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.[pro... See more...

Aliases for NSUN2 Gene

Aliases for NSUN2 Gene

  • NOP2/Sun RNA Methyltransferase 2 2 3 5
  • RNA Cytosine C(5)-Methyltransferase NSUN2 3 4
  • Myc-Induced SUN Domain-Containing Protein 3 4
  • Myc-Induced SUN-Domain-Containing Protein 2 3
  • NOL1/NOP2/Sun Domain Family, Member 2 2 3
  • MRNA Cytosine C(5)-Methyltransferase 3 4
  • TRNA Cytosine C(5)-Methyltransferase 3 4
  • Substrate Of AIM1/Aurora Kinase B 3 4
  • NOP2/Sun Domain Family, Member 2 2 3
  • TRNA Methyltransferase 4 Homolog 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(34)-C(5))-Methyltransferase 3
  • TRNA (Cytosine-5-)-Methyltransferase NSUN2 3
  • NOL1/NOP2/Sun Domain Family Member 2 4
  • 5-Methycytoisine Methyltransferase 3
  • EC 2.1.1.203 4
  • EC 2.1.1.29 52
  • EC 2.1.1.- 4
  • EC 2.1.1 52
  • HTrm4 4
  • MISU 3
  • MRT5 3
  • Misu 4

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 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 Aurora B signaling. Gene Ontology (GO) annotations related to this gene include tRNA binding. An important paralog of this gene is NSUN4.

UniProtKB/Swiss-Prot Summary for NSUN2 Gene

  • RNA cytosine C(5)-methyltransferase that methylates cytosine to 5-methylcytosine (m5C) in various RNAs, such as tRNAs, mRNAs and some long non-coding RNAs (lncRNAs) (PubMed:17071714, PubMed:22995836, PubMed:31358969, PubMed:31199786). Involved in various processes, such as epidermal stem cell differentiation, testis differentiation and maternal to zygotic transition during early development: acts by increasing protein synthesis; cytosine C(5)-methylation promoting tRNA stability and preventing mRNA decay (PubMed:31199786). 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 (PubMed:17071714, PubMed:22995836, PubMed:31199786). tRNA methylation is required generation of RNA fragments derived from tRNAs (tRFs) (PubMed:31199786). Also mediates C(5)-methylation of mitochondrial tRNAs (PubMed:31276587). Catalyzes cytosine C(5)-methylation of mRNAs, leading to stabilize them and prevent mRNA decay: mRNA stabilization involves YBX1 that specifically recognizes and binds m5C-modified transcripts (PubMed:22395603, PubMed:31358969). Cytosine C(5)-methylation of mRNAs also regulates mRNA export: methylated transcripts are specifically recognized by THOC4/ALYREF, which mediates mRNA nucleo-cytoplasmic shuttling (PubMed:28418038). Also mediates cytosine C(5)-methylation of non-coding RNAs, such as vault RNAs (vtRNAs), promoting their processing into regulatory small RNAs (PubMed:23871666). Cytosine C(5)-methylation of vtRNA VTRNA1.1 promotes its processing into small-vault RNA4 (svRNA4) and regulates epidermal differentiation (PubMed:31186410). May act downstream of Myc to regulate epidermal cell growth and proliferation (By similarity). Required for proper spindle assembly and chromosome segregation, independently of its methyltransferase activity (PubMed:19596847).

