UBE2D2 (ubiquitin conjugating enzyme E2 D2) - Rat Genome Database

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Gene: UBE2D2 (ubiquitin conjugating enzyme E2 D2) Homo sapiens
Analyze
Symbol: UBE2D2
Name: ubiquitin conjugating enzyme E2 D2
RGD ID: 69475
HGNC Page HGNC:12475
Description: Enables ubiquitin conjugating enzyme activity and ubiquitin protein ligase activity. Involved in protein K48-linked ubiquitination and protein autoubiquitination. Located in extracellular exosome. Part of ubiquitin ligase complex.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: (E3-independent) E2 ubiquitin-conjugating enzyme D2; E2 ubiquitin-conjugating enzyme D2; E2(17)KB2; p53-regulated ubiquitin-conjugating enzyme 1; PUBC1; UBC4; UBC4/5; UBCH4; UBCH5B; ubiquitin carrier protein D2; ubiquitin conjugating enzyme E2D 2; ubiquitin-conjugating enzyme E2 D2; ubiquitin-conjugating enzyme E2(17)KB 2; ubiquitin-conjugating enzyme E2-17 kDa 2; ubiquitin-conjugating enzyme E2D 2 (homologous to yeast UBC4/5); ubiquitin-conjugating enzyme E2D 2 (UBC4/5 homolog, yeast); ubiquitin-protein ligase D2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: UBE2DNL  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh385139,526,240 - 139,628,434 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl5139,526,431 - 139,628,434 (+)EnsemblGRCh38hg38GRCh38
GRCh375138,940,924 - 139,008,019 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 365138,920,935 - 138,988,203 (+)NCBINCBI36Build 36hg18NCBI36
Build 345138,920,934 - 138,988,200NCBI
Celera5135,015,760 - 135,083,018 (+)NCBICelera
Cytogenetic Map5q31.2NCBI
HuRef5134,083,642 - 134,151,382 (+)NCBIHuRef
CHM1_15138,373,349 - 138,440,624 (+)NCBICHM1_1
T2T-CHM13v2.05140,086,420 - 140,153,498 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


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

Cellular Component

References

References - curated
# Reference Title Reference Citation
1. Defective ubiquitination of cerebral proteins in Alzheimer's disease. Lopez Salon M, etal., J Neurosci Res 2000 Oct 15;62(2):302-10.
2. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
4. A novel rat homolog of the Saccharomyces cerevisiae ubiquitin-conjugating enzymes UBC4 and UBC5 with distinct biochemical features is induced during spermatogenesis. Wing SS, etal., Mol Cell Biol 1996 Aug;16(8):4064-72.
Additional References at PubMed
PMID:7724550   PMID:8090726   PMID:8530467   PMID:8889548   PMID:9153201   PMID:9182527   PMID:9535861   PMID:9990509   PMID:10329681   PMID:10514377   PMID:10531035   PMID:10562557  
PMID:10722742   PMID:10848595   PMID:10888670   PMID:10918611   PMID:11513855   PMID:11574546   PMID:11641273   PMID:11676916   PMID:11713287   PMID:11714696   PMID:11724934   PMID:11739784  
PMID:11782429   PMID:11807090   PMID:11823428   PMID:11907583   PMID:11912157   PMID:12036302   PMID:12140560   PMID:12150907   PMID:12431996   PMID:12477932   PMID:12525502   PMID:12629039  
PMID:12670957   PMID:12878161   PMID:12956947   PMID:14517261   PMID:14562029   PMID:14593114   PMID:14612456   PMID:14661060   PMID:14667819   PMID:14671314   PMID:14690596   PMID:14702039  
PMID:14769800   PMID:14990566   PMID:15001359   PMID:15062086   PMID:15069192   PMID:15103385   PMID:15117950   PMID:15123669   PMID:15231748   PMID:15247280   PMID:15256223   PMID:15280377  
PMID:15447663   PMID:15489334   PMID:15522302   PMID:15581609   PMID:15684077   PMID:15911628   PMID:15936278   PMID:15950904   PMID:16112646   PMID:16174773   PMID:16213503   PMID:16275660  
PMID:16297862   PMID:16337426   PMID:16338390   PMID:16365295   PMID:16403452   PMID:16413270   PMID:16472766   PMID:16547522   PMID:16549277   PMID:16675952   PMID:16682404   PMID:16701206  
