NSMCE2 (NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase) - Rat Genome Database

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Gene: NSMCE2 (NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase) Homo sapiens
Analyze
Symbol: NSMCE2
Name: NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase
RGD ID: 1606915
HGNC Page HGNC
Description: Exhibits SUMO transferase activity. Involved in DNA recombination; cellular senescence; and positive regulation of cell cycle process. Localizes to PML body; Smc5-Smc6 complex; and chromosome, telomeric region. Implicated in Seckel syndrome 10.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: C8orf36; E3 SUMO-protein ligase NSE2; E3 SUMO-protein transferase NSE2; FLJ32440; hMMS21; methyl methanesulfonate sensitivity gene 21; MMS21; MMS21 homolog; non-SMC element 2 homolog; non-SMC element 2, MMS21 homolog; non-structural maintenance of chromosomes element 2 homolog; NSE2; NSE2/MMS21 homolog, SMC5-SMC6 complex SUMO ligase; NSMCE2/PVT1 fusion; PVT1/NSMCE2 fusion; zinc finger, MIZ-type containing 7; ZMIZ7
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8125,091,679 - 125,367,120 (+)EnsemblGRCh38hg38GRCh38
GRCh388125,091,779 - 125,367,125 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh378126,104,102 - 126,379,362 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 368126,173,277 - 126,448,544 (+)NCBINCBI36hg18NCBI36
Celera8122,293,246 - 122,568,218 (+)NCBI
Cytogenetic Map8q24.13NCBI
HuRef8121,427,877 - 121,703,222 (+)NCBIHuRef
CHM1_18126,144,698 - 126,419,607 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

References

Additional References at PubMed
PMID:12477932   PMID:14702039   PMID:15489334   PMID:16055714   PMID:16810316   PMID:17207965   PMID:17589526   PMID:18086888   PMID:18163389   PMID:19217832   PMID:19502785   PMID:19549807  
PMID:19666737   PMID:20339536   PMID:20360068   PMID:20379614   PMID:20460480   PMID:21102611   PMID:21550342   PMID:21873635   PMID:22751501   PMID:23398456   PMID:24931836   PMID:24999758  
PMID:25105364   PMID:25245984   PMID:25359778   PMID:25416956   PMID:26186194   PMID:26344197   PMID:26443207   PMID:26464253   PMID:26496610   PMID:26743946   PMID:27792189   PMID:28514442  
PMID:28611215   PMID:29180619   PMID:29467491   PMID:29656893   PMID:30590722   PMID:30735491   PMID:31540324   PMID:32296183   PMID:32814053   PMID:33001583  


Genomics

Comparative Map Data
NSMCE2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8125,091,679 - 125,367,120 (+)EnsemblGRCh38hg38GRCh38
GRCh388125,091,779 - 125,367,125 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh378126,104,102 - 126,379,362 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 368126,173,277 - 126,448,544 (+)NCBINCBI36hg18NCBI36
Celera8122,293,246 - 122,568,218 (+)NCBI
Cytogenetic Map8q24.13NCBI
HuRef8121,427,877 - 121,703,222 (+)NCBIHuRef
CHM1_18126,144,698 - 126,419,607 (+)NCBICHM1_1
Nsmce2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391559,246,047 - 59,473,538 (+)NCBIGRCm39mm39
GRCm39 Ensembl1559,246,096 - 59,473,533 (+)Ensembl
GRCm381559,374,198 - 59,601,689 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1559,374,247 - 59,601,684 (+)EnsemblGRCm38mm10GRCm38
MGSCv371559,205,753 - 59,433,239 (+)NCBIGRCm37mm9NCBIm37
MGSCv361559,203,928 - 59,431,364 (+)NCBImm8
Celera1560,905,217 - 61,133,508 (+)NCBICelera
Cytogenetic Map15D1NCBI
Nsmce2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2790,936,112 - 91,173,435 (+)NCBI
Rnor_6.0 Ensembl799,677,290 - 99,900,764 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0799,677,295 - 99,900,765 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.07100,263,539 - 100,486,903 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4796,167,635 - 96,393,594 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1796,201,864 - 96,427,823 (+)NCBI
Celera787,697,871 - 87,919,520 (+)NCBICelera
Cytogenetic Map7q33NCBI
Nsmce2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955461201,764 - 451,776 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955461199,356 - 451,716 (+)NCBIChiLan1.0ChiLan1.0
NSMCE2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.18124,529,245 - 124,803,354 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl8124,529,268 - 124,803,114 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v08121,777,986 - 122,052,094 (+)NCBIMhudiblu_PPA_v0panPan3
NSMCE2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11323,078,143 - 23,288,302 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1323,078,173 - 23,288,304 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1323,042,326 - 23,261,292 (+)NCBI
ROS_Cfam_1.01323,419,977 - 23,634,235 (+)NCBI
UMICH_Zoey_3.11323,140,666 - 23,355,264 (+)NCBI
UNSW_CanFamBas_1.01323,249,898 - 23,462,275 (+)NCBI
UU_Cfam_GSD_1.01323,492,960 - 23,706,136 (+)NCBI
Nsmce2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530315,021,038 - 15,241,228 (-)NCBI
SpeTri2.0NW_00493647022,447,278 - 22,667,302 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NSMCE2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl414,358,649 - 14,598,092 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1414,359,323 - 14,598,192 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2414,948,825 - 15,035,641 (-)NCBISscrofa10.2Sscrofa10.2susScr3
NSMCE2
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18119,679,090 - 119,949,212 (+)NCBI
ChlSab1.1 Ensembl8119,691,106 - 119,949,587 (+)Ensembl
Vero_WHO_p1.0NW_02366603920,225,964 - 20,495,843 (-)NCBI
Nsmce2
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473529,915,007 - 30,166,564 (-)NCBI

Position Markers
D8S1461  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378126,287,206 - 126,287,328UniSTSGRCh37
Build 368126,356,388 - 126,356,510RGDNCBI36
Celera8122,476,558 - 122,476,674RGD
Cytogenetic Map8q24.13UniSTS
HuRef8121,611,552 - 121,611,668UniSTS
Marshfield Genetic Map8135.08UniSTS
Marshfield Genetic Map8135.08RGD
deCODE Assembly Map8129.33UniSTS
SHGC-33154  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378126,379,192 - 126,379,316UniSTSGRCh37
Build 368126,448,374 - 126,448,498RGDNCBI36
Celera8122,568,043 - 122,568,167RGD
Cytogenetic Map8q24.13UniSTS
HuRef8121,703,047 - 121,703,171UniSTS
TNG Radiation Hybrid Map861228.0UniSTS
Stanford-G3 RH Map83843.0UniSTS
GeneMap99-GB4 RH Map8476.51UniSTS
Whitehead-RH Map8639.7UniSTS
NCBI RH Map81461.6UniSTS
GeneMap99-G3 RH Map83933.0UniSTS
RH36272  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378126,229,962 - 126,230,080UniSTSGRCh37
Build 368126,299,144 - 126,299,262RGDNCBI36
Celera8122,419,307 - 122,419,425RGD
Cytogenetic Map8q24.13UniSTS
HuRef8121,553,677 - 121,553,795UniSTS
GeneMap99-GB4 RH Map8476.41UniSTS
NCBI RH Map81463.9UniSTS
D8S1571E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378126,260,157 - 126,260,235UniSTSGRCh37
Build 368126,329,339 - 126,329,417RGDNCBI36
Celera8122,449,499 - 122,449,577RGD
Cytogenetic Map8q24.13UniSTS
HuRef8121,582,169 - 121,582,247UniSTS
HuRef8121,584,666 - 121,584,744UniSTS
D8S1688  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378126,321,368 - 126,321,490UniSTSGRCh37
Build 368126,390,550 - 126,390,672RGDNCBI36
Celera8122,510,709 - 122,510,831RGD
Cytogenetic Map8q24.13UniSTS
HuRef8121,645,708 - 121,645,830UniSTS
SHGC-154637  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378126,142,320 - 126,142,667UniSTSGRCh37
Build 368126,211,502 - 126,211,849RGDNCBI36
Celera8122,331,673 - 122,332,020RGD
Cytogenetic Map8q24.13UniSTS
HuRef8121,466,113 - 121,466,460UniSTS
TNG Radiation Hybrid Map861086.0UniSTS
D8S371  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378126,141,764 - 126,142,007UniSTSGRCh37
Build 368126,210,946 - 126,211,189RGDNCBI36
Celera8122,331,119 - 122,331,360RGD
Cytogenetic Map8q24.13UniSTS
HuRef8121,465,559 - 121,465,800UniSTS
RH11704  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378126,251,564 - 126,251,758UniSTSGRCh37
Build 368126,320,746 - 126,320,940RGDNCBI36
Celera8122,440,906 - 122,441,100RGD
Cytogenetic Map8q24.13UniSTS
HuRef8121,575,277 - 121,575,471UniSTS
GeneMap99-GB4 RH Map8478.86UniSTS
A009A17  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378126,379,090 - 126,379,297UniSTSGRCh37
Build 368126,448,272 - 126,448,479RGDNCBI36
Celera8122,567,941 - 122,568,148RGD
Cytogenetic Map8q24.13UniSTS
