UBA2 (ubiquitin like modifier activating enzyme 2) - Rat Genome Database

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Gene: UBA2 (ubiquitin like modifier activating enzyme 2) Homo sapiens
Analyze
Symbol: UBA2
Name: ubiquitin like modifier activating enzyme 2
RGD ID: 1602133
HGNC Page HGNC
Description: Enables several functions, including ATP binding activity; enzyme binding activity; and magnesium ion binding activity. Contributes to SUMO activating enzyme activity. Involved in positive regulation of protein sumoylation and protein sumoylation. Located in nucleoplasm. Part of SUMO activating enzyme complex.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: anthracycline-associated resistance ARX; ARX; FLJ13058; HRIHFB2115; SAE2; SUMO-1 activating enzyme subunit 2; SUMO-activating enzyme subunit 2; SUMO1 activating enzyme subunit 2; UBA2, ubiquitin-activating enzyme E1 homolog; ubiquitin-like 1-activating enzyme E1B; ubiquitin-like modifier activating enzyme 2; ubiquitin-like modifier-activating enzyme 2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: AC093155.1   AC093155.2  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1934,428,352 - 34,471,251 (+)EnsemblGRCh38hg38GRCh38
GRCh381934,428,176 - 34,471,251 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371934,919,286 - 34,962,156 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361939,611,108 - 39,652,638 (+)NCBINCBI36hg18NCBI36
Celera1931,631,712 - 31,673,210 (+)NCBI
Cytogenetic Map19q13.11NCBI
HuRef1931,425,936 - 31,467,712 (+)NCBIHuRef
CHM1_11934,921,110 - 34,962,609 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cytoplasm  (IBA,IEA)
nucleoplasm  (IDA,TAS)
nucleus  (IEA)
SUMO activating enzyme complex  (IBA,IDA)

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Ectrodactyly  (IAGP)
Split hand  (IAGP)
References

References - curated
1. Pipeline to import KEGG annotations from KEGG into RGD
2. RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:9853615   PMID:9920803   PMID:10187858   PMID:10217437   PMID:11230166   PMID:11451954   PMID:11481243   PMID:12477932   PMID:12641448   PMID:12924945   PMID:12941704   PMID:14673145  
PMID:14702039   PMID:15302935   PMID:15489334   PMID:15546615   PMID:15660128   PMID:15983381   PMID:16169070   PMID:16189514   PMID:16455490   PMID:16620772   PMID:16679534   PMID:17353931  
PMID:17643372   PMID:18680593   PMID:18691969   PMID:19250909   PMID:19307308   PMID:20164921   PMID:21209321   PMID:21518904   PMID:21873635   PMID:21968017   PMID:22157079   PMID:22403398  
PMID:22863883   PMID:22884621   PMID:22939629   PMID:23095757   PMID:23824909   PMID:24318982   PMID:24797263   PMID:25027693   PMID:25391492   PMID:25416956   PMID:25921289   PMID:26261240  
PMID:26264872   PMID:26296656   PMID:26344197   PMID:26496610   PMID:26638075   PMID:27377895   PMID:28110515   PMID:28137758   PMID:28165030   PMID:28267209   PMID:28292943   PMID:28366632  
PMID:28514442   PMID:28675297   PMID:29117863   PMID:29128334   PMID:29231810   PMID:29511261   PMID:29744931   PMID:29955894   PMID:30033366   PMID:30097533   PMID:30179602   PMID:30387828  
PMID:30463901   PMID:30479464   PMID:30848500   PMID:31067491   PMID:31091453   PMID:31332306   PMID:31515488   PMID:31575873   PMID:31586073   PMID:31722399   PMID:31950832   PMID:32296183  
PMID:32416067   PMID:32529326   PMID:32545337   PMID:32786267   PMID:32938830   PMID:33008487   PMID:33961781   PMID:33979648   PMID:34040189   PMID:34079125   PMID:34159400   PMID:34709727  