PMID:16729033   PMID:16751180   PMID:16931761   PMID:16996030   PMID:17006537   PMID:17013377   PMID:17116465   PMID:17159902   PMID:17206147   PMID:17314412   PMID:17349959   PMID:17363573  
PMID:17418098   PMID:17452440   PMID:17462600   PMID:17544371   PMID:17553932   PMID:17568776   PMID:17576800   PMID:17580310   PMID:17588522   PMID:17597759   PMID:17609381   PMID:17719635  
PMID:17848550   PMID:17893151   PMID:18006823   PMID:18206970   PMID:18213395   PMID:18312418   PMID:18313049   PMID:18344599   PMID:18359941   PMID:18451149   PMID:18508924   PMID:18519589  
PMID:18536714   PMID:18632619   PMID:18665269   PMID:18703417   PMID:18784070   PMID:18819927   PMID:18838541   PMID:18996392   PMID:19043414   PMID:19118899   PMID:19123975   PMID:19182791  
PMID:19193720   PMID:19196968   PMID:19219073   PMID:19224863   PMID:19232519   PMID:19237536   PMID:19240791   PMID:19250909   PMID:19256485   PMID:19258326   PMID:19264966   PMID:19287380  
PMID:19325566   PMID:19407830   PMID:19483087   PMID:19484123   PMID:19549727   PMID:19615732   PMID:19619542   PMID:19675099   PMID:19690564   PMID:19712108   PMID:19741096   PMID:19816404  
PMID:19818714   PMID:19826003   PMID:19913121   PMID:19953087   PMID:20051513   PMID:20059950   PMID:20061386   PMID:20064473   PMID:20122409   PMID:20152160   PMID:20347421   PMID:20383333  
PMID:20452352   PMID:20466727   PMID:20484052   PMID:20525694   PMID:20542005   PMID:20553626   PMID:20625400   PMID:20628086   PMID:20675402   PMID:20696396   PMID:20705607   PMID:20725033  
PMID:20804422   PMID:20854419   PMID:20864041   PMID:20870715   PMID:20874444   PMID:20940148   PMID:21030588   PMID:21041297   PMID:21068390   PMID:21070969   PMID:21084285   PMID:21113135  
PMID:21127351   PMID:21143188   PMID:21226479   PMID:21317885   PMID:21358815   PMID:21393245   PMID:21461837   PMID:21518764   PMID:21625211   PMID:21685362   PMID:21694720   PMID:21764995  
PMID:21828050   PMID:21860411   PMID:21873635   PMID:21965653   PMID:21987572   PMID:22065755   PMID:22069333   PMID:22084099   PMID:22086907   PMID:22124327   PMID:22157679   PMID:22158902  
PMID:22190037   PMID:22215675   PMID:22266821   PMID:22301280   PMID:22308378   PMID:22325355   PMID:22334663   PMID:22350887   PMID:22350907   PMID:22493164   PMID:22496338   PMID:22582951  
PMID:22610502   PMID:22613722   PMID:22797923   PMID:22889411   PMID:22902369   PMID:22939629   PMID:22989009   PMID:22992278   PMID:23027739   PMID:23086937   PMID:23175188   PMID:23259674  
PMID:23277564   PMID:23287719   PMID:23387299   PMID:23408431   PMID:23418353   PMID:23442799   PMID:23449389   PMID:23455478   PMID:23509263   PMID:23530056   PMID:23533145   PMID:23560854  
PMID:23603909   PMID:23607312   PMID:23612978   PMID:23652204   PMID:23677995   PMID:23695783   PMID:23727017   PMID:23871895   PMID:23936628   PMID:23973223   PMID:23973461   PMID:24113870  
PMID:24127580   PMID:24210661   PMID:24211586   PMID:24292625   PMID:24298020   PMID:24393003   PMID:24438103   PMID:24446487   PMID:24567357   PMID:24647965   PMID:24743594   PMID:24831002  
PMID:24901938   PMID:24905733   PMID:24906799   PMID:24930963   PMID:24949976   PMID:24968937   PMID:24980433   PMID:25013050   PMID:25071155   PMID:25161877   PMID:25207814   PMID:25275296  
PMID:25278022   PMID:25278611   PMID:25306923   PMID:25327252   PMID:25375667   PMID:25659039   PMID:25684577   PMID:25701873   PMID:25723849   PMID:25747658   PMID:25801170   PMID:25825779  
PMID:25882839   PMID:25960396   PMID:25963833   PMID:26025930   PMID:26124138   PMID:26186194   PMID:26216987   PMID:26245901   PMID:26263374   PMID:26304770   PMID:26344096   PMID:26344197  