HuRef8121,702,945 - 121,703,152UniSTS
GeneMap99-GB4 RH Map8478.86UniSTS
RH36327  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378126,309,632 - 126,309,747UniSTSGRCh37
Build 368126,378,814 - 126,378,929RGDNCBI36
Celera8122,498,976 - 122,499,091RGD
Cytogenetic Map8q24.13UniSTS
HuRef8121,633,972 - 121,634,087UniSTS
GeneMap99-GB4 RH Map8476.51UniSTS
G20371  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378126,320,038 - 126,320,153UniSTSGRCh37
Build 368126,389,220 - 126,389,335RGDNCBI36
Celera8122,509,379 - 122,509,494RGD
Cytogenetic Map8q24.13UniSTS
HuRef8121,644,378 - 121,644,493UniSTS
A005O09  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378126,320,038 - 126,320,153UniSTSGRCh37
Build 368126,389,220 - 126,389,335RGDNCBI36
Celera8122,509,379 - 122,509,494RGD
Cytogenetic Map8q24.13UniSTS
HuRef8121,644,378 - 121,644,493UniSTS
GeneMap99-GB4 RH Map8476.51UniSTS
NCBI RH Map81472.9UniSTS
SHGC-56887  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378126,194,594 - 126,194,781UniSTSGRCh37
Build 368126,263,776 - 126,263,963RGDNCBI36
Celera8122,383,939 - 122,384,126RGD
Cytogenetic Map8q24.13UniSTS
HuRef8121,518,328 - 121,518,515UniSTS
TNG Radiation Hybrid Map861117.0UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1723
Count of miRNA genes:788
Interacting mature miRNAs:892
Transcripts:ENST00000287437, ENST00000517315, ENST00000517532, ENST00000518013, ENST00000518146, ENST00000519010, ENST00000519712, ENST00000520866, ENST00000521460, ENST00000522563, ENST00000523549, ENST00000523741, ENST00000523824
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 1395 1245 794 203 861 144 3008 1025 780 278 1149 1200 76 1 823 1885 5 2
Low 1044 1736 932 421 1083 321 1348 1169 2953 141 311 413 99 381 903 1
Below cutoff 10 7 3 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_053069 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001349485 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001349486 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001349487 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_173685 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_146191 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_146192 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011516974 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011516975 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013330 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013331 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013332 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013333 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013334 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447130 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA580621 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC084083 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC126366 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK057002 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX119125 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC032797 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM993808 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU942315 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB217595 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF125232 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF125240 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF125241 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000287437   ⟹   ENSP00000287437
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8125,091,860 - 125,367,120 (+)Ensembl
RefSeq Acc Id: ENST00000517315   ⟹   ENSP00000428846
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8125,124,144 - 125,367,118 (+)Ensembl
RefSeq Acc Id: ENST00000517532   ⟹   ENSP00000429612
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8125,091,844 - 125,357,771 (+)Ensembl
RefSeq Acc Id: ENST00000518013   ⟹   ENSP00000431002
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8125,091,864 - 125,102,464 (+)Ensembl
RefSeq Acc Id: ENST00000518146   ⟹   ENSP00000430313
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8125,091,879 - 125,182,271 (+)Ensembl