Genomics

Comparative Map Data
UBA2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1934,428,352 - 34,471,251 (+)EnsemblGRCh38hg38GRCh38
GRCh381934,428,176 - 34,471,251 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371934,919,286 - 34,962,156 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361939,611,108 - 39,652,638 (+)NCBINCBI36hg18NCBI36
Celera1931,631,712 - 31,673,210 (+)NCBI
Cytogenetic Map19q13.11NCBI
HuRef1931,425,936 - 31,467,712 (+)NCBIHuRef
CHM1_11934,921,110 - 34,962,609 (+)NCBICHM1_1
Uba2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39733,840,122 - 33,868,014 (-)NCBIGRCm39mm39
GRCm39 Ensembl733,840,113 - 33,869,024 (-)Ensembl
GRCm38734,140,697 - 34,168,590 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl734,140,688 - 34,169,599 (-)EnsemblGRCm38mm10GRCm38
MGSCv37734,925,716 - 34,953,548 (-)NCBIGRCm37mm9NCBIm37
MGSCv36733,849,457 - 33,877,289 (-)NCBImm8
Celera729,288,889 - 29,318,520 (-)NCBICelera
Cytogenetic Map7B1NCBI
Uba2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2186,775,239 - 86,802,685 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl186,775,244 - 86,802,682 (-)Ensembl
Rnor_6.0190,010,681 - 90,035,522 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl190,011,306 - 90,035,522 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0191,155,238 - 91,179,052 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4186,605,412 - 86,633,144 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1186,683,519 - 86,734,930 (-)NCBI
Celera181,141,600 - 81,168,977 (-)NCBICelera
Cytogenetic Map1q21NCBI
Uba2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554684,034,854 - 4,072,106 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554684,034,776 - 4,072,766 (+)NCBIChiLan1.0ChiLan1.0
UBA2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11940,110,042 - 40,149,742 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1940,110,049 - 40,149,742 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01931,382,856 - 31,424,252 (+)NCBIMhudiblu_PPA_v0panPan3
UBA2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11117,841,097 - 117,883,650 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1117,843,510 - 117,883,633 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1117,240,099 - 117,282,707 (-)NCBI
ROS_Cfam_1.01118,438,073 - 118,480,562 (-)NCBI
ROS_Cfam_1.0 Ensembl1118,438,076 - 118,480,571 (-)Ensembl
UMICH_Zoey_3.11117,998,900 - 118,041,719 (-)NCBI
UNSW_CanFamBas_1.01117,625,560 - 117,668,012 (-)NCBI
UU_Cfam_GSD_1.01118,683,359 - 118,726,244 (-)NCBI
Uba2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934910,090,564 - 10,143,177 (+)NCBI
SpeTri2.0NW_0049365701,502,701 - 1,548,967 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
UBA2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1644,103,150 - 44,141,396 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2639,547,941 - 39,569,220 (+)NCBISscrofa10.2Sscrofa10.2susScr3
UBA2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1629,480,536 - 29,522,617 (+)NCBIChlSab1.1chlSab2
ChlSab1.1629,480,536 - 29,522,617 (+)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl629,480,776 - 29,521,947 (+)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_0236660737,250,825 - 7,292,828 (+)NCBIVero_WHO_p1.0
Uba2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247948,755,798 - 8,787,678 (-)NCBIHetGla_female_1.0hetGla2

Position Markers
UBA2__5175  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371934,960,113 - 34,960,847UniSTSGRCh37
Build 361939,651,953 - 39,652,687RGDNCBI36
Celera1931,672,525 - 31,673,259RGD
HuRef1931,467,027 - 31,467,761UniSTS
Bdy27d05  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map19q12UniSTS
A002Q31  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map19q12UniSTS
GeneMap99-GB4 RH Map19206.63UniSTS
NCBI RH Map19357.2UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR330hsa-miR-330-5pMirtarbaseexternal_infoCLASHFunctional MTI (Weak)23622248

Predicted Target Of
Summary Value
Count of predictions:1298
Count of miRNA genes:715
Interacting mature miRNAs:799
Transcripts:ENST00000246548, ENST00000439527, ENST00000586313, ENST00000588585, ENST00000590048, ENST00000591016, ENST00000592672, ENST00000592791, ENST00000592841, ENST00000607361
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.


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 2
Medium 2436 2291 1598 500 1391 341 4357 2075 3594 397 1458 1612 175 1 1204 2788 6 2
Low 3 699 128 124 559 124 122 140 22 1
Below cutoff 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_005499 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005258404 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006722962 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011526304 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017026134 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024451305 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001753571 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_935712 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB015337 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB208872 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC008747 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF079566 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF090384 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF110957 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK023120 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK024114 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK124730 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299514 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315521 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL136905 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC003153 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG503066 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG678201 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM556031 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT009781 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR456756 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U35832 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000246548   ⟹   ENSP00000246548
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1934,428,381 - 34,471,251 (+)Ensembl
RefSeq Acc Id: ENST00000439527   ⟹   ENSP00000437484
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1934,428,876 - 34,469,890 (+)Ensembl
RefSeq Acc Id: ENST00000586313   ⟹   ENSP00000468538
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1934,428,359 - 34,464,131 (+)Ensembl
RefSeq Acc Id: ENST00000588585
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1934,467,025 - 34,469,116 (+)Ensembl
RefSeq Acc Id: ENST00000590048   ⟹   ENSP00000467433
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1934,428,373 - 34,450,364 (+)Ensembl
RefSeq Acc Id: ENST00000591016   ⟹   ENSP00000468756
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1934,450,284 - 34,464,119 (+)Ensembl
RefSeq Acc Id: ENST00000592672
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1934,433,260 - 34,438,743 (+)Ensembl
RefSeq Acc Id: ENST00000592791   ⟹   ENSP00000475656
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1934,458,714 - 34,469,398 (+)Ensembl
RefSeq Acc Id: ENST00000592841
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1934,428,484 - 34,432,033 (+)Ensembl
RefSeq Acc Id: ENST00000607361   ⟹   ENSP00000475565
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1934,428,352 - 34,438,764 (+)Ensembl
RefSeq Acc Id: NM_005499   ⟹   NP_005490
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381934,428,381 - 34,471,251 (+)NCBI
GRCh371934,919,264 - 34,960,798 (+)NCBI
Build 361939,611,108 - 39,652,638 (+)NCBI Archive
HuRef1931,425,936 - 31,467,712 (+)ENTREZGENE
CHM1_11934,921,110 - 34,962,609 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005258404   ⟹   XP_005258461
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381934,428,176 - 34,469,891 (+)NCBI
GRCh371934,919,264 - 34,960,798 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006722962   ⟹   XP_006723025
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381934,428,388 - 34,469,891 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011526304   ⟹   XP_011524606
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381934,428,176 - 34,469,891 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017026134   ⟹   XP_016881623
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381934,428,176 - 34,467,306 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024451305   ⟹   XP_024307073
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381934,428,359 - 34,469,891 (+)NCBI
Sequence:
RefSeq Acc Id: XR_001753571
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381934,428,359 - 34,469,891 (+)NCBI
Sequence:
RefSeq Acc Id: XR_935712
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381934,428,176 - 34,469,891 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_005490   ⟸   NM_005499
- UniProtKB: Q9UBT2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005258461   ⟸   XM_005258404
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_006723025   ⟸   XM_006722962
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011524606   ⟸   XM_011526304
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016881623   ⟸   XM_017026134
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_024307073   ⟸   XM_024451305
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: ENSP00000437484   ⟸   ENST00000439527
RefSeq Acc Id: ENSP00000468538   ⟸   ENST00000586313
RefSeq Acc Id: ENSP00000246548   ⟸   ENST00000246548
RefSeq Acc Id: ENSP00000467433   ⟸   ENST00000590048
RefSeq Acc Id: ENSP00000468756   ⟸   ENST00000591016
RefSeq Acc Id: ENSP00000475656   ⟸   ENST00000592791
RefSeq Acc Id: ENSP00000475565   ⟸   ENST00000607361
Protein Domains
ThiF   UAE_UbL   UBA2_C   UBA_e1_thiolCys

Promoters
RGD ID:7239441
Promoter ID:EPDNEW_H25466
Type:initiation region
Name:UBA2_1
Description:ubiquitin like modifier activating enzyme 2
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
GRCh381934,428,392 - 34,428,452EPDNEW
RGD ID:6796155
Promoter ID:HG_KWN:29570
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_005499,   UC002NVL.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361939,610,976 - 39,611,757 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3 copy number gain See cases [RCV000050635] Chr19:17176767..34924150 [GRCh38]
Chr19:17287576..35415054 [GRCh37]
Chr19:17148576..40106894 [NCBI36]
Chr19:19p13.11-q13.11
pathogenic
GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3 copy number gain See cases [RCV000133888] Chr19:11227942..44626354 [GRCh38]
Chr19:11338618..45129651 [GRCh37]
Chr19:11199618..49821491 [NCBI36]
Chr19:19p13.2-q13.31
pathogenic
GRCh38/hg38 19q12-13.13(chr19:29661858-38114723)x1 copy number loss See cases [RCV000135879] Chr19:29661858..38114723 [GRCh38]
Chr19:30152765..38605363 [GRCh37]
Chr19:34844605..43297203 [NCBI36]
Chr19:19q12-13.13
pathogenic
GRCh38/hg38 19q12-13.13(chr19:29671324-37902990)x1 copy number loss See cases [RCV000136794] Chr19:29671324..37902990 [GRCh38]
Chr19:30162231..38393630 [GRCh37]
Chr19:34854071..43085470 [NCBI36]
Chr19:19q12-13.13
pathogenic
GRCh38/hg38 19q12-13.12(chr19:31367353-35417098)x1 copy number loss See cases [RCV000141865] Chr19:31367353..35417098 [GRCh38]
Chr19:31858259..35908000 [GRCh37]
Chr19:36550099..40599840 [NCBI36]
Chr19:19q12-13.12
pathogenic
GRCh38/hg38 19q11-13.11(chr19:27780238-34783942)x3 copy number gain See cases [RCV000143705] Chr19:27780238..34783942 [GRCh38]
Chr19:28271146..35274846 [GRCh37]
Chr19:32962986..39966686 [NCBI36]
Chr19:19q11-13.11
uncertain significance
NM_005499.3(UBA2):c.52_58dup (p.Val20fs) microsatellite not provided [RCV000627550] Chr19:34428476..34428477 [GRCh38]
Chr19:34919381..34919382 [GRCh37]
Chr19:19q13.11
pathogenic|uncertain significance
GRCh37/hg19 19q12-13.12(chr19:30735448-36120396)x3 copy number gain See cases [RCV000448231] Chr19:30735448..36120396 [GRCh37]
Chr19:19q12-13.12
pathogenic
NM_005499.3(UBA2):c.1376dup (p.Thr460fs) duplication not provided [RCV000627418] Chr19:34458898..34458899 [GRCh38]
Chr19:34949803..34949804 [GRCh37]
Chr19:19q13.11
pathogenic|likely pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
NM_005499.3(UBA2):c.816_817del (p.Trp273fs) deletion Inborn genetic diseases [RCV000624788] Chr19:34450308..34450309 [GRCh38]
Chr19:34941213..34941214 [GRCh37]
Chr19:19q13.11
likely pathogenic|uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic|uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
NM_005499.3(UBA2):c.364C>T (p.Arg122Ter) single nucleotide variant not provided [RCV000811068] Chr19:34434873 [GRCh38]
Chr19:34925778 [GRCh37]
Chr19:19q13.11
uncertain significance
GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3 copy number gain not provided [RCV000845733] Chr19:28271106..49213832 [GRCh37]
Chr19:19q11-13.33
pathogenic
NM_005499.3(UBA2):c.872-14A>T single nucleotide variant not provided [RCV001648724] Chr19:34451967 [GRCh38]
Chr19:34942872 [GRCh37]
Chr19:19q13.11
benign
NM_005499.3(UBA2):c.1A>G (p.Met1Val) single nucleotide variant Inborn genetic diseases [RCV001266032] Chr19:34428433 [GRCh38]
