Homo sapiens Protein: NSUN2
Summary
InnateDB Protein IDBP-11586.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol NSUN2
Protein Name NOP2/Sun domain family, member 2
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000264670
InnateDB Gene IDBG-11582 (NSUN2)
Protein Structure
UniProt Annotation
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. {ECO:0000269PubMed:17071714, ECO:0000269PubMed:19596847, ECO:0000269PubMed:22995836}.
Subcellular Localization 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.
Disease Associations 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:0000269PubMed:22541559, ECO:0000269PubMed:22541562}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Expressed in adult and fetal brain and in lymphoblastoid cells. {ECO:0000269PubMed:22541559}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 66 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 66 [view]
Protein-Protein 66 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0000049 tRNA binding
GO:0016428 tRNA (cytosine-5-)-methyltransferase activity
GO:0044822 poly(A) RNA binding
Biological Process
GO:0007067 mitotic nuclear division
GO:0030488 tRNA methylation
Cellular Component
GO:0005634 nucleus
GO:0005730 nucleolus
GO:0005737 cytoplasm
GO:0005819 spindle
Protein Structure and Domains
PDB ID
InterPro IPR001678 Bacterial Fmu (Sun)/eukaryotic nucleolar NOL1/Nop2p
IPR023267 RNA (C5-cytosine) methyltransferase
IPR023270 tRNA (C5-cytosine) methyltransferase, NCL1
IPR029063 S-adenosyl-L-methionine-dependent methyltransferase-like
PFAM PF01189
PRINTS PR02008
PR02011
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q08J23
PhosphoSite PhosphoSite-Q08J23
TrEMBL
UniProt Splice Variant
Entrez Gene 54888
UniGene Hs.620888
RefSeq NP_060225
HUGO HGNC:25994
OMIM 610916
CCDS CCDS3869
HPRD 08620
IMGT
EMBL AB255451 AC010366 AC027334 AK000310 AK023994 AK055456 AK291144 AK298980 BC001041 BC137083 CH471102
GenPept AAH01041 AAI37084 BAA91075 BAB14762 BAF34150 BAF83833 BAG51521 BAG61074 EAX08105 EAX08106