PMID:26393420   PMID:26451611   PMID:26475525   PMID:26475854   PMID:26488816   PMID:26489670   PMID:26502057   PMID:26575292   PMID:26656854   PMID:26711259   PMID:26752685   PMID:26789245  
PMID:26882543   PMID:26912277   PMID:26949039   PMID:27001857   PMID:27173435   PMID:27182664   PMID:27220849   PMID:27249653   PMID:27273569   PMID:27425606   PMID:27425610   PMID:27503909  
PMID:27557663   PMID:27561354   PMID:27569044   PMID:27609087   PMID:27621311   PMID:27641145   PMID:27678051   PMID:27779380   PMID:27902311   PMID:27932573   PMID:28114281   PMID:28134249  
PMID:28190767   PMID:28286521   PMID:28322253   PMID:28345603   PMID:28431247   PMID:28514442   PMID:28553961   PMID:28625874   PMID:28647409   PMID:28681414   PMID:28685749   PMID:28757353  
PMID:28763789   PMID:28791635   PMID:28846114   PMID:28972136   PMID:29020630   PMID:29057323   PMID:29073062   PMID:29079575   PMID:29117863   PMID:29191979   PMID:29269425   PMID:29291351  
PMID:29323787   PMID:29326975   PMID:29496391   PMID:29518962   PMID:29626159   PMID:29643511   PMID:30017913   PMID:30079210   PMID:30095198   PMID:30097011   PMID:30107089   PMID:30181285  
PMID:30244836   PMID:30254148   PMID:30279270   PMID:30287686   PMID:30352932   PMID:30404641   PMID:30523153   PMID:30529286   PMID:30572766   PMID:30718280   PMID:30884854   PMID:30920720  
PMID:31048496   PMID:31061093   PMID:31087003   PMID:31120930   PMID:31207024   PMID:31241013   PMID:31368599   PMID:31560077   PMID:31596601   PMID:31772275   PMID:31819032   PMID:31929179  
PMID:32049508   PMID:32265276   PMID:32296183   PMID:32350255   PMID:32416067   PMID:32416094   PMID:32645369   PMID:32723828   PMID:32756532   PMID:32814053   PMID:32913203   PMID:32916628  
PMID:32937373   PMID:32948590   PMID:33093067   PMID:33139700   PMID:33156908   PMID:33208877   PMID:33282879   PMID:33545068   PMID:33545631   PMID:33591310   PMID:33607208   PMID:33617900  
PMID:33619536   PMID:33627783   PMID:33650289   PMID:33812169   PMID:33853758   PMID:33961781   PMID:33962630   PMID:34057440   PMID:34117217   PMID:34133717   PMID:34195792   PMID:34314700  
PMID:34408321   PMID:34526721   PMID:34544279   PMID:34551297   PMID:34642328   PMID:34795264   PMID:34857952   PMID:34887419   PMID:34942047   PMID:35025136   PMID:35027744   PMID:35032548  
PMID:35048531   PMID:35048968   PMID:35065966   PMID:35114100   PMID:35167936   PMID:35205757   PMID:35210618   PMID:35246518   PMID:35331737   PMID:35343654   PMID:35459736   PMID:35542047  
PMID:35551201   PMID:35669517   PMID:35671810   PMID:35770730   PMID:35887194   PMID:35918322   PMID:35944360   PMID:35944929   PMID:35980206   PMID:36027913   PMID:36074076   PMID:36114200  
PMID:36142504   PMID:36161689   PMID:36189882   PMID:36192394   PMID:36215168   PMID:36331508   PMID:36354374   PMID:36395886   PMID:36481767   PMID:36481790   PMID:36563856   PMID:36576150  
PMID:36585710   PMID:36597993   PMID:36608670   PMID:36631489   PMID:36650277   PMID:36692217   PMID:36693379   PMID:36744302   PMID:36865087   PMID:36897111   PMID:37226882   PMID:38113892  


Genomics

Comparative Map Data
UBE2D2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh385139,526,240 - 139,628,434 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl5139,526,431 - 139,628,434 (+)EnsemblGRCh38hg38GRCh38
GRCh375138,940,924 - 139,008,019 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 365138,920,935 - 138,988,203 (+)NCBINCBI36Build 36hg18NCBI36
Build 345138,920,934 - 138,988,200NCBI
Celera5135,015,760 - 135,083,018 (+)NCBICelera
Cytogenetic Map5q31.2NCBI
HuRef5134,083,642 - 134,151,382 (+)NCBIHuRef
CHM1_15138,373,349 - 138,440,624 (+)NCBICHM1_1
T2T-CHM13v2.05140,086,420 - 140,153,498 (+)NCBIT2T-CHM13v2.0
Ube2d2a
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391835,904,612 - 35,940,225 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1835,904,611 - 35,942,547 (+)EnsemblGRCm39 Ensembl
GRCm381835,771,559 - 35,807,172 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1835,771,558 - 35,809,494 (+)EnsemblGRCm38mm10GRCm38
MGSCv371835,931,213 - 35,966,826 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361835,897,581 - 35,933,137 (+)NCBIMGSCv36mm8
Celera1836,227,229 - 36,263,010 (+)NCBICelera
Cytogenetic Map18B2NCBI
cM Map1819.24NCBI
Ube2d2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81827,638,399 - 27,680,386 (+)NCBIGRCr8
mRatBN7.21827,364,325 - 27,406,322 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1827,364,303 - 27,406,181 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1827,491,743 - 27,533,729 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01828,253,786 - 28,295,779 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01827,588,662 - 27,630,661 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01828,561,957 - 28,603,335 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1828,594,892 - 28,603,335 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01828,273,644 - 28,315,393 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41828,426,503 - 28,434,785 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1827,096,239 - 27,136,838 (+)NCBICelera
Cytogenetic Map18p11NCBI
Ube2d2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955418989,802 - 1,006,262 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955418990,124 - 1,043,544 (-)NCBIChiLan1.0ChiLan1.0
UBE2D2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v24134,821,488 - 134,889,981 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan15132,961,832 - 133,030,281 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v05134,927,150 - 134,995,298 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.15141,048,385 - 141,115,842 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl5141,048,385 - 141,115,842 (+)Ensemblpanpan1.1panPan2
UBE2D2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1234,827,994 - 34,884,047 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl234,827,888 - 34,897,412 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha231,929,861 - 31,985,986 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0235,281,731 - 35,338,066 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl235,281,967 - 35,338,066 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1232,334,131 - 32,390,460 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0233,200,956 - 33,257,076 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0233,952,551 - 34,008,349 (+)NCBIUU_Cfam_GSD_1.0
Ube2d2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024407213152,925,200 - 152,993,263 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365318,630,516 - 8,684,686 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365318,668,954 - 8,686,305 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
UBE2D2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl2141,398,065 - 141,459,817 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.12141,397,937 - 141,459,821 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.22147,425,441 - 147,445,013 (-)NCBISscrofa10.2Sscrofa10.2susScr3
UBE2D2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12342,219,650 - 42,280,931 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2342,220,683 - 42,279,298 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603435,605,912 - 35,667,810 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ube2d2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474332,338,821 - 32,425,478 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474332,338,864 - 32,426,220 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in UBE2D2
4 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3 copy number gain See cases [RCV000051193] Chr5:130860928..155321811 [GRCh38]
Chr5:130196621..154701371 [GRCh37]
Chr5:130224520..154681564 [NCBI36]
Chr5:5q23.3-33.2
pathogenic
GRCh38/hg38 5q31.2-32(chr5:138871137-145812309)x1 copy number loss See cases [RCV000052142] Chr5:138871137..145812309 [GRCh38]
Chr5:138206826..145191872 [GRCh37]
Chr5:138234725..145172065 [NCBI36]
Chr5:5q31.2-32
pathogenic
GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1 copy number loss See cases [RCV000053524] Chr5:106619588..156124387 [GRCh38]
Chr5:105955289..155551397 [GRCh37]
Chr5:105983188..155483975 [NCBI36]
Chr5:5q21.3-33.2
pathogenic
GRCh38/hg38 5q31.1-31.3(chr5:135297294-140106003)x3 copy number gain See cases [RCV000133750] Chr5:135297294..140106003 [GRCh38]
Chr5:134632984..139485588 [GRCh37]
Chr5:134660883..139465772 [NCBI36]
Chr5:5q31.1-31.3
pathogenic
GRCh38/hg38 5q31.2-31.3(chr5:137836682-140696361)x3 copy number gain See cases [RCV000134725] Chr5:137836682..140696361 [GRCh38]
Chr5:137172371..140075946 [GRCh37]
Chr5:137200270..140056130 [NCBI36]
Chr5:5q31.2-31.3
pathogenic
GRCh38/hg38 5q31.2(chr5:139103408-139683294)x3 copy number gain See cases [RCV000137000] Chr5:139103408..139683294 [GRCh38]
Chr5:138439097..139062879 [GRCh37]
Chr5:138466996..139043063 [NCBI36]
Chr5:5q31.2
uncertain significance
GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3 copy number gain See cases [RCV000138808] Chr5:129847794..153353546 [GRCh38]
Chr5:129183487..152733106 [GRCh37]
Chr5:129211386..152713299 [NCBI36]
Chr5:5q23.3-33.2
pathogenic
GRCh38/hg38 5q31.2-31.3(chr5:138942857-144605017)x3 copy number gain See cases [RCV000142806] Chr5:138942857..144605017 [GRCh38]
Chr5:138278546..143984580 [GRCh37]
Chr5:138306445..143964773 [NCBI36]
Chr5:5q31.2-31.3
uncertain significance
GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3 copy number gain not provided [RCV000487658] Chr5:94844077..178830410 [GRCh37]
Chr5:5q15-35.3
likely benign
GRCh37/hg19 5q31.2(chr5:137754277-138994590)x1 copy number loss not provided [RCV001270645] Chr5:137754277..138994590 [GRCh37]
Chr5:5q31.2
likely pathogenic
GRCh37/hg19 5q23.3-33.3(chr5:130125085-157574910)x3 copy number gain See cases [RCV000449349] Chr5:130125085..157574910 [GRCh37]
Chr5:5q23.3-33.3
pathogenic
GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3 copy number gain See cases [RCV000448245] Chr5:106716357..180687338 [GRCh37]
Chr5:5q21.3-35.3
pathogenic
GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1 copy number loss See cases [RCV000511978] Chr5:17628741..176575720 [GRCh37]
Chr5:5p15.1-q35.2
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 copy number gain See cases [RCV000512039] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) copy number gain See cases [RCV000510723] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
NC_000005.9:g.(?_86400000)_(154000000_?)del deletion Familial adenomatous polyposis 1 [RCV002231249]|Hereditary cancer-predisposing syndrome [RCV000554476] Chr5:86400000..154000000 [GRCh37]
Chr5:5q14.3-33.2
pathogenic
GRCh37/hg19 5q31.2(chr5:138390162-139160907)x3 copy number gain not provided [RCV000682599] Chr5:138390162..139160907 [GRCh37]
Chr5:5q31.2
uncertain significance
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 copy number gain not provided [RCV000744323] Chr5:25328..180693344 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 copy number gain not provided [RCV000744317] Chr5:13648..180905029 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
Single allele deletion Neurodevelopmental disorder [RCV000787436] Chr5:14685137..149511942 [GRCh37]