Additional gene information for NSUN2 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NSUN2 Gene

Genomics for NSUN2 Gene

GeneHancer (GH) Regulatory Elements for NSUN2 Gene

Promoters and enhancers for NSUN2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05J006631 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 549.3 -1.8 -1777 7.9 ZBTB40 ZNF217 SIN3A NRF1 MYC POLR2G USF1 GTF2E2 PHF8 ZFX NSUN2 SRD5A1 lnc-PAPD7-7 TENT4A LINC02102 LINC02145 LINC01018 MED10
GH05J006448 Promoter/Enhancer 1.6 EPDnew FANTOM5 Ensembl 35.7 +182.9 182859 4.2 ZNF300 ZNF639 ZIC2 ZBTB10 ZBTB26 TSC22D4 ATF2 CTBP1 MXI1 EZH2 UBE2QL1 TENT4A NSUN2 LINC02102 MED10 LINC02145 LOC105374639
GH05J006711 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 12.8 -80.7 -80725 5.4 HNRNPK EP300 ZSCAN5C SIN3A TCF12 NRF1 POLR2G USF1 PHF8 ZFX TENT4A LINC02102 LINC02145 NSUN2 SRD5A1 piR-34234
GH05J006606 Enhancer 0.4 Ensembl 48.4 +26.3 26259 1 POLR2A MYC MAX lnc-MED10-24 NSUN2 lnc-MED10-25
GH05J006496 Enhancer 1.2 Ensembl ENCODE dbSUPER 12.7 +137.2 137159 2.4 SP1 EP300 TCF7 FOXA1 RELA MEF2C RCOR1 SKI TRIM22 ZBTB26 NSUN2 ENSG00000271230 lnc-NSUN2-2 LOC105374639 UBE2QL1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NSUN2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NSUN2

Top Transcription factor binding sites by QIAGEN in the NSUN2 gene promoter:
  • c-Myc
  • COUP
  • COUP-TF
  • COUP-TF1
  • GATA-6
  • HNF-4alpha1
  • HNF-4alpha2
  • Max1
  • Pax-5

Genomic Locations for NSUN2 Gene

Genomic Locations for NSUN2 Gene
chr5:6,599,239-6,633,360
(GRCh38/hg38)
Size:
34,122 bases
Orientation:
Minus strand
chr5:6,599,352-6,633,473
(GRCh37/hg19)
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:
    RNA cytosine C(5)-methyltransferase NSUN2
    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=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAB14762.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for NSUN2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NSUN2 Gene

Selected DME Specific Peptides for NSUN2 Gene

Q08J23:
  • LLTQENPF
  • VYSTCSL
  • ISRQEAVSMIPP
  • QLAEGGRM
  • NSEKMKVINTGIKV
  • TQIRPTMFP
  • QNTGGFF
  • LKIVPEG
  • LQCPIVLCGW
  • PPPSKKMKLFGFKEDPFVF
  • APGSKTTQ
  • VLKYEPD

Post-translational modifications for NSUN2 Gene

  • Phosphorylated at Ser-139 by AURKB during mitosis, leading to abolish methyltransferase activity and the interaction with NPM1.
  • Glycosylation at Asn130
  • Ubiquitination at Lys257, Lys46, Lys144, Lys356, Lys577, Lys650, Lys654, and Lys660
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • NSUN2_HUMAN (1859)

Other Protein References for NSUN2 Gene

Domains & Families for NSUN2 Gene

Gene Families for NSUN2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for NSUN2 Gene

Blocks:
  • Bacterial Sun/eukaryotic nucleolar Nop1/Nop2
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for NSUN2 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ58246, highly similar to Homo sapiens NOL1/NOP2/Sun domain family, member 2 (NSUN2), mRNA (B4DQW2_HUMAN)
  • tRNA methyltransferase 4 homolog (NSUN2_HUMAN)

