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NSMCE2 (NSE2/MMS21 homolog, SMC5-SMC6 complex SUMO ligase)

Identity

Alias_namesMIZ-type containing 7
C8orf36
Alias_symbol (synonym)FLJ32440
MMS21
NSE2
ZMIZ7
Other alias
HGNC (Hugo) NSMCE2
LocusID (NCBI) 286053
Atlas_Id 43647
Location 8q24.13  [Link to chromosome band 8q24]
Location_base_pair Starts at 125091823 and ends at 125367125 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)
ACOT7 (1p36.31) / NSMCE2 (8q24.13)NCALD (8q22.3) / NSMCE2 (8q24.13)NSMCE2 (8q24.13) / ACIN1 (14q11.2)
NSMCE2 (8q24.13) / DCLRE1C (10p13)NSMCE2 (8q24.13) / IER3IP1 (18q21.1)NSMCE2 (8q24.13) / MKRN2 (3p25.2)
NSMCE2 (8q24.13) / NSMCE2 (8q24.13)NSMCE2 (8q24.13) / PACRG (6q26)NSMCE2 (8q24.13) / PBX3 (9q33.3)
NSMCE2 (8q24.13) / SNTB1 (8q24.12)NSMCE2 (8q24.13) / ZEB2 (2q22.3)PVT1 (8q24.21) / NSMCE2 (8q24.13)
SNHG3 (1p35.3) / NSMCE2 (8q24.13)TRIB1 (8q24.13) / NSMCE2 (8q24.13)TRMU (22q13.31) / NSMCE2 (8q24.13)
ACOT7 1p36.31 / NSMCE2 8q24.13NCALD 8q22.3 / NSMCE2 8q24.13NSMCE2 8q24.13 / DCLRE1C 10p13
NSMCE2 8q24.13 / PACRG 6q26NSMCE2 8q24.13 / PBX3 9q33.3NSMCE2 8q24.13 / SNTB1 8q24.12
TRIB1 8q24.13 / NSMCE2 8q24.13

