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Aliases for NSUN2 Gene

Aliases for NSUN2 Gene

  • NOP2/Sun RNA Methyltransferase Family Member 2 2 3 5
  • 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
  • MISU 3 4
  • SAKI 3 4
  • TRM4 3 4
  • Mental Retardation, Non-Syndromic, Autosomal Recessive, 5 2
  • TRNA Methyltransferase 4 Homolog (S. Cerevisiae) 2
  • NOP2/Sun RNA Methyltransferase Family, Member 2 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 63
  • EC 2.1.1 63
  • HTrm4 4
  • MRT5 3

External Ids for NSUN2 Gene

Previous HGNC Symbols for NSUN2 Gene

  • MRT5

Previous GeneCards Identifiers for NSUN2 Gene

  • GC05M006654

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 Mental Retardation, Autosomal Recessive 5 and Dubowitz Syndrome. Among its related pathways are Gene Expression and tRNA processing. GO annotations related to this gene include poly(A) RNA binding and tRNA binding.

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

Regulatory Elements for NSUN2 Gene

Enhancers for NSUN2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around NSUN2 on UCSC Golden Path with GeneCards custom track

Promoters for NSUN2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around NSUN2 on UCSC Golden Path with GeneCards custom track

Genomic Location for NSUN2 Gene

Chromosome:
5
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

Genes around NSUN2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NSUN2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NSUN2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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.
  • Ubiquitination at Lys 46, Lys 144, Lys 257, Lys 356, Lys 577, Lys 650, Lys 654, and Lys 660
  • Modification sites at PhosphoSitePlus

Other Protein References for NSUN2 Gene

Domains & Families for NSUN2 Gene

Gene Families for NSUN2 Gene

Graphical View of Domain Structure for InterPro Entry

Q08J23

UniProtKB/Swiss-Prot:

NSUN2_HUMAN :
  • Belongs to the class I-like SAM-binding methyltransferase superfamily. RsmB/NOP family. TRM4 subfamily.
Family:
  • Belongs to the class I-like SAM-binding methyltransferase superfamily. RsmB/NOP family. TRM4 subfamily.
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: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

Human Phenotype Ontology for NSUN2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for NSUN2 Gene

MGI Knock Outs for NSUN2:

Animal Model Products

No data available for Transcription Factor Targets 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:0005737 cytoplasm IDA 17071714
genes like me logo Genes that share ontologies with NSUN2: view

Pathways & Interactions for NSUN2 Gene

genes like me logo Genes that share pathways with NSUN2: view

Pathways by source for NSUN2 Gene

1 BioSystems pathway for NSUN2 Gene

SIGNOR curated interactions for NSUN2 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for NSUN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008033 tRNA processing TAS --
GO:0030488 tRNA methylation IDA 17071714
GO:0033313 meiotic cell cycle checkpoint IEA --
genes like me logo Genes that share ontologies with NSUN2: view

Drugs & Compounds for NSUN2 Gene

(2) Drugs for NSUN2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
S-Adenosylmethionine Approved Nutra 0
s-adenosylhomocysteine Experimental Pharma 0

(1) Additional Compounds for NSUN2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
5-methylcytosine
  • 4-Amino-5-methyl-2-(1H)-Pyrimidinone
  • 4-Amino-5-methyl-2-pyrimidinol
  • 5-Methyl-Cytosine
  • 5-Methylcytosine
  • 5-Methylcytosine>96
554-01-8
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

Protein differential expression in normal tissues from HIPED for NSUN2 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (12.4), Lymph node (11.6), and Nasal epithelium (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with NSUN2: view