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 Function:
RNA cytosine C(5)-methyltransferase that methylates cytosine to 5-methylcytosine (m5C) in various RNAs, such as tRNAs, mRNAs and some long non-coding RNAs (lncRNAs) (PubMed:17071714, PubMed:22995836, PubMed:31358969, PubMed:31199786). Involved in various processes, such as epidermal stem cell differentiation, testis differentiation and maternal to zygotic transition during early development: acts by increasing protein synthesis; cytosine C(5)-methylation promoting tRNA stability and preventing mRNA decay (PubMed:31199786). 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 (PubMed:17071714, PubMed:22995836, PubMed:31199786). tRNA methylation is required generation of RNA fragments derived from tRNAs (tRFs) (PubMed:31199786). Also mediates C(5)-methylation of mitochondrial tRNAs (PubMed:31276587). Catalyzes cytosine C(5)-methylation of mRNAs, leading to stabilize them and prevent mRNA decay: mRNA stabilization involves YBX1 that specifically recognizes and binds m5C-modified transcripts (PubMed:22395603, PubMed:31358969). Cytosine C(5)-methylation of mRNAs also regulates mRNA export: methylated transcripts are specifically recognized by THOC4/ALYREF, which mediates mRNA nucleo-cytoplasmic shuttling (PubMed:28418038). Also mediates cytosine C(5)-methylation of non-coding RNAs, such as vault RNAs (vtRNAs), promoting their processing into regulatory small RNAs (PubMed:23871666). Cytosine C(5)-methylation of vtRNA VTRNA1.1 promotes its processing into small-vault RNA4 (svRNA4) and regulates epidermal differentiation (PubMed:31186410). May act downstream of Myc to regulate epidermal cell growth and proliferation (By similarity). Required for proper spindle assembly and chromosome segregation, independently of its methyltransferase activity (PubMed:19596847).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=cytidine(48) in tRNA + S-adenosyl-L-methionine = 5-methylcytidine(48) in tRNA + H(+) + S-adenosyl-L-homocysteine; Xref=Rhea:RHEA:42948, Rhea:RHEA-COMP:10293, Rhea:RHEA-COMP:10297, ChEBI:CHEBI:15378, ChEBI:CHEBI:57856, ChEBI:CHEBI:59789, ChEBI:CHEBI:74483, ChEBI:CHEBI:82748; Evidence=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:42949; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=cytidine(49) in tRNA + S-adenosyl-L-methionine = 5-methylcytidine(49) in tRNA + H(+) + S-adenosyl-L-homocysteine; Xref=Rhea:RHEA:42952, Rhea:RHEA-COMP:10294, Rhea:RHEA-COMP:10385, ChEBI:CHEBI:15378, ChEBI:CHEBI:57856, ChEBI:CHEBI:59789, ChEBI:CHEBI:74483, ChEBI:CHEBI:82748; Evidence=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:42953; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=cytidine(50) in tRNA + S-adenosyl-L-methionine = 5-methylcytidine(50) in tRNA + H(+) + S-adenosyl-L-homocysteine; Xref=Rhea:RHEA:61488, Rhea:RHEA-COMP:15838, Rhea:RHEA-COMP:15839, ChEBI:CHEBI:15378, ChEBI:CHEBI:57856, ChEBI:CHEBI:59789, ChEBI:CHEBI:74483, ChEBI:CHEBI:82748; Evidence=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:61489; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=cytidine(34) in tRNA precursor + S-adenosyl-L-methionine = 5-methylcytidine(34) in tRNA precursor + H(+) + S-adenosyl-L-homocysteine; Xref=Rhea:RHEA:42940, Rhea:RHEA-COMP:10291, Rhea:RHEA-COMP:10295, ChEBI:CHEBI:15378, ChEBI:CHEBI:57856, ChEBI:CHEBI:59789, ChEBI:CHEBI:74483, ChEBI:CHEBI:82748; EC=2.1.1.203; Evidence=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:42941; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a cytidine in mRNA + S-adenosyl-L-methionine = a 5-methylcytidine in mRNA + H(+) + S-adenosyl-L-homocysteine; Xref=Rhea:RHEA:61464, Rhea:RHEA-COMP:15145, Rhea:RHEA-COMP:15826, ChEBI:CHEBI:15378, ChEBI:CHEBI:57856, ChEBI:CHEBI:59789, ChEBI:CHEBI:74483, ChEBI:CHEBI:82748; Evidence={ECO:0000269 PubMed:22395603, ECO:0000269 PubMed:28418038, ECO:0000269 PubMed:31358969}; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:61465; Evidence={ECO:0000269 PubMed:22395603, ECO:0000269 PubMed:28418038, ECO:0000269 PubMed:31358969};.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by magnesium ions.