RefSeq Acc Id: ENST00000519010   ⟹   ENSP00000481615
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8125,091,844 - 125,182,519 (+)Ensembl
RefSeq Acc Id: ENST00000519712   ⟹   ENSP00000429014
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8125,102,358 - 125,182,430 (+)Ensembl
RefSeq Acc Id: ENST00000520866   ⟹   ENSP00000478256
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8125,091,844 - 125,182,796 (+)Ensembl
RefSeq Acc Id: ENST00000521460
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8125,363,026 - 125,367,116 (+)Ensembl
RefSeq Acc Id: ENST00000522563   ⟹   ENSP00000430668
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8125,091,870 - 125,367,075 (+)Ensembl
RefSeq Acc Id: ENST00000523549
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8125,102,319 - 125,156,272 (+)Ensembl
RefSeq Acc Id: ENST00000523741   ⟹   ENSP00000429383
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8125,091,679 - 125,182,256 (+)Ensembl
RefSeq Acc Id: ENST00000523824
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8125,091,870 - 125,151,369 (+)Ensembl
RefSeq Acc Id: NM_001349485   ⟹   NP_001336414
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388125,091,860 - 125,367,120 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001349486   ⟹   NP_001336415
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388125,091,860 - 125,367,120 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001349487   ⟹   NP_001336416
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388125,091,860 - 125,182,575 (+)NCBI
Sequence:
RefSeq Acc Id: NM_173685   ⟹   NP_775956
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388125,091,860 - 125,367,120 (+)NCBI
GRCh378126,104,083 - 126,379,367 (+)RGD
Build 368126,173,277 - 126,448,544 (+)NCBI Archive
Celera8122,293,246 - 122,568,218 (+)RGD
HuRef8121,427,877 - 121,703,222 (+)RGD
CHM1_18126,144,698 - 126,419,607 (+)NCBI
Sequence:
RefSeq Acc Id: NR_146191
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388125,091,860 - 125,367,120 (+)NCBI
Sequence:
RefSeq Acc Id: NR_146192
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388125,091,860 - 125,182,575 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011516974   ⟹   XP_011515276
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388125,091,875 - 125,367,125 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011516975   ⟹   XP_011515277
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388125,091,821 - 125,367,125 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017013330   ⟹   XP_016868819
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388125,129,788 - 125,367,125 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017013331   ⟹   XP_016868820
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388125,091,869 - 125,367,125 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017013332   ⟹   XP_016868821
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388125,129,770 - 125,363,293 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017013333   ⟹   XP_016868822
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388125,091,870 - 125,367,125 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017013334   ⟹   XP_016868823
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388125,129,749 - 125,195,872 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024447130   ⟹   XP_024302898
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388125,091,779 - 125,367,125 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_775956   ⟸   NM_173685
- Peptide Label: isoform 1
- UniProtKB: Q96MF7 (UniProtKB/Swiss-Prot),   A0A024R9J6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011515277   ⟸   XM_011516975
- Peptide Label: isoform X2
- UniProtKB: Q96MF7 (UniProtKB/Swiss-Prot),   A0A024R9J6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011515276   ⟸   XM_011516974
- Peptide Label: isoform X2
- UniProtKB: Q96MF7 (UniProtKB/Swiss-Prot),   A0A024R9J6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016868820   ⟸   XM_017013331
- Peptide Label: isoform X2
- UniProtKB: Q96MF7 (UniProtKB/Swiss-Prot),   A0A024R9J6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016868822   ⟸   XM_017013333