Protein tissue co-expression partners for NSUN2 Gene

- Elite partner

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for NSUN2 Gene

Orthologs for NSUN2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for NSUN2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia NSUN2 35
  • 80.39 (n)
  • 84.75 (a)
NSUN2 36
  • 82 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NSUN2 35
  • 85.69 (n)
  • 89.65 (a)
NSUN2 36
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Nsun2 35
  • 83.33 (n)
  • 88.81 (a)
Nsun2 16
Nsun2 36
  • 88 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia NSUN2 35
  • 99.17 (n)
  • 99.48 (a)
NSUN2 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Nsun2 35
  • 83.2 (n)
  • 87.47 (a)
oppossum
(Monodelphis domestica)
Mammalia NSUN2 36
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 53 (a)
OneToMany
-- 36
  • 76 (a)
OneToMany
chicken
(Gallus gallus)
Aves NSUN2 35
  • 74.77 (n)
  • 80.06 (a)
NSUN2 36
  • 70 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NSUN2 36
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nsun2 35
  • 70.69 (n)
  • 77.79 (a)
Str.20500 35
zebrafish
(Danio rerio)
Actinopterygii nsun2 35
  • 67.1 (n)
  • 72.53 (a)
wufc65a08 35
nsun2 36
  • 69 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002504 35
  • 50.9 (n)
  • 47.31 (a)
fruit fly
(Drosophila melanogaster)
Insecta Nsun2 35
  • 51.88 (n)
  • 46.85 (a)
Nsun2 36
  • 42 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea Y48G8AL.5 35
  • 50.12 (n)
  • 41.61 (a)
Y48G8AL.5 36
  • 37 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR179C 35
  • 50.38 (n)
  • 41.4 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F12562g 35
  • 50.32 (n)
  • 42.72 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes NCL1 35
  • 48.44 (n)
  • 39.56 (a)
NCL1 36
  • 36 (a)
OneToOne
NCL1 38
thale cress
(Arabidopsis thaliana)
eudicotyledons AT2G22400 35
  • 51.58 (n)
  • 43.14 (a)
rice
(Oryza sativa)
Liliopsida Os.5681 35
Os09g0471900 35
  • 51.76 (n)
  • 41.68 (a)
corn
(Zea mays)
Liliopsida Zm.14052 35
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2476 35
bread mold
(Neurospora crassa)
Ascomycetes NCU05301 35
  • 46.93 (n)
  • 40.21 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC17D4.04 35
  • 50 (n)
  • 41.52 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2529 36
  • 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
rs2303708 - 6,604,216(-) AAGAT(A/G)TTAAG nc-transcript-variant, reference, missense
VAR_068530 Mental retardation, autosomal recessive 5 (MRT5)
rs714712 -- 6,608,228(-) CGTGT(G/T)CCCTC intron-variant
rs714713 -- 6,608,248(-) CTGAG(G/T)TTGGA intron-variant
rs720846 -- 6,607,803(+) GGGTA(C/T)GAATT 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

Variation tolerance for NSUN2 Gene

Residual Variation Intolerance Score: 5.95% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.71; 66.23% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NSUN2 Gene

Human Gene Mutation Database (HGMD)
NSUN2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NSUN2 Gene

Disorders for NSUN2 Gene

MalaCards: The human disease database

(5) MalaCards diseases for NSUN2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
mental retardation, autosomal recessive 5
  • mrt5
dubowitz syndrome
  • dubowitz's syndrome
autosomal recessive non-syndromic intellectual disability
  • autosomal recessive mental retardation
dirofilariasis
  • dirofilaria infectious disease
autosomal recessive hypophosphatemic rickets
  • arhr
- elite association - COSMIC cancer census association via MalaCards
Search NSUN2 in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for NSUN2

Genetic Association Database (GAD)
NSUN2
Human Genome Epidemiology (HuGE) Navigator
NSUN2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NSUN2
genes like me logo Genes that share disorders with NSUN2: view

No data available for Genatlas for NSUN2 Gene

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 67
  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
  3. Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. (PMID: 25921289) Emdal K.B. … Olsen J.V. (Sci Signal 2015) 3
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  5. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3

Products for NSUN2 Gene

Sources for NSUN2 Gene

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