UBE2N (ubiquitin conjugating enzyme E2 N) - Rat Genome Database

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Gene: UBE2N (ubiquitin conjugating enzyme E2 N) Homo sapiens
Analyze
Symbol: UBE2N
Name: ubiquitin conjugating enzyme E2 N
RGD ID: 1348630
HGNC Page HGNC:12492
Description: Enables several functions, including ubiquitin conjugating enzyme activity; ubiquitin protein ligase binding activity; and ubiquitin-protein transferase activator activity. Involved in several processes, including DNA repair; positive regulation of nitrogen compound metabolic process; and regulation of intracellular signal transduction. Located in cytosol and nucleus. Part of UBC13-MMS2 complex; UBC13-UEV1A complex; and ubiquitin ligase complex. Is active in ubiquitin conjugating enzyme complex.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: bendless-like ubiquitin conjugating enzyme; bendless-like ubiquitin-conjugating enzyme; E2 ubiquitin-conjugating enzyme N; epididymis secretory protein Li 71; HEL-S-71; MGC131857; MGC8489; UBC13; UbcH-ben; UbcH13; UBCHBEN; ubiquitin carrier protein N; ubiquitin conjugating enzyme E2N; ubiquitin-conjugating enzyme E2 N; ubiquitin-conjugating enzyme E2N (homologous to yeast UBC13); ubiquitin-conjugating enzyme E2N (UBC13 homolog, yeast); ubiquitin-protein ligase N; yeast UBC13 homolog
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: LOC100506133   LOC100507422   UBE2NP1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381293,405,684 - 93,441,947 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1293,405,673 - 93,441,947 (-)EnsemblGRCh38hg38GRCh38
GRCh371293,799,460 - 93,835,723 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361292,326,219 - 92,360,157 (-)NCBINCBI36Build 36hg18NCBI36
Build 341292,304,555 - 92,338,494NCBI
Celera1293,472,777 - 93,506,718 (-)NCBICelera
Cytogenetic Map12q22NCBI
HuRef1290,868,751 - 90,902,701 (-)NCBIHuRef
CHM1_11293,767,035 - 93,800,979 (-)NCBICHM1_1
T2T-CHM13v2.01293,386,662 - 93,422,932 (-)NCBIT2T-CHM13v2.0
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
1,2-dimethylhydrazine  (ISO)
1,3-dinitrobenzene  (ISO)
2,3',4,4',5-Pentachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dinitrotoluene  (ISO)
2-amino-14,16-dimethyloctadecan-3-ol  (EXP)
5-methoxy-2-\{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl\}-1H-benzimidazole  (ISO)
6-propyl-2-thiouracil  (ISO)
aflatoxin B1  (ISO)
all-trans-retinoic acid  (EXP,ISO)
amiodarone  (ISO)
ammonium chloride  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (EXP)
atrazine  (EXP)
benzbromarone  (ISO)
benzo[a]pyrene  (EXP)
bisphenol A  (EXP,ISO)
butyric acid  (EXP)
cadmium atom  (ISO)
cadmium dichloride  (EXP)
carbon nanotube  (ISO)
CGP 52608  (EXP)
chloropicrin  (EXP)
choline  (ISO)
cisplatin  (EXP)
clofibrate  (ISO)
cobalt dichloride  (EXP,ISO)
copper(II) sulfate  (EXP)
coumestrol  (EXP)
cyclosporin A  (EXP)
dieldrin  (EXP,ISO)
diethylstilbestrol  (EXP)
diuron  (EXP)
doxorubicin  (EXP)
ethanol  (ISO)
fenvalerate  (ISO)
flutamide  (ISO)
folic acid  (ISO)
fumonisin B1  (ISO)
geraniol  (EXP)
glafenine  (ISO)
gold atom  (EXP)
gold(0)  (EXP)
inulin  (ISO)
isobutanol  (EXP)
ivermectin  (EXP)
L-ethionine  (ISO)
L-methionine  (ISO)
mercury atom  (EXP)
mercury(0)  (EXP)
methamphetamine  (ISO)
methapyrilene  (ISO)
methidathion  (ISO)
methyl methanesulfonate  (EXP)
methylmercury chloride  (EXP)
Monobutylphthalate  (ISO)
nefazodone  (ISO)
nimesulide  (ISO)
nitrates  (ISO)
omeprazole  (ISO)
ozone  (EXP)
paracetamol  (ISO)
perfluorododecanoic acid  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
phlorizin  (ISO)
pirinixic acid  (ISO)
piroxicam  (EXP)
rotenone  (EXP,ISO)
sodium arsenite  (EXP)
sunitinib  (EXP)
T-2 toxin  (ISO)
temozolomide  (EXP)
tetrachloromethane  (ISO)
thapsigargin  (EXP)
thioacetamide  (ISO)
trichloroethene  (ISO)
triptonide  (ISO)
tunicamycin  (EXP)
valproic acid  (EXP)
vinclozolin  (ISO)
vorinostat  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

References

References - curated
# Reference Title Reference Citation
1. ATM protein kinase: the linchpin of cellular defenses to stress. Bhatti S, etal., Cell Mol Life Sci. 2011 Sep;68(18):2977-3006. doi: 10.1007/s00018-011-0683-9. Epub 2011 May 2.
2. Pathogen recognition by the innate immune system. Kumar H, etal., Int Rev Immunol. 2011 Feb;30(1):16-34.
3. Double-strand break repair: 53BP1 comes into focus. Panier S and Boulton SJ, Nat Rev Mol Cell Biol. 2014 Jan;15(1):7-18. doi: 10.1038/nrm3719. Epub 2013 Dec 11.
4. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
5. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
6. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
7. TLR-4, IL-1R and TNF-R signaling to NF-kappaB: variations on a common theme. Verstrepen L, etal., Cell Mol Life Sci. 2008 Oct;65(19):2964-78.
8. Interleukin-1 (IL-1) pathway. Weber A, etal., Sci Signal. 2010 Jan 19;3(105):cm1. doi: 10.1126/scisignal.3105cm1.
Additional References at PubMed
PMID:8889548   PMID:8902611   PMID:10089880   PMID:11057907   PMID:11473244   PMID:11473255   PMID:11504715   PMID:12039045   PMID:12477932   PMID:12569095   PMID:12705856   PMID:12834344  
PMID:12847084   PMID:12881723   PMID:14517261   PMID:14562038   PMID:14695475   PMID:14702039   PMID:15125833   PMID:15147900   PMID:15231748   PMID:15258597   PMID:15276183   PMID:15327770  
PMID:15489334   PMID:15749714   PMID:16009940   PMID:16112642   PMID:16122702   PMID:16129784   PMID:16130169   PMID:16196087   PMID:16215985   PMID:16307917   PMID:16396496   PMID:16547522  
PMID:17000756   PMID:17060341   PMID:17108083   PMID:17135271   PMID:17327397   PMID:17349954   PMID:17420289   PMID:17426036   PMID:17550899   PMID:17553932   PMID:17709375   PMID:17846173  
PMID:17873885   PMID:17942533   PMID:17964296   PMID:17994549   PMID:17997719   PMID:18029035   PMID:18032921   PMID:18077395   PMID:18082144   PMID:18178771   PMID:18316726   PMID:18391951  
PMID:18410486   PMID:18615712   PMID:18617513   PMID:18678647   PMID:18710948   PMID:18719106   PMID:18838541   PMID:19013454   PMID:19034380   PMID:19165527   PMID:19203578   PMID:19203579  
PMID:19269966   PMID:19322201   PMID:19340006   PMID:19393081   PMID:19465916   PMID:19549727   PMID:19615732   PMID:19651615   PMID:19690564   PMID:19712108   PMID:19738201   PMID:19810754  
PMID:19880420   PMID:20023648   PMID:20047764   PMID:20061386   PMID:20146531   PMID:20458337   PMID:20467437   PMID:20546612   PMID:20553626   PMID:20577214   PMID:20613989   PMID:20725033  
PMID:20864041   PMID:20940148   PMID:21048031   PMID:21113135   PMID:21114314   PMID:21143188   PMID:21204785   PMID:21226485   PMID:21319273   PMID:21512569   PMID:21512573   PMID:21518764  
PMID:21572451   PMID:21575904   PMID:21622030   PMID:21659603   PMID:21694720   PMID:21734303   PMID:21774837   PMID:21866272   PMID:21873635   PMID:21903422   PMID:21911360   PMID:21965653  
PMID:22055568   PMID:22184250   PMID:22266820   PMID:22325355   PMID:22367539   PMID:22407319   PMID:22433856   PMID:22493164   PMID:22589545   PMID:22679021   PMID:22681889   PMID:22693631  
PMID:22797923   PMID:22814251   PMID:22904075   PMID:22939629   PMID:23007157   PMID:23105008   PMID:23115235   PMID:23131556   PMID:23255131   PMID:23268447   PMID:23376485   PMID:23418353  