- Peptide Label: isoform X4
- UniProtKB: E5RFJ1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016868823   ⟸   XM_017013334
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_016868821   ⟸   XM_017013332
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016868819   ⟸   XM_017013330
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_024302898   ⟸   XM_024447130
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: NP_001336415   ⟸   NM_001349486
- Peptide Label: isoform 1
- Sequence:
RefSeq Acc Id: NP_001336414   ⟸   NM_001349485
- Peptide Label: isoform 1
- Sequence:
RefSeq Acc Id: NP_001336416   ⟸   NM_001349487
- Peptide Label: isoform 2
- Sequence:
RefSeq Acc Id: ENSP00000429612   ⟸   ENST00000517532
RefSeq Acc Id: ENSP00000428846   ⟸   ENST00000517315
RefSeq Acc Id: ENSP00000430313   ⟸   ENST00000518146
RefSeq Acc Id: ENSP00000431002   ⟸   ENST00000518013
RefSeq Acc Id: ENSP00000481615   ⟸   ENST00000519010
RefSeq Acc Id: ENSP00000429014   ⟸   ENST00000519712
RefSeq Acc Id: ENSP00000478256   ⟸   ENST00000520866
RefSeq Acc Id: ENSP00000430668   ⟸   ENST00000522563
RefSeq Acc Id: ENSP00000287437   ⟸   ENST00000287437
RefSeq Acc Id: ENSP00000429383   ⟸   ENST00000523741
Protein Domains
SP-RING-type

Promoters
RGD ID:7214163
Promoter ID:EPDNEW_H12827
Type:initiation region
Name:NSMCE2_1
Description:NSE2/MMS21 homolog, SMC5-SMC6 complex SUMO ligase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388125,091,860 - 125,091,920EPDNEW
RGD ID:6806822
Promoter ID:HG_KWN:62068
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_014846,   NM_173685,   UC003YRV.1
Position:
Human AssemblyChrPosition (strand)Source
Build 368126,172,986 - 126,173,486 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8q24.13(chr8:124125245-125337217)x3 copy number gain See cases [RCV000050762] Chr8:124125245..125337217 [GRCh38]
Chr8:125137486..126349459 [GRCh37]
Chr8:125206667..126418641 [NCBI36]
Chr8:8q24.13
pathogenic
GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3 copy number gain See cases [RCV000050638] Chr8:113580402..145054634 [GRCh38]
Chr8:114592631..146280020 [GRCh37]
Chr8:114661807..146250824 [NCBI36]
Chr8:8q23.3-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:95606052-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] Chr8:95606052..145054775 [GRCh38]
Chr8:96618280..146280161 [GRCh37]
Chr8:96687456..146250965 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000053678] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q23.3-24.21(chr8:113288454-126716087)x1 copy number loss See cases [RCV000054301] Chr8:113288454..126716087 [GRCh38]
Chr8:114300683..127728332 [GRCh37]
Chr8:114369859..127797514 [NCBI36]
Chr8:8q23.3-24.21
pathogenic
NM_173685.2(NSMCE2):c.419-26284A>T single nucleotide variant Lung cancer [RCV000107012] Chr8:125330935 [GRCh38]
Chr8:126343177 [GRCh37]
Chr8:8q24.13
uncertain significance
GRCh38/hg38 8q24.13-24.21(chr8:122454392-128513076)x3 copy number gain See cases [RCV000133620] Chr8:122454392..128513076 [GRCh38]
Chr8:123466631..129525322 [GRCh37]
Chr8:123535812..129594504 [NCBI36]
Chr8:8q24.13-24.21
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3 copy number gain See cases [RCV000134353] Chr8:94682154..145068656 [GRCh38]
Chr8:95694382..146294042 [GRCh37]
Chr8:95763558..146264846 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.13(chr8:124895891-125399814)x3 copy number gain See cases [RCV000134345] Chr8:124895891..125399814 [GRCh38]
Chr8:125908133..126412056 [GRCh37]
Chr8:125977314..126481238 [NCBI36]
Chr8:8q24.13
uncertain significance
GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3 copy number gain See cases [RCV000135621] Chr8:86300584..137022587 [GRCh38]
Chr8:87312813..138034830 [GRCh37]
Chr8:87381929..138104012 [NCBI36]
Chr8:8q21.3-24.23
pathogenic|likely pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3 copy number gain See cases [RCV000137346] Chr8:124498498..145068712 [GRCh38]
Chr8:125510739..146294098 [GRCh37]
Chr8:125579920..146264902 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 copy number gain See cases [RCV000138551] Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3 copy number gain See cases [RCV000140447] Chr8:97382873..145070385 [GRCh38]
Chr8:98395101..146295771 [GRCh37]
Chr8:98464277..146266575 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.13(chr8:125089748-125243024)x1 copy number loss See cases [RCV000139653] Chr8:125089748..125243024 [GRCh38]
Chr8:126101990..126255266 [GRCh37]
Chr8:126171172..126324448 [NCBI36]
Chr8:8q24.13
uncertain significance
GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3 copy number gain See cases [RCV000139539] Chr8:46031340..139285494 [GRCh38]
Chr8:46942962..140297737 [GRCh37]
Chr8:47062127..140366919 [NCBI36]
Chr8:8q11.1-24.3
pathogenic
GRCh38/hg38 8q24.13(chr8:125084554-125157061)x1 copy number loss See cases [RCV000141375] Chr8:125084554..125157061 [GRCh38]
Chr8:126096796..126169303 [GRCh37]
Chr8:126165978..126238485 [NCBI36]
Chr8:8q24.13
uncertain significance
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3 copy number gain See cases [RCV000141694] Chr8:100867343..145070385 [GRCh38]
Chr8:101879571..146295771 [GRCh37]
Chr8:101948747..146266575 [NCBI36]
Chr8:8q22.3-24.3
pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3 copy number gain See cases [RCV000142810] Chr8:103306336..145068712 [GRCh38]
Chr8:104318564..146294098 [GRCh37]
Chr8:104387740..146264902 [NCBI36]
Chr8:8q22.3-24.3
pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 copy number gain See cases [RCV000143659] Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3
pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000148117] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
NM_173685.4(NSMCE2):c.346del (p.Ser116fs) deletion Seckel syndrome 10 [RCV000412505] Chr8:125182183 [GRCh38]
Chr8:126194425 [GRCh37]
Chr8:8q24.13
pathogenic
NM_173685.4(NSMCE2):c.697_700dup (p.Ala234fs) duplication Seckel syndrome 10 [RCV000412587] Chr8:125366837..125366838 [GRCh38]
Chr8:126379079..126379080 [GRCh37]
Chr8:8q24.13
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4 copy number gain See cases [RCV000448954] Chr8:98432250..146222672 [GRCh37]
Chr8:8q22.1-24.3
pathogenic
GRCh37/hg19 8q24.13-24.21(chr8:125539280-128129372)x1 copy number loss See cases [RCV000510509] Chr8:125539280..128129372 [GRCh37]
Chr8:8q24.13-24.21
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.3-24.3(chr8:93047482-141355635)x3 copy number gain See cases [RCV000511761] Chr8:93047482..141355635 [GRCh37]
Chr8:8q21.3-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 copy number gain See cases [RCV000511002] Chr8:86841154..146295771 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3 copy number gain See cases [RCV000510854] Chr8:86841228..142689874 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8q23.3-24.3(chr8:114853126-146295771)x3 copy number gain See cases [RCV000512401] Chr8:114853126..146295771 [GRCh37]
Chr8:8q23.3-24.3
pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3
pathogenic
GRCh37/hg19 8q24.13(chr8:126358525-126559524)x3 copy number gain not provided [RCV000682941] Chr8:126358525..126559524 [GRCh37]
Chr8:8q24.13
uncertain significance
GRCh37/hg19 8q24.12-24.3(chr8:121694649-146295771)x3 copy number gain not provided [RCV000683044] Chr8:121694649..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
Single allele deletion Trichorhinophalangeal dysplasia type I [RCV000735900] Chr8:114508086..129040004 [GRCh37]
Chr8:8q23.3-24.21
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.13(chr8:126082565-126611303)x3 copy number gain not provided [RCV000747819] Chr8:126082565..126611303 [GRCh37]
Chr8:8q24.13
benign
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_173685.4(NSMCE2):c.483C>T (p.Thr161=) single nucleotide variant not provided [RCV000887420] Chr8:125357283 [GRCh38]
Chr8:126369525 [GRCh37]
Chr8:8q24.13
benign
GRCh37/hg19 8q24.13-24.22(chr8:124120772-135265846)x1 copy number loss not provided [RCV000848438] Chr8:124120772..135265846 [GRCh37]
Chr8:8q24.13-24.22
pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:122193546-146295771)x3 copy number gain not provided [RCV000849762] Chr8:122193546..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
