 (a)
Y48G8AL.5 37
  • 37 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR179C 36
  • 50.38 (n)
  • 41.4 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes NCL1 36
  • 48.44 (n)
  • 39.56 (a)
NCL1 37
  • 36 (a)
OneToOne
NCL1 39
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F12562g 36
  • 50.32 (n)
  • 42.72 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT2G22400 36
  • 51.58 (n)
  • 43.14 (a)
corn
(Zea mays)
Liliopsida Zm.14052 36
rice
(Oryza sativa)
Liliopsida Os.5681 36
Os09g0471900 36
  • 51.76 (n)
  • 41.68 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU05301 36
  • 46.93 (n)
  • 40.21 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC17D4.04 36
  • 50 (n)
  • 41.52 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2476 36
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2529 37
  • 46 (a)
OneToOne
Species with no ortholog for NSUN2:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for NSUN2 Gene

ENSEMBL:
Gene Tree for NSUN2 (if available)
TreeFam:
Gene Tree for NSUN2 (if available)

Paralogs for NSUN2 Gene

No data available for Paralogs for NSUN2 Gene

Variants for NSUN2 Gene

Sequence variations from dbSNP and Humsavar for NSUN2 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type MAF
rs193742 -- 6,630,913(+) AAGGT(A/G)AAAAC intron-variant
rs484418 -- 6,608,764(+) GCCAC(A/G)AGCCT intron-variant
rs502272 -- 6,608,421(-) CCGTG(A/T)TCTGT intron-variant
rs506416 -- 6,605,158(-) TAGCG(C/T)TGGCT intron-variant
rs507067 -- 6,614,298(-) CCTTT(C/T)TTGAT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for NSUN2 Gene

Variant ID Type Subtype PubMed ID
nsv881385 CNV Loss 21882294
esv2729690 CNV Deletion 23290073
esv2729691 CNV Deletion 23290073
nsv880892 CNV Loss 21882294
esv2503876 CNV Insertion 19546169

Relevant External Links for NSUN2 Gene

HapMap Linkage Disequilibrium report
NSUN2
Human Gene Mutation Database (HGMD)
NSUN2

Disorders for NSUN2 Gene

(1) OMIM Diseases for NSUN2 Gene (610916)

UniProtKB/Swiss-Prot

NSUN2_HUMAN
  • Mental retardation, autosomal recessive 5 (MRT5) [MIM:611091]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. {ECO:0000269 PubMed:22541559, ECO:0000269 PubMed:22541562}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for NSUN2 Gene

Relevant External Links for NSUN2

Genetic Association Database (GAD)
NSUN2
Human Genome Epidemiology (HuGE) Navigator
NSUN2
genes like me logo Genes that share disorders with NSUN2: view

Publications for NSUN2 Gene

  1. Mutations in NSUN2 cause autosomal-recessive intellectual disability. (PMID: 22541559) Abbasi-Moheb L. … Kuss A.W. (Am. J. Hum. Genet. 2012) 2 3 4
  2. Identification of human tRNA:m5C methyltransferase catalysing intron- dependent m5C formation in the first position of the anticodon of the pre-tRNA Leu (CAA). (PMID: 17071714) Brzezicha B. … Szweykowska-Kulinska Z. (Nucleic Acids Res. 2006) 2 3 4
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  4. Aurora-B regulates RNA methyltransferase NSUN2. (PMID: 17215513) Sakita-Suto S. … Tatsuka M. (Mol. Biol. Cell 2007) 3 4
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 49

Products for NSUN2 Gene

Sources for NSUN2 Gene

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