• Gene id: 4839

Gene Summary

• Gene Symbol: NOP2   Gene   UCSC   Ensembl
• Aliases: NOL1, NOP120, NSUN1, p120
• Gene name: NOP2 nucleolar protein
• Alternate names: probable 28S rRNA (cytosine(4447)-C(5))-methyltransferase, NOL1/NOP2/Sun domain family, member 1, NOP2 nucleolar protein homolog, nucleolar protein 1, 120kDa, nucleolar protein 2 homolog, proliferating-cell nucleolar antigen p120, proliferation-associated nucle,
• Gene location: 12p13.31 (6568290: 6556870)     Exons: 18     NC_000012.12
• OMIM: 182330

Protein Summary

• Protein general information: P46087  
  • Name: Probable 28S rRNA (cytosine(4447) C(5)) methyltransferase (EC 2.1.1. ) (Nucleolar protein 1) (Nucleolar protein 2 homolog) (Proliferating cell nucleolar antigen p120) (Proliferation associated nucleolar protein p120)
  • Length: 812  
  • Mass: 89302
• Sequence:

  MGRKLDPTKEKRGPGRKARKQKGAETELVRFLPAVSDENSKRLSSRARKRAAKRRLGSVEAPKTNKSPEAKPLPG
  KLPKGISAGAVQTAGKKGPQSLFNAPRGKKRPAPGSDEEEEEEDSEEDGMVNHGDLWGSEDDADTVDDYGADSNS
  EDEEEGEALLPIERAARKQKAREAAAGIQWSEEETEDEEEEKEVTPESGPPKVEEADGGLQINVDEEPFVLPPAG
  EMEQDAQAPDLQRVHKRIQDIVGILRDFGAQREEGRSRSEYLNRLKKDLAIYYSYGDFLLGKLMDLFPLSELVEF
  LEANEVPRPVTLRTNTLKTRRRDLAQALINRGVNLDPLGKWSKTGLVVYDSSVPIGATPEYLAGHYMLQGASSML
  PVMALAPQEHERILDMCCAPGGKTSYMAQLMKNTGVILANDANAERLKSVVGNLHRLGVTNTIISHYDGRQFPKV
  VGGFDRVLLDAPCSGTGVISKDPAVKTNKDEKDILRCAHLQKELLLSAIDSVNATSKTGGYLVYCTCSITVEENE
  WVVDYALKKRNVRLVPTGLDFGQEGFTRFRERRFHPSLRSTRRFYPHTHNMDGFFIAKFKKFSNSIPQSQTGNSE
  TATPTNVDLPQVIPKSENSSQPAKKAKGAAKTKQQLQKQQHPKKASFQKLNGISKGADSELSTVPSVTKTQASSS
  FQDSSQPAGKAEGIREPKVTGKLKQRSPKLQSSKKVAFLRQNAPPKGTDTQTPAVLSPSKTQATLKPKDHHQPLG
  RAKGVEKQQLPEQPFEKAAFQKQNDTPKGPQPPTVSPIRSSRPPPAKRKKSQSRGNSQLLLS

• Structural information:
  • Interpro: IPR018314  IPR031341  IPR001678  IPR011023  IPR012586   IPR023267  IPR023273  IPR029063  
  • Prosite: PS01153 PS51686
  • STRING: ENSP00000371858
• Other Databases: GeneCards:  NOP2  Malacards:  NOP2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001510	RNA methylation	IBA	biological process
GO:0005730	nucleolus	IBA	cellular component
GO:0000470	maturation of LSU-rRNA	IBA	biological process
GO:0009383	rRNA (cytosine-C5-)-methyltransferase activity	IBA	molecular function
GO:0070475	rRNA base methylation	IBA	biological process
GO:0000027	ribosomal large subunit assembly	IMP	biological process
GO:1901796	regulation of signal transduction by p53 class mediator	IMP	biological process
GO:0008757	S-adenosylmethionine-dependent methyltransferase activity	IEA	molecular function
GO:0003723	RNA binding	IEA	molecular function
GO:0006364	rRNA processing	IEA	biological process
GO:0008168	methyltransferase activity	IEA	molecular function
GO:0042254	ribosome biogenesis	IEA	biological process
GO:0032259	methylation	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0008168	methyltransferase activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0003723	RNA binding	IEA	molecular function
GO:0006364	rRNA processing	IEA	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0006357	regulation of transcription by RNA polymerase II	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005730	nucleolus	IEA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0008284	positive regulation of cell population proliferation	IDA	biological process
GO:0005730	nucleolus	HDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0003723	RNA binding	HDA	molecular function
GO:0003723	RNA binding	HDA	molecular function

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray