NSMCE2 Gene
protein-coding GIFtS: 45
GCID: GC08P126103
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non-SMC element 2, MMS21 homolog (S. cerevisiae)(Previous names: chromosome 8 open reading frame 36, non-SMC element 2 homolog...)
(Previous symbol: C8orf36)
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Aliases
for NSMCE2 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Non-SMC Element 2, MMS21 Homolog (S. Cerevisiae)1 2 | | FLJ324401 | | C8orf361 2 3 | | Chromosome 8 Open Reading Frame 361 | | MMS211 2 3 | | Non-SMC Element 2 Homolog (MMS21, S. Cerevisiae)1 | | NSE21 2 | | E3 SUMO-Protein Ligase NSE22 | | ZMIZ71 2 | | Methyl Methanesulfonate Sensitivity Gene 212 | | Non-SMC Element 2 Homolog2 3 | | Zinc Finger, MIZ-Type Containing 72 | | Non-Structural Maintenance Of Chromosomes Element 2 Homolog2 3 | | EC 6.3.2.-3 | | HMMS211 | | EC 6.3.28 | | MMS21 Homolog2 3 | | |
Export aliases for NSMCE2 gene to outside databasesPrevious GC identifers: GC08P126175 GC08P121427 |
Summaries
for NSMCE2 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
UniProtKB/Swiss-Prot: NSE2_HUMAN, Q96MF7Function: E3 SUMO-protein ligase component of the SMC5-SMC6 complex, a complex involved in DNA double-strand breakrepair by homologous recombination. Is not be required for the stability of the complex. The complex may promotesister chromatid homologous recombination by recruiting the SMC1-SMC3 cohesin complex to double-strand breaks. Thecomplex is required for telomere maintenance via recombination in ALT (alternative lengthening of telomeres) celllines and mediates sumoylation of shelterin complex (telosome) components which is proposed to lead to shelterincomplex disassembly in ALT-associated PML bodies (APBs). Acts as a E3 ligase mediating SUMO attachment to variousproteins such as SMC6L1 and TRAX, the shelterin complex subunits TERF1, TERF2, TINF2 and TERF2IP, and maybe thecohesin components RAD21 and STAG2. Required for recruitment of telomeres to PML nuclear bodies. SUMO protein-ligaseactivity is required for the prevention of DNA damage-induced apoptosis by facilitating DNA repair, and for formationof APBs in ALT cell lines. Required for sister chromatid cohesion during prometaphase and mitotic progression
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Genomic Views
for NSMCE2 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000008.10 NC_018919.1 NT_008046.16
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the NSMCE2 gene promoter:
IRF-1 HNF-1A MEF-2A CBF-A CBF-B HNF-1 CP1A aMEF-2 NF-Y CBF(2)
Other transcription factors
Search SABiosciences Chromatin IP Primers for NSMCE2
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NSMCE2 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 8q24.13 Ensembl cytogenetic band: 8q24.13 HGNC cytogenetic band: 8q24.13NSMCE2 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 8 GeneLoc Exon Structure GeneLoc location for GC08P126103: view genomic region
(about GC identifiers)
Start:
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126,103,921 bp from pter |
End:
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126,379,367 bp from pter |
Size:
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275,447 bases |
Orientation:
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plus strand |
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Proteins
for NSMCE2 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: NSE2_HUMAN, Q96MF7 (See
protein sequence)Recommended Name: E3 SUMO-protein ligase NSE2 Size: 247 amino acids; 27932 Da
Subunit: Component of the SMC5-SMC6 complex which consists at least of SMC5, SMC6, NSMCE2, NSMCE1, NSMCE4A or EID3 andNDNL2
Subcellular location: Nucleus. Chromosome, telomere. Note=Localizes to PML nuclear bodies in ALT cell lines
1 PDB 3D structure from  and Proteopedia  for NSMCE2:2YU4 (3D)
Secondary accessions: Q8N549Explore the universe of human proteins at neXtProt for NSMCE2: NX_Q96MF7
Post-translational modifications:
Sumoylated, possibly via autosumoylation1
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q96MF7
3 DME Specific Peptides for NSMCE2 (Q96MF7)
NSMCE2 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_775956.1