Enzyme Numbers (IUBMB) for NSUN2 Gene

Phenotypes From GWAS Catalog for NSUN2 Gene

Gene Ontology (GO) - Molecular Function for NSUN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000049 tRNA binding IBA 21873635
GO:0003723 RNA binding IEA,HDA 22658674
GO:0008168 methyltransferase activity IBA 21873635
GO:0016428 tRNA (cytosine-5-)-methyltransferase activity IBA,IDA 17071714
GO:0016740 transferase activity IEA --
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:
  • Nsun2 Nsun2<tm1a(EUCOMM)Wtsi>

Clone 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. Mitochondrion. Cytoplasm, cytoskeleton, spindle. Secreted, extracellular exosome. Note=Concentrated in the nucleolus during interphase and translocates to the spindle during mitosis as an RNA-protein complex that includes 18S ribosomal RNA (PubMed:19596847). In testis, localizes to the chromatoid body (By similarity). {ECO:0000250 UniProtKB:Q1HFZ0, ECO:0000269 PubMed:19596847}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NSUN2 gene
Compartment Confidence
nucleus 5
cytoskeleton 4
mitochondrion 4
extracellular 3
plasma membrane 1
endosome 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for NSUN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA 21873635
GO:0005654 nucleoplasm TAS --
GO:0005730 nucleolus IEA,IDA 17071714
GO:0005737 cytoplasm IDA,IBA 17071714
GO:0005819 spindle IEA --
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:0001701 in utero embryonic development IEA --
GO:0006400 tRNA modification TAS --
GO:0007049 cell cycle IEA --
GO:0007286 spermatid development IEA --
GO:0008033 tRNA processing IEA --
genes like me logo Genes that share ontologies with NSUN2: view

Drugs & Compounds for NSUN2 Gene

(1) Drugs for NSUN2 Gene - From: HMDB

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

(2) 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
  • 4-amino-5-Methyl-2-(1H)-pyrimidinone
  • 5-Methyl-cytosine
  • 5-Methylcytosine>96
554-01-8
s-adenosylmethionine
  • (3S)-5'-[(3-amino-3-Carboxypropyl)methylsulfonio]-5'-deoxyadenosine, inner salt
  • [1-(Adenin-9-yl)-1,5-dideoxy-beta-D-ribofuranos-5-yl][(3S)-3-amino-3-carboxypropyl](methyl)sulfonium
  • Acylcarnitine
  • AdoMet
  • S-(5'-Deoxyadenosin-5'-yl)-L-methionine
485-80-3
genes like me logo Genes that share compounds with NSUN2: view

Transcripts for NSUN2 Gene

mRNA/cDNA for NSUN2 Gene

2 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

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

Expression for NSUN2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for NSUN2 Gene



Protein tissue co-expression partners for NSUN2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NSUN2

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.

Evidence on tissue expression from TISSUES for NSUN2 Gene

  • Liver(4.3)
  • Lung(4.2)
  • Kidney(2)
  • Nervous system(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for NSUN2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • middle ear
  • mouth
  • neck
  • nose
  • outer ear
  • pharynx
  • scalp
  • skull
  • tongue
  • tooth
  • vocal cord
Thorax:
  • chest wall
  • clavicle
  • esophagus
  • heart
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • abdominal wall
  • adrenal gland
  • intestine
  • kidney
  • large intestine
  • small intestine
  • stomach
Pelvis:
  • anus
  • pelvis
  • penis
  • rectum
  • testicle
  • urethra
  • vulva
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • hair
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • spinal cord
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with NSUN2: view