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)NSMCE2   26513
Cards
Entrez_Gene (NCBI)NSMCE2  286053  NSE2/MMS21 homolog, SMC5-SMC6 complex SUMO ligase
AliasesC8orf36; MMS21; NSE2; ZMIZ7
GeneCards (Weizmann)NSMCE2
Ensembl hg19 (Hinxton)ENSG00000156831 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000156831 [Gene_View]  chr8:125091823-125367125 [Contig_View]  NSMCE2 [Vega]
ICGC DataPortalENSG00000156831
TCGA cBioPortalNSMCE2
AceView (NCBI)NSMCE2
Genatlas (Paris)NSMCE2
WikiGenes286053
SOURCE (Princeton)NSMCE2
Genetics Home Reference (NIH)NSMCE2
Genomic and cartography
GoldenPath hg38 (UCSC)NSMCE2  -     chr8:125091823-125367125 +  8q24.13   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)NSMCE2  -     8q24.13   [Description]    (hg19-Feb_2009)
EnsemblNSMCE2 - 8q24.13 [CytoView hg19]  NSMCE2 - 8q24.13 [CytoView hg38]
Mapping of homologs : NCBINSMCE2 [Mapview hg19]  NSMCE2 [Mapview hg38]
OMIM617246   617253   
Gene and transcription
Genbank (Entrez)AA580621 AK057002 BC032797 BM993808 BU942315
RefSeq transcript (Entrez)NM_001349485 NM_001349486 NM_001349487 NM_173685
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)NSMCE2
Cluster EST : UnigeneHs.388297 [ NCBI ]
CGAP (NCI)Hs.388297
Alternative Splicing GalleryENSG00000156831
Gene ExpressionNSMCE2 [ NCBI-GEO ]   NSMCE2 [ EBI - ARRAY_EXPRESS ]   NSMCE2 [ SEEK ]   NSMCE2 [ MEM ]
Gene Expression Viewer (FireBrowse)NSMCE2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)286053
GTEX Portal (Tissue expression)NSMCE2
Human Protein AtlasENSG00000156831-NSMCE2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96MF7   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96MF7  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96MF7
Splice isoforms : SwissVarQ96MF7
Catalytic activity : Enzyme6.3.2.- [ Enzyme-Expasy ]   6.3.2.-6.3.2.- [ IntEnz-EBI ]   6.3.2.- [ BRENDA ]   6.3.2.- [ KEGG ]   
PhosPhoSitePlusQ96MF7
Domaine pattern : Prosite (Expaxy)ZF_SP_RING (PS51044)   
Domains : Interpro (EBI)Nse2(Mms21)    Znf_MIZ    Znf_RING/FYVE/PHD   
Domain families : Pfam (Sanger)zf-Nse (PF11789)   
Domain families : Pfam (NCBI)pfam11789   
Conserved Domain (NCBI)NSMCE2
DMDM Disease mutations286053
Blocks (Seattle)NSMCE2
PDB (SRS)2YU4   
PDB (PDBSum)2YU4   
PDB (IMB)2YU4   
PDB (RSDB)2YU4   
Structural Biology KnowledgeBase2YU4   
SCOP (Structural Classification of Proteins)2YU4   
CATH (Classification of proteins structures)2YU4   
SuperfamilyQ96MF7
Human Protein Atlas [tissue]ENSG00000156831-NSMCE2 [tissue]
Peptide AtlasQ96MF7
HPRD08131
IPIIPI00166784   IPI00978863   IPI00976963   IPI01010569   IPI00795255   IPI01009866   IPI00791610   
Protein Interaction databases
DIP (DOE-UCLA)Q96MF7
IntAct (EBI)Q96MF7
FunCoupENSG00000156831
BioGRIDNSMCE2
STRING (EMBL)NSMCE2
ZODIACNSMCE2
Ontologies - Pathways
QuickGOQ96MF7
Ontology : AmiGOtelomere maintenance via recombination  double-strand break repair via homologous recombination  chromosome, telomeric region  protein binding  nucleus  nucleoplasm  double-strand break repair via nonhomologous end joining  cell cycle  zinc ion binding  nuclear body  PML body  ligase activity  protein sumoylation  SUMO transferase activity  SUMO transferase activity  Smc5-Smc6 complex  positive regulation of maintenance of mitotic sister chromatid cohesion  positive regulation of mitotic metaphase/anaphase transition  cell division  cellular senescence  
Ontology : EGO-EBItelomere maintenance via recombination  double-strand break repair via homologous recombination  chromosome, telomeric region  protein binding  nucleus  nucleoplasm  double-strand break repair via nonhomologous end joining  cell cycle  zinc ion binding  nuclear body  PML body  ligase activity  protein sumoylation  SUMO transferase activity  SUMO transferase activity  Smc5-Smc6 complex  positive regulation of maintenance of mitotic sister chromatid cohesion  positive regulation of mitotic metaphase/anaphase transition  cell division  cellular senescence  
NDEx NetworkNSMCE2
Atlas of Cancer Signalling NetworkNSMCE2
Wikipedia pathwaysNSMCE2
Orthology - Evolution
OrthoDB286053
GeneTree (enSembl)ENSG00000156831
Phylogenetic Trees/Animal Genes : TreeFamNSMCE2
HOVERGENQ96MF7
HOEE^OMQ96MF7
Homologs : HomoloGeneNSMCE2
Homology/Alignments : Family Browser (UCSC)NSMCE2
Gene fusions - Rearrangements
Fusion : MitelmanACOT7/NSMCE2 [1p36.31/8q24.13]  [t(1;8)(p36;q24)]  
Fusion : MitelmanNCALD/NSMCE2 [8q22.3/8q24.13]  [t(8;8)(q22;q24)]  
Fusion : MitelmanNSMCE2/DCLRE1C [8q24.13/10p13]  [t(8;10)(q24;p13)]  
Fusion : MitelmanNSMCE2/PACRG [8q24.13/6q26]  [t(6;8)(q26;q24)]  
Fusion : MitelmanNSMCE2/PBX3 [8q24.13/9q33.3]  [t(8;9)(q24;q33)]  
Fusion : MitelmanNSMCE2/SNTB1 [8q24.13/8q24.12]  [t(8;8)(q24;q24)]  
Fusion : MitelmanPVT1/NSMCE2 [8q24.21/8q24.13]  [t(8;8)(q24;q24)]  
Fusion : MitelmanTRIB1/NSMCE2 [8q24.13/8q24.13]  [t(8;8)(q24;q24)]  
Fusion: TCGAACOT7 1p36.31 NSMCE2 8q24.13 BRCA
Fusion: TCGANCALD 8q22.3 NSMCE2 8q24.13 LUSC
Fusion: TCGANSMCE2 8q24.13 DCLRE1C 10p13 BRCA
Fusion: TCGANSMCE2 8q24.13 PACRG 6q26 HNSC
Fusion: TCGANSMCE2 8q24.13 PBX3 9q33.3 OV
Fusion: TCGANSMCE2 8q24.13 SNTB1 8q24.12 BRCA
Fusion: TCGATRIB1 8q24.13 NSMCE2 8q24.13 BRCA LUAD
Fusion: Tumor Portal NSMCE2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerNSMCE2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)NSMCE2
dbVarNSMCE2
ClinVarNSMCE2
1000_GenomesNSMCE2 
Exome Variant ServerNSMCE2
ExAC (Exome Aggregation Consortium)ENSG00000156831
GNOMAD BrowserENSG00000156831
Genetic variants : HAPMAP286053
Genomic Variants (DGV)NSMCE2 [DGVbeta]
DECIPHERNSMCE2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisNSMCE2 
Mutations
ICGC Data PortalNSMCE2 
TCGA Data PortalNSMCE2 
Broad Tumor PortalNSMCE2
OASIS PortalNSMCE2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICNSMCE2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDNSMCE2
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
BioMutasearch NSMCE2
DgiDB (Drug Gene Interaction Database)NSMCE2
DoCM (Curated mutations)NSMCE2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)NSMCE2 (select a term)
intoGenNSMCE2
Cancer3DNSMCE2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM617246    617253   
Orphanet23333   
MedgenNSMCE2
Genetic Testing Registry NSMCE2
NextProtQ96MF7 [Medical]
TSGene286053
GENETestsNSMCE2
Target ValidationNSMCE2
Huge Navigator NSMCE2 [HugePedia]
snp3D : Map Gene to Disease286053
BioCentury BCIQNSMCE2
ClinGenNSMCE2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD286053
Chemical/Pharm GKB GenePA142672355
Clinical trialNSMCE2
Miscellaneous
canSAR (ICR)NSMCE2 (select the gene name)
Probes
Litterature
PubMed34 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineNSMCE2
EVEXNSMCE2
GoPubMedNSMCE2
iHOPNSMCE2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Nov 9 13:03:14 CET 2017

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