PMID:23453969   PMID:23533145   PMID:23533280   PMID:23542009   PMID:23633953   PMID:23695783   PMID:23751493   PMID:23824909   PMID:23885119   PMID:23892723   PMID:23965929   PMID:24023840  
PMID:24071738   PMID:24556694   PMID:24610393   PMID:24610907   PMID:24732096   PMID:24905733   PMID:24906799   PMID:24980434   PMID:25022892   PMID:25036637   PMID:25172487   PMID:25189770  
PMID:25225294   PMID:25260751   PMID:25403879   PMID:25476932   PMID:25527291   PMID:25548215   PMID:25872870   PMID:25909880   PMID:25936802   PMID:26010904   PMID:26148049   PMID:26212332  
PMID:26217791   PMID:26285145   PMID:26344197   PMID:26489670   PMID:26496610   PMID:26546463   PMID:26656854   PMID:26711259   PMID:26752685   PMID:26760575   PMID:26774286   PMID:27173435  
PMID:27182664   PMID:27259994   PMID:27312108   PMID:27425606   PMID:27634302   PMID:27684187   PMID:27695001   PMID:27791197   PMID:27909234   PMID:27918549   PMID:28137758   PMID:28244869  
PMID:28292929   PMID:28330616   PMID:28335037   PMID:28458162   PMID:28469175   PMID:28515276   PMID:28628639   PMID:28681414   PMID:28757353   PMID:28763789   PMID:28846114   PMID:28993672  
PMID:29053956   PMID:29069608   PMID:29117863   PMID:29128334   PMID:29367628   PMID:29432170   PMID:29496391   PMID:29523790   PMID:29537486   PMID:29568061   PMID:29626159   PMID:29642013  
PMID:29662619   PMID:29667579   PMID:29676528   PMID:29704455   PMID:29845934   PMID:29950522   PMID:29973362   PMID:30016968   PMID:30097011   PMID:30342007   PMID:30357346   PMID:30420781  
PMID:30463901   PMID:30503508   PMID:30529286   PMID:30572598   PMID:30631154   PMID:30696947   PMID:30718280   PMID:30884854   PMID:30979779   PMID:31006531   PMID:31046837   PMID:31048496  
PMID:31074699   PMID:31120930   PMID:31123703   PMID:31182584   PMID:31298480   PMID:31319803   PMID:31373842   PMID:31409639   PMID:31417184   PMID:31470122   PMID:31536960   PMID:31578830  
PMID:31582740   PMID:31586073   PMID:31638574   PMID:31740976   PMID:31741433   PMID:31792955   PMID:31980649   PMID:31985874   PMID:32022419   PMID:32049508   PMID:32196955   PMID:32265276  
PMID:32398758   PMID:32416067   PMID:32488130   PMID:32659264   PMID:32687490   PMID:32707033   PMID:32913203   PMID:33239621   PMID:33288957   PMID:33357432   PMID:33373584   PMID:33536170  
PMID:33545068   PMID:33619271   PMID:33650289   PMID:33842849   PMID:33957083   PMID:33961781   PMID:34079125   PMID:34117217   PMID:34160887   PMID:34321665   PMID:34373451   PMID:34490261  
PMID:34497368   PMID:34591612   PMID:34623328   PMID:34642328   PMID:34799425   PMID:34831026   PMID:34857952   PMID:35032548   PMID:35065966   PMID:35107860   PMID:35253629   PMID:35256949  
PMID:35263148   PMID:35271311   PMID:35355521   PMID:35384245   PMID:35500217   PMID:35545034   PMID:35563538   PMID:35671810   PMID:35831314   PMID:35893676   PMID:35927303   PMID:35944360  
PMID:36027913   PMID:36114006   PMID:36142504   PMID:36179399   PMID:36215168   PMID:36244648   PMID:36481767   PMID:36517590   PMID:36563856   PMID:36634849   PMID:36800290   PMID:36822329  
PMID:37827155   PMID:37866880   PMID:38113892  


