• Gene id: 54888

Gene Summary

• Gene Symbol: NSUN2   Gene   UCSC   Ensembl
• Aliases: MISU, MRT5, SAKI, TRM4
• Gene name: NOP2/Sun RNA methyltransferase 2
• Alternate names: RNA cytosine C(5)-methyltransferase NSUN2, 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),
• Gene location: 5p15.31 (6633043: 6599238)     Exons: 19     NC_000005.10
• Gene summary(Entrez): 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
• OMIM: 610916

Protein Summary

• Protein general information: Q08J23  
  • Name: RNA cytosine C(5) methyltransferase NSUN2 (EC 2.1.1. ) (Myc induced SUN domain containing protein) (Misu) (NOL1/NOP2/Sun domain family member 2) (Substrate of AIM1/Aurora kinase B) (mRNA cytosine C(5) methyltransferase) (EC 2.1.1. ) (tRNA cytosine C(5) me
  • Length: 767  
  • Mass: 86471
  • Tissue specificity: Expressed in adult and fetal brain and in lymphoblastoid cells. {ECO
• Sequence:

  MGRRSRGRRLQQQQRPEDAEDGAEGGGKRGEAGWEGGYPEIVKENKLFEHYYQELKIVPEGEWGQFMDALREPLP
  ATLRITGYKSHAKEILHCLKNKYFKELEDLEVDGQKVEVPQPLSWYPEELAWHTNLSRKILRKSPHLEKFHQFLV
  SETESGNISRQEAVSMIPPLLLNVRPHHKILDMCAAPGSKTTQLIEMLHADMNVPFPEGFVIANDVDNKRCYLLV
  HQAKRLSSPCIMVVNHDASSIPRLQIDVDGRKEILFYDRILCDVPCSGDGTMRKNIDVWKKWTTLNSLQLHGLQL
  RIATRGAEQLAEGGRMVYSTCSLNPIEDEAVIASLLEKSEGALELADVSNELPGLKWMPGITQWKVMTKDGQWFT
  DWDAVPHSRHTQIRPTMFPPKDPEKLQAMHLERCLRILPHHQNTGGFFVAVLVKKSSMPWNKRQPKLQGKSAETR
  ESTQLSPADLTEGKPTDPSKLESPSFTGTGDTEIAHATEDLENNGSKKDGVCGPPPSKKMKLFGFKEDPFVFIPE
  DDPLFPPIEKFYALDPSFPRMNLLTRTTEGKKRQLYMVSKELRNVLLNNSEKMKVINTGIKVWCRNNSGEEFDCA
  FRLAQEGIYTLYPFINSRIITVSMEDVKILLTQENPFFRKLSSETYSQAKDLAKGSIVLKYEPDSANPDALQCPI
  VLCGWRGKASIRTFVPKNERLHYLRMMGLEVLGEKKKEGVILTNESAASTGQPDNDVTEGQRAGEPNSPDAEEAN
  SPDVTAGCDPAGVHPPR

• Structural information:
  • Interpro: IPR001678  IPR023267  IPR023270  IPR029063  
  • Prosite: PS51686
  • DIP: 52456
  • STRING: ENSP00000264670
• Other Databases: GeneCards:  NSUN2  Malacards:  NSUN2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030488	tRNA methylation	IBA	biological process
GO:0016428	tRNA (cytosine-5-)-methyltransferase activity	IBA	molecular function
GO:0001510	RNA methylation	IBA	biological process
GO:0000049	tRNA binding	IBA	molecular function
GO:0008168	methyltransferase activity	IBA	molecular function
GO:0005737	cytoplasm	IBA	cellular component
GO:0005634	nucleus	IBA	cellular component
GO:0010793	regulation of mRNA export from nucleus	IDA	biological process
GO:0062152	mRNA (cytidine-5-)-methyltransferase activity	IDA	molecular function
GO:0062152	mRNA (cytidine-5-)-methyltransferase activity	IDA	molecular function
GO:0062152	mRNA (cytidine-5-)-methyltransferase activity	IDA	molecular function
GO:0070062	extracellular exosome	IDA	cellular component
GO:0030488	tRNA methylation	IDA	biological process
GO:0016428	tRNA (cytosine-5-)-methyltransferase activity	IDA	molecular function
GO:0080009	mRNA methylation	IDA	biological process
GO:0080009	mRNA methylation	IDA	biological process
GO:0080009	mRNA methylation	IDA	biological process
GO:0005739	mitochondrion	IDA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:2000736	regulation of stem cell differentiation	ISS	biological process
GO:0048820	hair follicle maturation	ISS	biological process
GO:0036416	tRNA stabilization	ISS	biological process
GO:0016428	tRNA (cytosine-5-)-methyltransferase activity	IEA	molecular function
GO:0008168	methyltransferase activity	IEA	molecular function
GO:0000049	tRNA binding	IEA	molecular function
GO:0007283	spermatogenesis	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0032259	methylation	IEA	biological process
GO:0051301	cell division	IEA	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0008033	tRNA processing	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0007049	cell cycle	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0003723	RNA binding	IEA	molecular function
GO:0008168	methyltransferase activity	IEA	molecular function
GO:0016428	tRNA (cytosine-5-)-methyltransferase activity	EXP	molecular function
GO:0006400	tRNA modification	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0007286	spermatid development	IEA	biological process
GO:0016428	tRNA (cytosine-5-)-methyltransferase activity	IEA	molecular function
GO:0030488	tRNA methylation	IEA	biological process
GO:0033313	meiotic cell cycle checkpoint	IEA	biological process
GO:0062152	mRNA (cytidine-5-)-methyltransferase activity	IEA	molecular function
GO:0001701	in utero embryonic development	IEA	biological process
GO:0033391	chromatoid body	IEA	cellular component
GO:0036416	tRNA stabilization	IEA	biological process
GO:0048820	hair follicle maturation	IEA	biological process
GO:0080009	mRNA methylation	IEA	biological process
GO:2000736	regulation of stem cell differentiation	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005819	spindle	IEA	cellular component
GO:0005730	nucleolus	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0030488	tRNA methylation	IDA	biological process
GO:0016428	tRNA (cytosine-5-)-methyltransferase activity	IDA	molecular function
GO:0005730	nucleolus	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0003723	RNA binding	HDA	molecular function
GO:0003723	RNA binding	HDA	molecular function

Diseases

Associated diseases	References
Autosomal recessive mental retardation	KEGG:H00768
Autosomal recessive mental retardation	KEGG:H00768
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq