Atlas of Genetics and Cytogenetics in Oncology and Haematology


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NSUN2 (NOP2/Sun RNA methyltransferase family member 2)

Identity

Alias_namesMRT5
NOL1/NOP2/Sun domain family, member 2
NOP2/Sun domain family, member 2
mental retardation, non-syndromic, autosomal recessive, 5
Alias_symbol (synonym)FLJ20303
TRM4
Misu
Other aliasMISU
SAKI
HGNC (Hugo) NSUN2
LocusID (NCBI) 54888
Atlas_Id 40599
Location 5p15.31  [Link to chromosome band 5p15]
Location_base_pair Starts at 6599239 and ends at 6633360 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
A2M (12p13.31) / NSUN2 (5p15.31)NSUN2 (5p15.31) / NSUN2 (5p15.31)NSUN2 (5p15.31) / SLC25A39 (17q21.31)
NSUN2 (5p15.31) / SOCS3 (17q25.3)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)NSUN2   25994
Cards
Entrez_Gene (NCBI)NSUN2  54888  NOP2/Sun RNA methyltransferase family member 2
AliasesMISU; MRT5; SAKI; TRM4
GeneCards (Weizmann)NSUN2
Ensembl hg19 (Hinxton)ENSG00000037474 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000037474 [Gene_View]  ENSG00000037474 [Sequence]  chr5:6599239-6633360 [Contig_View]  NSUN2 [Vega]
ICGC DataPortalENSG00000037474
TCGA cBioPortalNSUN2
AceView (NCBI)NSUN2
Genatlas (Paris)NSUN2
WikiGenes54888
SOURCE (Princeton)NSUN2
Genetics Home Reference (NIH)NSUN2
Genomic and cartography
GoldenPath hg38 (UCSC)NSUN2  -     chr5:6599239-6633360 -  5p15.31   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)NSUN2  -     5p15.31   [Description]    (hg19-Feb_2009)
EnsemblNSUN2 - 5p15.31 [CytoView hg19]  NSUN2 - 5p15.31 [CytoView hg38]
Mapping of homologs : NCBINSUN2 [Mapview hg19]  NSUN2 [Mapview hg38]
OMIM610916   611091   
Gene and transcription
Genbank (Entrez)AB255451 AK000310 AK023994 AK055456 AK291144
RefSeq transcript (Entrez)NM_001193455 NM_017755
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)NSUN2
Cluster EST : UnigeneHs.481526 [ NCBI ]
CGAP (NCI)Hs.481526
Alternative Splicing GalleryENSG00000037474
Gene ExpressionNSUN2 [ NCBI-GEO ]   NSUN2 [ EBI - ARRAY_EXPRESS ]   NSUN2 [ SEEK ]   NSUN2 [ MEM ]
Gene Expression Viewer (FireBrowse)NSUN2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)54888
GTEX Portal (Tissue expression)NSUN2
Human Protein AtlasENSG00000037474-NSUN2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ08J23   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ08J23  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ08J23
Splice isoforms : SwissVarQ08J23
Catalytic activity : Enzyme2.1.1.203 [ Enzyme-Expasy ]   2.1.1.2032.1.1.203 [ IntEnz-EBI ]   2.1.1.203 [ BRENDA ]   2.1.1.203 [ KEGG ]   
PhosPhoSitePlusQ08J23
Domaine pattern : Prosite (Expaxy)SAM_MT_RSMB_NOP (PS51686)   
Domains : Interpro (EBI)MeTrfase_RsmB/NOP2    RCMT    RCMT_NCL1    SAM-dependent_MTases   
Domain families : Pfam (Sanger)Methyltr_RsmB-F (PF01189)   
Domain families : Pfam (NCBI)pfam01189   
Conserved Domain (NCBI)NSUN2
DMDM Disease mutations54888
Blocks (Seattle)NSUN2
SuperfamilyQ08J23
Human Protein Atlas [tissue]ENSG00000037474-NSUN2 [tissue]
Peptide AtlasQ08J23
HPRD08620
IPIIPI00306369   IPI01012417   IPI00966877   IPI00966946   IPI00965477   
Protein Interaction databases
DIP (DOE-UCLA)Q08J23
IntAct (EBI)Q08J23
FunCoupENSG00000037474
BioGRIDNSUN2
STRING (EMBL)NSUN2
ZODIACNSUN2
Ontologies - Pathways
QuickGOQ08J23
Ontology : AmiGOtRNA binding  RNA binding  nucleoplasm  nucleolus  cytoplasm  spindle  tRNA modification  spermatid development  tRNA (cytosine-5-)-methyltransferase activity  tRNA (cytosine-5-)-methyltransferase activity  tRNA methylation  meiotic cell cycle checkpoint  chromatoid body  hair follicle maturation  cell division  
Ontology : EGO-EBItRNA binding  RNA binding  nucleoplasm  nucleolus  cytoplasm  spindle  tRNA modification  spermatid development  tRNA (cytosine-5-)-methyltransferase activity  tRNA (cytosine-5-)-methyltransferase activity  tRNA methylation  meiotic cell cycle checkpoint  chromatoid body  hair follicle maturation  cell division  
NDEx NetworkNSUN2
Atlas of Cancer Signalling NetworkNSUN2
Wikipedia pathwaysNSUN2
Orthology - Evolution
OrthoDB54888
GeneTree (enSembl)ENSG00000037474
Phylogenetic Trees/Animal Genes : TreeFamNSUN2
HOVERGENQ08J23
HOGENOMQ08J23
Homologs : HomoloGeneNSUN2
Homology/Alignments : Family Browser (UCSC)NSUN2
Gene fusions - Rearrangements
Fusion Cancer (Beijing)A2M [12p13.31]  -  NSUN2 [5p15.31]  [FUSC002099]
Fusion : QuiverNSUN2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerNSUN2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)NSUN2
dbVarNSUN2
ClinVarNSUN2
1000_GenomesNSUN2 
Exome Variant ServerNSUN2
ExAC (Exome Aggregation Consortium)ENSG00000037474
GNOMAD BrowserENSG00000037474
Genetic variants : HAPMAP54888
Genomic Variants (DGV)NSUN2 [DGVbeta]
DECIPHERNSUN2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisNSUN2 
Mutations
ICGC Data PortalNSUN2 
TCGA Data PortalNSUN2 
Broad Tumor PortalNSUN2
OASIS PortalNSUN2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICNSUN2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDNSUN2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
BioMutasearch NSUN2
DgiDB (Drug Gene Interaction Database)NSUN2
DoCM (Curated mutations)NSUN2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)NSUN2 (select a term)
intoGenNSUN2
Cancer3DNSUN2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM610916    611091   
Orphanet472    11804   
DisGeNETNSUN2
MedgenNSUN2
Genetic Testing Registry NSUN2
NextProtQ08J23 [Medical]
TSGene54888
GENETestsNSUN2
Target ValidationNSUN2
Huge Navigator NSUN2 [HugePedia]
snp3D : Map Gene to Disease54888
BioCentury BCIQNSUN2
ClinGenNSUN2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD54888
Chemical/Pharm GKB GenePA134953940
Clinical trialNSUN2
Miscellaneous
canSAR (ICR)NSUN2 (select the gene name)
Probes
Litterature
PubMed57 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineNSUN2
EVEXNSUN2
GoPubMedNSUN2
iHOPNSUN2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri Jun 22 16:40:53 CEST 2018

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