Genomics

Comparative Map Data
UBE2N
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381293,405,684 - 93,441,947 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1293,405,673 - 93,441,947 (-)EnsemblGRCh38hg38GRCh38
GRCh371293,799,460 - 93,835,723 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361292,326,219 - 92,360,157 (-)NCBINCBI36Build 36hg18NCBI36
Build 341292,304,555 - 92,338,494NCBI
Celera1293,472,777 - 93,506,718 (-)NCBICelera
Cytogenetic Map12q22NCBI
HuRef1290,868,751 - 90,902,701 (-)NCBIHuRef
CHM1_11293,767,035 - 93,800,979 (-)NCBICHM1_1
T2T-CHM13v2.01293,386,662 - 93,422,932 (-)NCBIT2T-CHM13v2.0
Ube2n
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391095,351,024 - 95,381,520 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1095,351,007 - 95,381,519 (+)EnsemblGRCm39 Ensembl
GRCm381095,515,162 - 95,545,658 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1095,515,145 - 95,545,657 (+)EnsemblGRCm38mm10GRCm38
MGSCv371094,977,796 - 95,008,292 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361094,944,850 - 94,975,346 (+)NCBIMGSCv36mm8
Celera1097,490,812 - 97,521,349 (+)NCBICelera
Cytogenetic Map10C2NCBI
cM Map1049.41NCBI
Ube2n
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8732,041,190 - 32,071,252 (+)NCBIGRCr8
mRatBN7.2730,154,330 - 30,184,373 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl730,154,616 - 30,184,355 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx732,140,834 - 32,170,868 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0734,314,601 - 34,344,553 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0734,089,552 - 34,119,441 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0736,610,147 - 36,640,190 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl736,610,147 - 36,640,189 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0736,673,991 - 36,674,365 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4732,719,959 - 32,750,002 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1732,740,229 - 32,770,272 (+)NCBI
Celera727,227,481 - 27,257,458 (+)NCBICelera
Cytogenetic Map7q13NCBI
Ube2n
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540530,240,408 - 30,278,360 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495540530,240,402 - 30,278,362 (-)NCBIChiLan1.0ChiLan1.0
UBE2N
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v210101,450,349 - 101,486,347 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan112101,447,738 - 101,482,741 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01290,951,446 - 90,984,075 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11294,353,010 - 94,355,957 (-)NCBIpanpan1.1PanPan1.1panPan2
UBE2N
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11041,470,073 - 41,470,738 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1041,470,073 - 41,470,738 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1534,102,683 - 34,137,381 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01534,322,738 - 34,357,275 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1534,319,244 - 34,357,300 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11533,601,301 - 33,635,863 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01533,690,613 - 33,725,132 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01533,954,910 - 33,989,442 (-)NCBIUU_Cfam_GSD_1.0
Ube2n
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494526,350,027 - 26,359,632 (+)NCBIHiC_Itri_2
UBE2N
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl589,673,573 - 89,714,281 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1589,673,306 - 89,716,345 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2593,613,063 - 93,637,519 (+)NCBISscrofa10.2Sscrofa10.2susScr3
UBE2N
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11188,810,505 - 88,842,895 (-)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_023666037156,319,857 - 156,353,219 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ube2n
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462475013,432,661 - 13,457,776 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462475013,432,657 - 13,468,797 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in UBE2N
5 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 12q22(chr12:93374113-94267175)x3 copy number gain See cases [RCV000134720] Chr12:93374113..94267175 [GRCh38]
Chr12:93767889..94660951 [GRCh37]
Chr12:92292020..93185082 [NCBI36]
Chr12:12q22
uncertain significance
GRCh38/hg38 12q21.33-22(chr12:90996508-94872818)x1 copy number loss See cases [RCV000138659] Chr12:90996508..94872818 [GRCh38]
Chr12:91390285..95266594 [GRCh37]
Chr12:89914416..93790725 [NCBI36]
Chr12:12q21.33-22
likely pathogenic
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 copy number gain See cases [RCV000139555] Chr12:121271..133196807 [GRCh38]
Chr12:282465..133773393 [GRCh37]
Chr12:100698..132283466 [NCBI36]
Chr12:12p13.33-q24.33
pathogenic
GRCh38/hg38 12q21.33-24.11(chr12:91044318-109133210)x3 copy number gain See cases [RCV000142447] Chr12:91044318..109133210 [GRCh38]
Chr12:91438095..109571015 [GRCh37]
Chr12:89962226..108055398 [NCBI36]
Chr12:12q21.33-24.11
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 copy number gain See cases [RCV000258805] Chr12:1..133851895 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic|likely pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 copy number gain See cases [RCV000510482] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) copy number gain See cases [RCV000511643] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 copy number gain not provided [RCV000750246] Chr12:191619..133777645 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 copy number gain not provided [RCV000750253] Chr12:621220..133779118 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12q21.33-22(chr12:91621655-96014946)x1 copy number loss not provided [RCV000737994] Chr12:91621655..96014946 [GRCh37]
Chr12:12q21.33-22
uncertain significance
GRCh37/hg19 12q21.2-22(chr12:77737623-94330526)x1 copy number loss not provided [RCV000848027] Chr12:77737623..94330526 [GRCh37]
Chr12:12q21.2-22
pathogenic
NM_003348.4(UBE2N):c.337A>G (p.Ser113Gly) single nucleotide variant Inborn genetic diseases [RCV002905086] Chr12:93410815 [GRCh38]
Chr12:93804591 [GRCh37]
Chr12:12q22
uncertain significance
NM_003348.4(UBE2N):c.347A>G (p.Asn116Ser) single nucleotide variant Inborn genetic diseases [RCV002793950] Chr12:93410805 [GRCh38]
Chr12:93804581 [GRCh37]
Chr12:12q22
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2514
Count of miRNA genes:870
Interacting mature miRNAs:1006
Transcripts:ENST00000318066, ENST00000548946, ENST00000549490, ENST00000549833, ENST00000550657, ENST00000552442
Prediction methods:Microtar, 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.

Markers in Region
BCD1455  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371293,820,455 - 93,820,551UniSTSGRCh37
Build 361292,344,586 - 92,344,682RGDNCBI36
Celera1293,491,144 - 93,491,240RGD
Cytogenetic Map12q22UniSTS
HuRef1290,887,124 - 90,887,220UniSTS
GeneMap99-GB4 RH Map12360.43UniSTS
NCBI RH Map12599.9UniSTS
WI-19812  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371293,802,209 - 93,802,360UniSTSGRCh37
Build 361292,326,340 - 92,326,491RGDNCBI36
Celera1293,472,898 - 93,473,049RGD
Cytogenetic Map12q22UniSTS
HuRef1290,868,872 - 90,869,023UniSTS
GeneMap99-GB4 RH Map12358.22UniSTS
Whitehead-RH Map12460.3UniSTS
NCBI RH Map12593.5UniSTS
STS-N63414  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371293,802,191 - 93,802,405UniSTSGRCh37
Build 361292,326,322 - 92,326,536RGDNCBI36
Celera1293,472,880 - 93,473,094RGD
Cytogenetic Map12q22UniSTS
HuRef1290,868,854 - 90,869,068UniSTS
GeneMap99-GB4 RH Map12364.19UniSTS
NCBI RH Map12593.5UniSTS
NIB1585  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371293,802,179 - 93,802,329UniSTSGRCh37
Build 361292,326,310 - 92,326,460RGDNCBI36
Celera1293,472,868 - 93,473,018RGD
Cytogenetic Map12q22UniSTS
HuRef1290,868,842 - 90,868,992UniSTS
GeneMap99-GB4 RH Map12363.71UniSTS
Whitehead-RH Map12465.0UniSTS
NCBI RH Map12593.5UniSTS
RH80774  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapXq27.3UniSTS
Cytogenetic Map12q22UniSTS
GeneMap99-GB4 RH Map12362.04UniSTS


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 2430 2459 1623 526 1565 367 4357 2079 3579 412 1458 1609 175 1 1204 2788 6 2
Low 9 532 103 98 386 98 118 155 7 2 4
Below cutoff

Sequence


RefSeq Acc Id: ENST00000318066   ⟹   ENSP00000316176
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1293,405,684 - 93,441,947 (-)Ensembl
RefSeq Acc Id: ENST00000548946
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1293,405,673 - 93,407,323 (-)Ensembl
RefSeq Acc Id: ENST00000549490   ⟹   ENSP00000447009
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1293,409,763 - 93,441,898 (-)Ensembl
RefSeq Acc Id: ENST00000549833   ⟹   ENSP00000450260
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1293,409,742 - 93,441,256 (-)Ensembl
RefSeq Acc Id: ENST00000550657   ⟹   ENSP00000449352
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1293,408,371 - 93,441,943 (-)Ensembl
RefSeq Acc Id: ENST00000552442   ⟹   ENSP00000448352
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1293,409,801 - 93,441,935 (-)Ensembl
RefSeq Acc Id: NM_003348   ⟹   NP_003339
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381293,405,684 - 93,441,947 (-)NCBI
GRCh371293,802,088 - 93,836,026 (-)ENTREZGENE
Build 361292,326,219 - 92,360,157 (-)NCBI Archive
HuRef1290,868,751 - 90,902,701 (-)ENTREZGENE
CHM1_11293,767,035 - 93,800,979 (-)NCBI
T2T-CHM13v2.01293,386,662 - 93,422,932 (-)NCBI
Sequence:
RefSeq Acc Id: NP_003339   ⟸   NM_003348
- UniProtKB: Q16781 (UniProtKB/Swiss-Prot),   Q53Y81 (UniProtKB/Swiss-Prot),   P61088 (UniProtKB/Swiss-Prot),   V9HW41 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000450260   ⟸   ENST00000549833
RefSeq Acc Id: ENSP00000447009   ⟸   ENST00000549490
RefSeq Acc Id: ENSP00000449352   ⟸   ENST00000550657
RefSeq Acc Id: ENSP00000448352   ⟸   ENST00000552442
RefSeq Acc Id: ENSP00000316176   ⟸   ENST00000318066
Protein Domains
UBC core