NM_173685.4(NSMCE2):c.394C>T (p.Gln132Ter) single nucleotide variant not provided [RCV000813994] Chr8:125182232 [GRCh38]
Chr8:126194474 [GRCh37]
Chr8:8q24.13
pathogenic
GRCh37/hg19 8q24.13(chr8:126179381-126241524)x1 copy number loss not provided [RCV000846777] Chr8:126179381..126241524 [GRCh37]
Chr8:8q24.13
pathogenic
GRCh37/hg19 8q24.13-24.21(chr8:123074293-131113892)x1 copy number loss not provided [RCV000848164] Chr8:123074293..131113892 [GRCh37]
Chr8:8q24.13-24.21
pathogenic
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3
pathogenic
GRCh37/hg19 8q24.13(chr8:126178155-126244643)x1 copy number loss not provided [RCV001006143] Chr8:126178155..126244643 [GRCh37]
Chr8:8q24.13
likely benign
GRCh37/hg19 8q24.13-24.3(chr8:125496223-146295771)x3 copy number gain not provided [RCV000845705] Chr8:125496223..146295771 [GRCh37]
Chr8:8q24.13-24.3
pathogenic
NM_173685.4(NSMCE2):c.377T>G (p.Phe126Cys) single nucleotide variant not provided [RCV000889978] Chr8:125182215 [GRCh38]
Chr8:126194457 [GRCh37]
Chr8:8q24.13
benign
GRCh37/hg19 8q24.13(chr8:124878368-126737708)x3 copy number gain not provided [RCV001006141] Chr8:124878368..126737708 [GRCh37]
Chr8:8q24.13
uncertain significance
NM_173685.4(NSMCE2):c.465T>G (p.Asp155Glu) single nucleotide variant Global developmental delay [RCV001093634]   uncertain significance
GRCh37/hg19 8q24.12-24.3(chr8:121042467-146295771)x3 copy number gain not provided [RCV001006140] Chr8:121042467..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
NM_173685.4(NSMCE2):c.419-18C>T single nucleotide variant Seckel syndrome 10 [RCV001335548] Chr8:125357201 [GRCh38]
Chr8:126369443 [GRCh37]
Chr8:8q24.13
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:26513 AgrOrtholog
COSMIC NSMCE2 COSMIC
Ensembl Genes ENSG00000156831 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000287437 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000428846 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000429014 UniProtKB/TrEMBL
  ENSP00000429383 UniProtKB/TrEMBL
  ENSP00000429612 UniProtKB/TrEMBL
  ENSP00000430313 UniProtKB/TrEMBL
  ENSP00000430668 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000431002 UniProtKB/TrEMBL
  ENSP00000478256 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000481615 UniProtKB/TrEMBL
Ensembl Transcript ENST00000287437 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000517315 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000517532 UniProtKB/TrEMBL
  ENST00000518013 UniProtKB/TrEMBL
  ENST00000518146 UniProtKB/TrEMBL
  ENST00000519010 UniProtKB/TrEMBL
  ENST00000519712 UniProtKB/TrEMBL
  ENST00000520866 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000522563 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000523741 UniProtKB/TrEMBL
Gene3D-CATH 3.30.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000156831 GTEx
HGNC ID HGNC:26513 ENTREZGENE
Human Proteome Map NSMCE2 Human Proteome Map
InterPro Nse2(Mms21) UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_MIZ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_RING/FYVE/PHD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:286053 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 286053 ENTREZGENE
OMIM 617246 OMIM
  617253 OMIM
PANTHER PTHR21330 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam zf-Nse UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA142672355 PharmGKB
PROSITE ZF_SP_RING UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024R9J6 ENTREZGENE, UniProtKB/TrEMBL
  A0A087WTZ8_HUMAN UniProtKB/TrEMBL
  E5RFJ1 ENTREZGENE, UniProtKB/TrEMBL
  E5RG00_HUMAN UniProtKB/TrEMBL
  E5RHW9_HUMAN UniProtKB/TrEMBL
  E5RIM1_HUMAN UniProtKB/TrEMBL
  E5RK09_HUMAN UniProtKB/TrEMBL
  H0YB96_HUMAN UniProtKB/TrEMBL
  NSE2_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary Q8N549 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2018-02-27 NSMCE2  NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase    NSE2/MMS21 homolog, SMC5-SMC6 complex SUMO ligase  Symbol and/or name change 5135510 APPROVED
2015-08-11 NSMCE2  NSE2/MMS21 homolog, SMC5-SMC6 complex SUMO ligase    non-SMC element 2, MMS21 homolog (S. cerevisiae)  Symbol and/or name change 5135510 APPROVED