Chr5:5p15.2-q32
uncertain significance
GRCh37/hg19 5q31.2(chr5:137865800-139097368)x1 copy number loss not provided [RCV000846144] Chr5:137865800..139097368 [GRCh37]
Chr5:5q31.2
pathogenic
NC_000005.9:g.(?_136633338)_(140998481_?)dup duplication PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001339088] Chr5:136633338..140998481 [GRCh37]
Chr5:5q31.2-31.3
uncertain significance
GRCh37/hg19 5q23.3-33.3(chr5:130125085-157574910) copy number gain not specified [RCV002053526] Chr5:130125085..157574910 [GRCh37]
Chr5:5q23.3-33.3
pathogenic
GRCh37/hg19 5q31.2(chr5:138675227-139314012)x1 copy number loss not provided [RCV001834327] Chr5:138675227..139314012 [GRCh37]
Chr5:5q31.2
uncertain significance
NC_000005.9:g.(?_136957787)_(140078137_?)dup duplication PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV003116437] Chr5:136957787..140078137 [GRCh37]
Chr5:5q31.2-31.3
uncertain significance
NM_003339.3(UBE2D2):c.109A>G (p.Ile37Val) single nucleotide variant Inborn genetic diseases [RCV002916949] Chr5:139614606 [GRCh38]
Chr5:138994191 [GRCh37]
Chr5:5q31.2
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1904
Count of miRNA genes:761
Interacting mature miRNAs:864
Transcripts:ENST00000253815, ENST00000398733, ENST00000398734, ENST00000505007, ENST00000505548, ENST00000510470, ENST00000511691, ENST00000511725
Prediction methods:Miranda, Rnahybrid
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
WI-13988  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375139,007,859 - 139,008,008UniSTSGRCh37
Build 365138,988,043 - 138,988,192RGDNCBI36
Celera5135,082,858 - 135,083,007RGD
Cytogenetic Map5q31.2UniSTS
HuRef5134,151,222 - 134,151,371UniSTS
GeneMap99-GB4 RH Map5527.76UniSTS
Whitehead-RH Map5437.0UniSTS
bac5252T  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375138,952,988 - 138,953,199UniSTSGRCh37
Build 365138,933,172 - 138,933,383RGDNCBI36
Celera5135,027,984 - 135,028,195RGD
Cytogenetic Map5q31.2UniSTS
HuRef5134,095,857 - 134,096,068UniSTS
RH137016  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375139,006,975 - 139,007,174UniSTSGRCh37
Build 365138,987,159 - 138,987,358RGDNCBI36
Celera5135,081,974 - 135,082,173RGD
HuRef5134,150,338 - 134,150,537UniSTS
UBE2D2_1119  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375139,007,308 - 139,008,106UniSTSGRCh37
Build 365138,987,492 - 138,988,290RGDNCBI36
Celera5135,082,307 - 135,083,105RGD
HuRef5134,150,671 - 134,151,469UniSTS
D5S1932  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375139,007,048 - 139,007,155UniSTSGRCh37
Build 365138,987,232 - 138,987,339RGDNCBI36
Celera5135,082,047 - 135,082,154RGD
Cytogenetic Map5q31.2UniSTS
HuRef5134,150,411 - 134,150,518UniSTS
GeneMap99-GB4 RH Map5527.66UniSTS
NCBI RH Map5889.1UniSTS
D5S1633E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375139,007,136 - 139,007,227UniSTSGRCh37
Build 365138,987,320 - 138,987,411RGDNCBI36
Celera5135,082,135 - 135,082,226RGD
Cytogenetic Map5q31.2UniSTS
HuRef5134,150,499 - 134,150,590UniSTS
GeneMap99-GB4 RH Map5526.41UniSTS
NCBI RH Map5889.1UniSTS


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 1
Medium 2432 2875 1687 587 1920 429 4355 2116 3676 416 1447 1607 171 1204 2788 4
Low 3 114 39 37 30 35 81 54 2 9 6 4 1 2