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P61088-F1-model_v2 AlphaFold P61088 1-152 view protein structure

Promoters
RGD ID:6790581
Promoter ID:HG_KWN:16325
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_003348
Position:
Human AssemblyChrPosition (strand)Source
Build 361292,359,846 - 92,360,732 (-)MPROMDB
RGD ID:6851772
Promoter ID:EP73690
Type:single initiation site
Name:HS_UBE2N
Description:Ubiquitin-conjugating enzyme E2N (UBC13 homolog, yeast).
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 361292,359,850 - 92,359,910EPD
RGD ID:7225005
Promoter ID:EPDNEW_H18248
Type:initiation region
Name:UBE2N_1
Description:ubiquitin conjugating enzyme E2 N
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H18249  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381293,441,947 - 93,442,007EPDNEW
RGD ID:7225007
Promoter ID:EPDNEW_H18249
Type:initiation region
Name:UBE2N_2
Description:ubiquitin conjugating enzyme E2 N
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H18248  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381293,442,231 - 93,442,291EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:12492 AgrOrtholog
COSMIC UBE2N COSMIC
Ensembl Genes ENSG00000177889 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000318066 ENTREZGENE
  ENST00000318066.7 UniProtKB/Swiss-Prot
  ENST00000549490.1 UniProtKB/TrEMBL
  ENST00000549833.1 UniProtKB/TrEMBL
  ENST00000550657.1 UniProtKB/TrEMBL
  ENST00000552442.1 UniProtKB/TrEMBL
Gene3D-CATH 3.10.110.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000177889 GTEx
HGNC ID HGNC:12492 ENTREZGENE
Human Proteome Map UBE2N Human Proteome Map
InterPro UBQ-conjugat_E2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  UBQ-conjugating_AS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  UBQ-conjugating_enzyme/RWD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:7334 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 7334 ENTREZGENE
OMIM 603679 OMIM
PANTHER UBC CORE DOMAIN-CONTAINING PROTEIN UniProtKB/TrEMBL
  UBIQUITIN-CONJUGATING ENZYME UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  UBIQUITIN-CONJUGATING ENZYME E2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  UBIQUITIN-CONJUGATING ENZYME E2 UniProtKB/TrEMBL
Pfam UQ_con UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA37141 PharmGKB
PROSITE UBIQUITIN_CONJUGAT_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  UBIQUITIN_CONJUGAT_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART UBCc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF54495 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt F8VQQ8_HUMAN UniProtKB/TrEMBL
  F8VSD4_HUMAN UniProtKB/TrEMBL
  F8VV71_HUMAN UniProtKB/TrEMBL
  F8VZ29_HUMAN UniProtKB/TrEMBL
  P61088 ENTREZGENE
  Q16781 ENTREZGENE
  Q53Y81 ENTREZGENE
  UBE2N_HUMAN UniProtKB/Swiss-Prot
  V9HW41 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary Q16781 UniProtKB/Swiss-Prot
  Q53Y81 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-03-21 UBE2N  ubiquitin conjugating enzyme E2 N  UBE2N  ubiquitin conjugating enzyme E2N  Symbol and/or name change 5135510 APPROVED
2015-11-17 UBE2N  ubiquitin conjugating enzyme E2N  UBE2N  ubiquitin-conjugating enzyme E2N  Symbol and/or name change 5135510 APPROVED
2011-07-27 UBE2N  ubiquitin-conjugating enzyme E2N  UBE2N  ubiquitin-conjugating enzyme E2N (UBC13 homolog, yeast)  Symbol and/or name change 5135510 APPROVED