ENSEMBL proteins: ENSP00000429383 ENSP00000429612 ENSP00000287437 ENSP00000431002 ENSP00000430668 ENSP00000430313 ENSP00000429014 ENSP00000428846
Human Recombinant Protein Products:
Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table
NSMCE2 for ontologies About GeneDecksing
NSMCE2 Antibody Products:
Assay Products for NSMCE2: |
Protein
Domains /
Families
for NSMCE2 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
NSMCE2 for domains About GeneDecksing
3 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q96MF7ProtoNet protein and cluster: Q96MF7 UniProtKB/Swiss-Prot: NSE2_HUMAN, Q96MF7Similarity: Belongs to the NSE2 familySimilarity: Contains 1 SP-RING-type zinc finger |
Function
for NSMCE2 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: NSE2_HUMAN, Q96MF7Function: E3 SUMO-protein ligase component of the SMC5-SMC6 complex, a complex involved in DNA double-strand breakrepair by homologous recombination. Is not be required for the stability of the complex. The complex may promotesister chromatid homologous recombination by recruiting the SMC1-SMC3 cohesin complex to double-strand breaks. Thecomplex is required for telomere maintenance via recombination in ALT (alternative lengthening of telomeres) celllines and mediates sumoylation of shelterin complex (telosome) components which is proposed to lead to shelterincomplex disassembly in ALT-associated PML bodies (APBs). Acts as a E3 ligase mediating SUMO attachment to variousproteins such as SMC6L1 and TRAX, the shelterin complex subunits TERF1, TERF2, TINF2 and TERF2IP, and maybe thecohesin components RAD21 and STAG2. Required for recruitment of telomeres to PML nuclear bodies. SUMO protein-ligaseactivity is required for the prevention of DNA damage-induced apoptosis by facilitating DNA repair, and for formationof APBs in ALT cell lines. Required for sister chromatid cohesion during prometaphase and mitotic progressionEnzyme Numbers (IUBMB): EC 6.3.2.-1 EC 6.3.22
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for NSMCE2 (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for NSMCE2
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
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Synthesis Service for NSMCE2 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NSMCE2 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NSMCE2 |
Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table
NSMCE2 for ontologies About GeneDecksing
Animal Models:
1 MGI phenotypic allele  for Nsmce2 (no phenotypes)
NSMCE2 for phenotypes About GeneDecksing
|
Pathways & Interactions
for NSMCE2 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
UniProtKB/Swiss-Prot: NSE2_HUMAN, Q96MF7Pathway: Protein modification; protein sumoylationInteractions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for NSMCE2
STRING Interaction
Network Preview (showing 5 interactants - click image to see 7)
5/7 Interacting proteins for NSMCE2 (Q96MF71 ENSP000002874374) via UniProtKB, MINT, STRING, and/or I2D (see all 7) About this table
Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (see all 9): About this table
NSMCE2 for ontologies About GeneDecksing
|
Drugs & Compounds
for NSMCE2 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for NSMCE2
Search CenterWatch for drugs/clinical trials and news about NSMCE2 / NSE2
|
Transcripts
for NSMCE2 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for NSMCE2 gene: NM_173685.2 Unigene Cluster for NSMCE2: Non-SMC element 2, MMS21 homolog (S. cerevisiae) Hs.388297 [show with all ESTs]Unigene Representative Sequence: BF96603513 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000523741 ENST00000520866 ENST00000519010 ENST00000517532 ENST00000287437(uc003yrw.2)
ENST00000518013 ENST00000523824 ENST00000522563 ENST00000518146 ENST00000523549
ENST00000519712 ENST00000517315 ENST00000521460
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for NSMCE2 (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for NSMCE2
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: NSMCE2 (NM_173685) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for NSMCE2 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NSMCE2 |
