Human Gene NSMCE2 (ENST00000522563.5) Description and Page Index
  Description: Homo sapiens NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase (NSMCE2), transcript variant 2, mRNA. (from RefSeq NM_001349485)
RefSeq Summary (NM_001349485): This gene encodes a member of a family of E3 small ubiquitin-related modifier (SUMO) ligases that mediates the attachment of a SUMO protein to proteins involved in nuclear transport, transcription, chromosome segregation and DNA repair. The encoded protein is part of the structural maintenance of chromosomes (SMC) 5/6 complex which plays a key role genome maintenance, facilitating chromosome segregation and suppressing mitotic recombination. A knockout of the orthologous mouse gene is lethal prior to embryonic day 10.5. Naturally occurring mutations in this gene, that abolish the SUMO ligase activity, are associated with primordial dwarfism and extreme insulin resistance. [provided by RefSeq, Mar 2017].
Gencode Transcript: ENST00000522563.5
Gencode Gene: ENSG00000156831.8
Transcript (Including UTRs)
   Position: hg38 chr8:125,091,870-125,367,075 Size: 275,206 Total Exon Count: 7 Strand: +
Coding Region
   Position: hg38 chr8:125,102,331-125,366,885 Size: 264,555 Coding Exon Count: 6 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesMethods
Data last updated: 2019-09-04

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr8:125,091,870-125,367,075)mRNA (may differ from genome)Protein (247 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsHGNC
HPRDLynxMGIneXtProtOMIMPubMed
ReactomeStanford SOURCEUniProtKB

-  Comments and Description Text from UniProtKB
  ID: NSE2_HUMAN
DESCRIPTION: RecName: Full=E3 SUMO-protein ligase NSE2; EC=6.3.2.-; AltName: Full=MMS21 homolog; Short=hMMS21; AltName: Full=Non-structural maintenance of chromosomes element 2 homolog; Short=Non-SMC element 2 homolog;
FUNCTION: E3 SUMO-protein ligase component of the SMC5-SMC6 complex, a complex involved in DNA double-strand break repair by homologous recombination. Is not be required for the stability of the complex. The complex may promote sister chromatid homologous recombination by recruiting the SMC1-SMC3 cohesin complex to double-strand breaks. The complex is required for telomere maintenance via recombination in ALT (alternative lengthening of telomeres) cell lines and mediates sumoylation of shelterin complex (telosome) components which is proposed to lead to shelterin complex disassembly in ALT-associated PML bodies (APBs). Acts as a E3 ligase mediating SUMO attachment to various proteins such as SMC6L1 and TRAX, the shelterin complex subunits TERF1, TERF2, TINF2 and TERF2IP, and maybe the cohesin components RAD21 and STAG2. Required for recruitment of telomeres to PML nuclear bodies. SUMO protein-ligase activity is required for the prevention of DNA damage-induced apoptosis by facilitating DNA repair, and for formation of APBs in ALT cell lines. Required for sister chromatid cohesion during prometaphase and mitotic progression.
PATHWAY: Protein modification; protein sumoylation.
SUBUNIT: Component of the SMC5-SMC6 complex which consists at least of SMC5, SMC6, NSMCE2, NSMCE1, NSMCE4A or EID3 and NDNL2.
INTERACTION: Q96SB8:SMC6; NbExp=2; IntAct=EBI-2557388, EBI-605415;
SUBCELLULAR LOCATION: Nucleus. Chromosome, telomere. Note=Localizes to PML nuclear bodies in ALT cell lines.
PTM: Sumoylated, possibly via autosumoylation.
SIMILARITY: Belongs to the NSE2 family.
SIMILARITY: Contains 1 SP-RING-type zinc finger.