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
chimpanzee
(Pan troglodytes)
Mammalia NSUN2 31 30
  • 99.17 (n)
OneToOne
dog
(Canis familiaris)
Mammalia NSUN2 31 30
  • 85.69 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Nsun2 17 31 30
  • 83.33 (n)
rat
(Rattus norvegicus)
Mammalia Nsun2 30
  • 83.2 (n)
cow
(Bos Taurus)
Mammalia NSUN2 31 30
  • 80.39 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 76 (a)
OneToMany
-- 31
  • 53 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia NSUN2 31
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves NSUN2 31 30
  • 74.77 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NSUN2 31
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nsun2 30
  • 70.69 (n)
Str.20500 30
zebrafish
(Danio rerio)
Actinopterygii nsun2 31 30
  • 67.1 (n)
OneToOne
wufc65a08 30
fruit fly
(Drosophila melanogaster)
Insecta Nsun2 31 30
  • 51.88 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002504 30
  • 50.9 (n)
worm
(Caenorhabditis elegans)
Secernentea Y48G8AL.5 31 30
  • 50.12 (n)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR179C 30
  • 50.38 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F12562g 30
  • 50.32 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes NCL1 33 31 30
  • 48.44 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT2G22400 30
  • 51.58 (n)
rice
(Oryza sativa)
Liliopsida Os09g0471900 30
  • 51.76 (n)
Os.5681 30
corn
(Zea mays)
Liliopsida Zm.14052 30
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC17D4.04 30
  • 50 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU05301 30
  • 46.93 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2529 31
  • 46 (a)
OneToOne
Cin.2476 30
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2476 30
Species where no ortholog for NSUN2 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for NSUN2: view image

Paralogs for NSUN2 Gene

Paralogs for NSUN2 Gene

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

Variants for NSUN2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NSUN2 Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
664755 Pathogenic: not provided 6,609,844(-) C/T NONSENSE,NON_CODING_TRANSCRIPT_VARIANT
720791 Likely Benign: not provided 6,625,676(-) A/G INTRON_VARIANT
722336 Benign: not provided 6,607,250(-) A/G NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
731353 Likely Benign: not provided 6,609,926(-) A/AAT INTRON_VARIANT
733651 Benign: not provided 6,600,007(-) G/A NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for NSUN2 Gene

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

Variant ID Type Subtype PubMed ID
esv2503876 CNV insertion 19546169
esv2729690 CNV deletion 23290073
esv2729691 CNV deletion 23290073
esv3894117 CNV gain 25118596

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)

Additional Variant Information for NSUN2 Gene

Human Gene Mutation Database (HGMD)
NSUN2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NSUN2

SNP Genotyping and Copy Number Assay Products

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

Disorders for NSUN2 Gene

MalaCards: The human disease database

(8) MalaCards diseases for NSUN2 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, 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
glycogen storage disease ixc
  • gsd9c
dirofilariasis
  • dirofilaria infectious disease
- 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.

Additional Disease Information for NSUN2

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

No data available for Genatlas for NSUN2 Gene

Publications for NSUN2 Gene

  1. 5-methylcytosine promotes mRNA export - NSUN2 as the methyltransferase and ALYREF as an m5C reader. (PMID: 28418038) Yang X … Yang YG (Cell research 2017) 2 3 4 54
  2. Mutations in NSUN2 cause autosomal-recessive intellectual disability. (PMID: 22541559) Abbasi-Moheb L … Kuss AW (American journal of human genetics 2012) 2 3 4 54
  3. 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 research 2006) 2 3 4 54
  4. Mammalian NSUN2 introduces 5-methylcytidines into mitochondrial tRNAs. (PMID: 31287866) Shinoda S … Suzuki T (Nucleic acids research 2019) 3 4 54
  5. NSUN2 introduces 5-methylcytosines in mammalian mitochondrial tRNAs. (PMID: 31276587) Van Haute L … Minczuk M (Nucleic acids research 2019) 3 4 54

Products for NSUN2 Gene

Sources for NSUN2 Gene