Additional cDNA sequence: AF147336.1 AK057002.1 BC032797.1 15 DOTS entries: DT.311499 DT.100815214 DT.95164454 DT.99941399 DT.100754810 DT.204918 DT.95164455 DT.100815211 DT.95164453 DT.100023269 DT.121467676 DT.91764688 DT.91764693 DT.100789091 DT.121467704 24/120 AceView cDNA sequences (see all 120): AA505468 BM840663 H72555 BF512615 AI638378 AW438895 AI445325 CR620646 BE501754 CA446607 CN479340 AL527284 AA580739 BM671181 BM844770 AF147336 BP872985 BM993808 BU151559 AA580621 BF724953 BF727237 BU183092 AA426239
GeneLoc Exon Structure
|
Expression
for NSMCE2 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| NSMCE2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: ATTGAGTCCA
About this image
See NSMCE2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for NSMCE2
SOURCE GeneReport for Unigene cluster: Hs.388297
SABiosciences Custom PCR Arrays for NSMCE2
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for NSMCE2
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat NSMCE2 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat NSMCE2 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat NSMCE2 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NSMCE2 |
Orthologs
for NSMCE2 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of chordates.
Orthologs for NSMCE2 gene from 5/14 species (see all 14) About this table
ENSEMBL Gene Tree for NSMCE2 (if available)
TreeFam Gene Tree for NSMCE2 (if available) |
Paralogs
for NSMCE2 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| -- |
Genomic Variants
for NSMCE2 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 8 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for NSMCE2 (126103921 - 126353921 bp, first 250kb of NSMCE2)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 7 variations for NSMCE2
2 CNVs: 95675 100492
5 Indels: 62851 41129 47454 41128 28768 | SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing NSMCE2 |
|
Disorders
/ Diseases
for NSMCE2 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
NSMCE2 for disorders About GeneDecksing
3  diseases for NSMCE2: About MalaCardsbipolar disorder prostate cancer prostatitis
Human Genome Epidemiology (HuGE) Navigator: NSMCE2 (4 documents)
Export disorders for NSMCE2 gene to outside databases
|
Publications
for NSMCE2 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for NSMCE2 gene, integrated from 9 sources (see all 30):
(articles sorted by number of sources associating them with NSMCE2) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- SMC5 and MMS21 are required for chromosome cohesion a nd mitotic progression. (PubMed id 19502785)1, 2 Behlke-Steinert S....Margolis R.L. (2009)
- Identification of the proteins, including MAGEG1, that make up the human SMC5-6 protein complex. (PubMed id 18086888)1, 2 Taylor E.M....Lehmann A.R. (2008)
- The SMC5/6 complex maintains telomere length in ALT cancer cells through SUMOylation of telomere-binding proteins. (PubMed id 17589526)1, 2 Potts P.R. and Yu H. (2007)
- Human SMC5/6 complex promotes sister chromatid homologous recombination by recruiting the SMC1/3 cohesin complex to double- strand breaks. (PubMed id 16810316)1, 2 Potts P.R.... Yu H. (2006)
- Human MMS21/NSE2 is a SUMO ligase required for DNA repair. (PubMed id 16055714)1, 2 Potts P.R. and Yu H. (2005)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
- Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (2002)
- Scc1 sumoylation by Mms21 promotes sister chromatid re combination through counteracting Wapl. (PubMed id 22751501)1 Wu N....Yu H. (2012)
- Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
|
External Searches for NSMCE2 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing NSMCE2 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing NSMCE2 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing NSMCE2 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for NSMCE2 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for NSMCE2 gene:
Search GeneIP for patents involving NSMCE2
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for NSMCE2 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
 | |
 |
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 | | | NSMCE2 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NSMCE2 |
|  |  |  | | | | ThermoFisher Antibodies for NSMCE2 |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NSMCE2 |
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