-  MalaCards Disease Associations
  MalaCards Gene Search: NSMCE2
Diseases sorted by gene-association score: seckel syndrome 10* (919), microcephalic primordial dwarfism-insulin resistance syndrome* (247), dwarfism (16), seckel syndrome (5)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 9.90 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 259.24 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -23.70103-0.230 Picture PostScript Text
3' UTR -53.20190-0.280 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR004181 - Znf_MIZ
IPR013083 - Znf_RING/FYVE/PHD

Protein Data Bank (PDB) 3-D Structure
MuPIT help

2YU4
- NMR MuPIT


ModBase Predicted Comparative 3D Structure on Q96MF7
FrontTopSide
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologGenome Browser
Gene Details    Gene Details
Gene Sorter    Gene Sorter
MGIRGDEnsembl  SGD
Protein SequenceProtein Sequence   Protein Sequence
AlignmentAlignment   Alignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0008270 zinc ion binding
GO:0016740 transferase activity
GO:0019789 SUMO transferase activity
GO:0046872 metal ion binding

Biological Process:
GO:0000722 telomere maintenance via recombination
GO:0000724 double-strand break repair via homologous recombination
GO:0006281 DNA repair
GO:0006310 DNA recombination
GO:0006974 cellular response to DNA damage stimulus
GO:0007049 cell cycle
GO:0016925 protein sumoylation
GO:0034184 positive regulation of maintenance of mitotic sister chromatid cohesion
GO:0045842 positive regulation of mitotic metaphase/anaphase transition
GO:0051301 cell division
GO:0090398 cellular senescence
GO:0006303 double-strand break repair via nonhomologous end joining

Cellular Component:
GO:0000781 chromosome, telomeric region
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005694 chromosome
GO:0016604 nuclear body
GO:0016605 PML body
GO:0030915 Smc5-Smc6 complex


-  Descriptions from all associated GenBank mRNAs
  LF210280 - JP 2014500723-A/17783: Polycomb-Associated Non-Coding RNAs.
MA445857 - JP 2018138019-A/17783: Polycomb-Associated Non-Coding RNAs.
BC032797 - Homo sapiens non-SMC element 2, MMS21 homolog (S. cerevisiae), mRNA (cDNA clone MGC:45394 IMAGE:5109691), complete cds.
AK057002 - Homo sapiens cDNA FLJ32440 fis, clone SKMUS2001492.
CU689542 - Synthetic construct Homo sapiens gateway clone IMAGE:100016883 5' read NSMCE2 mRNA.
HQ447112 - Synthetic construct Homo sapiens clone IMAGE:100070398; CCSB009852_01 non-SMC element 2, MMS21 homolog (S. cerevisiae) (NSMCE2) gene, encodes complete protein.
JD021040 - Sequence 2064 from Patent EP1572962.
JD287900 - Sequence 268924 from Patent EP1572962.
JD514337 - Sequence 495361 from Patent EP1572962.
JD223257 - Sequence 204281 from Patent EP1572962.
MF125241 - Homo sapiens bio-material MLL_11935 case NSMCE2/PVT1 fusion mRNA, partial sequence.
MF125232 - Homo sapiens bio-material MLL_11935 case PVT1/NSMCE2 fusion mRNA, partial sequence.
MF125240 - Homo sapiens bio-material MLL_11929 case NSMCE2/PVT1 fusion mRNA, partial sequence.
JD034529 - Sequence 15553 from Patent EP1572962.
LF336815 - JP 2014500723-A/144318: Polycomb-Associated Non-Coding RNAs.
MA572392 - JP 2018138019-A/144318: Polycomb-Associated Non-Coding RNAs.
LF336817 - JP 2014500723-A/144320: Polycomb-Associated Non-Coding RNAs.
MA572394 - JP 2018138019-A/144320: Polycomb-Associated Non-Coding RNAs.
JD231168 - Sequence 212192 from Patent EP1572962.
JD053393 - Sequence 34417 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q96MF7 (Reactome details) participates in the following event(s):

R-HSA-3108212 SMC5-SMC6 Complex SUMOylates Cohesin with SUMO1
R-HSA-3108214 SUMOylation of DNA damage response and repair proteins
R-HSA-3108232 SUMO E3 ligases SUMOylate target proteins
R-HSA-2990846 SUMOylation
R-HSA-597592 Post-translational protein modification
R-HSA-392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: C8orf36, MMS21, NM_001349485, NSE2_HUMAN, Q8N549, Q96MF7, uc064qca.1
UCSC ID: uc064qca.1
RefSeq Accession: NM_001349485
Protein: Q96MF7 (aka NSE2_HUMAN)
CCDS: CCDS6356.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.