Below cutoff 1 1 1 4 1 3 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_003339 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_181838 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017009820 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047417690 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047417691 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054353425 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC010378 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF317220 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK001311 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK001428 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY651263 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC019052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC033349 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC048426 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ186099 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471062 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L40146 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U39317 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000253815   ⟹   ENSP00000253815
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5139,599,562 - 139,626,801 (+)Ensembl
RefSeq Acc Id: ENST00000398733   ⟹   ENSP00000381717
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5139,561,339 - 139,628,434 (+)Ensembl
RefSeq Acc Id: ENST00000398734   ⟹   ENSP00000381718
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5139,561,726 - 139,627,686 (+)Ensembl
RefSeq Acc Id: ENST00000505007   ⟹   ENSP00000426523
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5139,561,167 - 139,623,444 (+)Ensembl
RefSeq Acc Id: ENST00000505548   ⟹   ENSP00000424941
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5139,562,029 - 139,627,115 (+)Ensembl
RefSeq Acc Id: ENST00000510470
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5139,561,724 - 139,614,685 (+)Ensembl
RefSeq Acc Id: ENST00000511691
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5139,600,404 - 139,623,662 (+)Ensembl
RefSeq Acc Id: ENST00000511725   ⟹   ENSP00000429613
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5139,526,431 - 139,626,855 (+)Ensembl
RefSeq Acc Id: ENST00000698321   ⟹   ENSP00000513666
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5139,562,304 - 139,628,403 (+)Ensembl
RefSeq Acc Id: ENST00000698322   ⟹   ENSP00000513667
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5139,585,418 - 139,628,403 (+)Ensembl
RefSeq Acc Id: ENST00000698323
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5139,614,258 - 139,628,214 (+)Ensembl
RefSeq Acc Id: NM_003339   ⟹   NP_003330
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385139,561,339 - 139,628,434 (+)NCBI
GRCh375138,940,751 - 139,008,019 (+)ENTREZGENE
Build 365138,920,935 - 138,988,203 (+)NCBI Archive
HuRef5134,083,642 - 134,151,382 (+)ENTREZGENE
CHM1_15138,373,349 - 138,440,624 (+)NCBI
T2T-CHM13v2.05140,086,420 - 140,153,498 (+)NCBI
Sequence:
RefSeq Acc Id: NM_181838   ⟹   NP_862821
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385139,561,339 - 139,628,434 (+)NCBI
GRCh375138,940,751 - 139,008,019 (+)ENTREZGENE
Build 365138,920,935 - 138,988,203 (+)NCBI Archive
HuRef5134,083,642 - 134,151,382 (+)ENTREZGENE
CHM1_15138,373,349 - 138,440,624 (+)NCBI
T2T-CHM13v2.05140,086,420 - 140,153,498 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047417690   ⟹   XP_047273646
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385139,585,416 - 139,628,434 (+)NCBI
RefSeq Acc Id: XM_047417691   ⟹   XP_047273647
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385139,526,240 - 139,628,434 (+)NCBI
RefSeq Acc Id: XM_054353425   ⟹   XP_054209400
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.05140,110,481 - 140,153,498 (+)NCBI
RefSeq Acc Id: NP_003330   ⟸   NM_003339
- Peptide Label: isoform 1
- UniProtKB: Q3MN78 (UniProtKB/Swiss-Prot),   P51669 (UniProtKB/Swiss-Prot),   D3DQC9 (UniProtKB/Swiss-Prot),   Q96RP6 (UniProtKB/Swiss-Prot),   P62837 (UniProtKB/Swiss-Prot),   A0A087WY85 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_862821   ⟸   NM_181838
- Peptide Label: isoform 2
- UniProtKB: D6RFM0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000381717   ⟸   ENST00000398733
RefSeq Acc Id: ENSP00000381718   ⟸   ENST00000398734
RefSeq Acc Id: ENSP00000253815   ⟸   ENST00000253815
RefSeq Acc Id: ENSP00000424941   ⟸   ENST00000505548
RefSeq Acc Id: ENSP00000426523   ⟸   ENST00000505007
RefSeq Acc Id: ENSP00000429613   ⟸   ENST00000511725
RefSeq Acc Id: XP_047273647   ⟸   XM_047417691
- Peptide Label: isoform X2
- UniProtKB: D6RFM0 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047273646   ⟸   XM_047417690
- Peptide Label: isoform X1
- UniProtKB: A0A087WY85 (UniProtKB/TrEMBL)
RefSeq Acc Id: ENSP00000513666   ⟸   ENST00000698321
RefSeq Acc Id: ENSP00000513667   ⟸   ENST00000698322
RefSeq Acc Id: XP_054209400   ⟸   XM_054353425
- Peptide Label: isoform X1
- UniProtKB: A0A087WY85 (UniProtKB/TrEMBL)
Protein Domains
UBC core

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P62837-F1-model_v2 AlphaFold P62837 1-147 view protein structure

Promoters
RGD ID:6803628
Promoter ID:HG_KWN:51244
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_003339,   NM_181838
Position:
Human AssemblyChrPosition (strand)Source
Build 365138,920,756 - 138,921,256 (+)MPROMDB
RGD ID:6870766
Promoter ID:EPDNEW_H8548
Type:initiation region
Name:UBE2D2_2
Description:ubiquitin conjugating enzyme E2 D2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H8549  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh385139,526,240 - 139,526,300EPDNEW
RGD ID:6870768
Promoter ID:EPDNEW_H8549
Type:initiation region
Name:UBE2D2_1
Description:ubiquitin conjugating enzyme E2 D2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H8548  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh385139,561,382 - 139,561,442EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:12475 AgrOrtholog
COSMIC UBE2D2 COSMIC
Ensembl Genes ENSG00000131508 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000398733 ENTREZGENE
  ENST00000398733.8 UniProtKB/Swiss-Prot
  ENST00000398734.8 UniProtKB/Swiss-Prot
  ENST00000505007.5 UniProtKB/TrEMBL
  ENST00000505548.5 UniProtKB/Swiss-Prot
  ENST00000511725 ENTREZGENE
  ENST00000511725.5 UniProtKB/Swiss-Prot
  ENST00000698321 ENTREZGENE
  ENST00000698321.1 UniProtKB/Swiss-Prot
  ENST00000698322.1 UniProtKB/Swiss-Prot
Gene3D-CATH 3.10.110.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000131508 GTEx
HGNC ID HGNC:12475 ENTREZGENE
Human Proteome Map UBE2D2 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:7322 UniProtKB/Swiss-Prot
NCBI Gene 7322 ENTREZGENE
OMIM 602962 OMIM
PANTHER UBIQUITIN-CONJUGATING ENZYME E2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  UBIQUITIN-CONJUGATING ENZYME E2 D2 UniProtKB/Swiss-Prot
  UBIQUITIN-CONJUGATING ENZYME FAMILY PROTEIN UniProtKB/TrEMBL
Pfam UQ_con UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA37125 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 A0A087WY85 ENTREZGENE
  D3DQC9 ENTREZGENE
  D6RFM0 ENTREZGENE, UniProtKB/TrEMBL
  P51669 ENTREZGENE
  P62837 ENTREZGENE
  Q3MN78 ENTREZGENE
  Q96RP6 ENTREZGENE
  UB2D2_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary D3DQC9 UniProtKB/Swiss-Prot
  P51669 UniProtKB/Swiss-Prot
  Q3MN78 UniProtKB/Swiss-Prot
  Q96RP6 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-03-21 UBE2D2  ubiquitin conjugating enzyme E2 D2  UBE2D2  ubiquitin conjugating enzyme E2D 2  Symbol and/or name change 5135510 APPROVED
2015-11-24 UBE2D2  ubiquitin conjugating enzyme E2D 2  UBE2D2  ubiquitin-conjugating enzyme E2D 2  Symbol and/or name change 5135510 APPROVED
2011-07-27 UBE2D2  ubiquitin-conjugating enzyme E2D 2  UBE2D2  ubiquitin-conjugating enzyme E2D 2 (UBC4/5 homolog, yeast)  Symbol and/or name change 5135510 APPROVED