Chr19:34919338 [GRCh37]
Chr19:19q13.11
likely pathogenic
NM_005499.3(UBA2):c.167A>C (p.Asn56Thr) single nucleotide variant not provided [RCV001258330] Chr19:34430604 [GRCh38]
Chr19:34921509 [GRCh37]
Chr19:19q13.11
likely pathogenic
NM_005499.3(UBA2):c.800T>A (p.Leu267Ter) single nucleotide variant Chromosome 19q13.11 deletion syndrome, distal [RCV001255700] Chr19:34450293 [GRCh38]
Chr19:34941198 [GRCh37]
Chr19:19q13.11
pathogenic
NM_005499.3(UBA2):c.364C>G (p.Arg122Gly) single nucleotide variant Split hand [RCV001257459] Chr19:34434873 [GRCh38]
Chr19:34925778 [GRCh37]
Chr19:19q13.11
uncertain significance
NM_005499.3(UBA2):c.71G>T (p.Gly24Val) single nucleotide variant not provided [RCV001258328] Chr19:34428503 [GRCh38]
Chr19:34919408 [GRCh37]
Chr19:19q13.11
likely pathogenic
NM_005499.3(UBA2):c.1186G>C (p.Gly396Arg) single nucleotide variant not provided [RCV001258329] Chr19:34454497 [GRCh38]
Chr19:34945402 [GRCh37]
Chr19:19q13.11
uncertain significance
NM_005499.3(UBA2):c.1447G>A (p.Glu483Lys) single nucleotide variant not provided [RCV001258331] Chr19:34460515 [GRCh38]
Chr19:34951420 [GRCh37]
Chr19:19q13.11
likely pathogenic
NM_005499.3(UBA2):c.223-1G>A single nucleotide variant not provided [RCV001772585] Chr19:34431860 [GRCh38]
Chr19:34922765 [GRCh37]
Chr19:19q13.11
uncertain significance
GRCh37/hg19 19p13.11-q13.2(chr19:19546923-41313229)x3 copy number gain Specific learning disability [RCV001801194] Chr19:19546923..41313229 [GRCh37]
Chr19:19p13.11-q13.2
pathogenic
NM_005499.3(UBA2):c.464T>A (p.Val155Glu) single nucleotide variant not provided [RCV001758121] Chr19:34438649 [GRCh38]
Chr19:34929554 [GRCh37]
Chr19:19q13.11
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:30661 AgrOrtholog
COSMIC UBA2 COSMIC
Ensembl Genes ENSG00000126261 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000246548 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000437484 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000467433 UniProtKB/TrEMBL
  ENSP00000468538 UniProtKB/TrEMBL
  ENSP00000468756 UniProtKB/TrEMBL
  ENSP00000475565 UniProtKB/TrEMBL
  ENSP00000475656 UniProtKB/TrEMBL
Ensembl Transcript ENST00000246548 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000439527 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000586313 UniProtKB/TrEMBL
  ENST00000590048 UniProtKB/TrEMBL
  ENST00000591016 UniProtKB/TrEMBL
  ENST00000592791 UniProtKB/TrEMBL
  ENST00000607361 UniProtKB/TrEMBL
Gene3D-CATH 1.10.10.520 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.50.50.80 UniProtKB/Swiss-Prot
GTEx ENSG00000126261 GTEx
HGNC ID HGNC:30661 ENTREZGENE
Human Proteome Map UBA2 Human Proteome Map
InterPro ThiF_NAD_FAD-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  UAE_UbL_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ub-E1_IAD_1 UniProtKB/Swiss-Prot
  Ub_act_enz_dom_a_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Uba2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  UBA2_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  UBA_E1_Cys UniProtKB/TrEMBL
  Ubiquitin-activating_enz UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  UBQ-activ_enz_E1_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  UBQ-activ_enz_E1_Cys_AS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:10054 UniProtKB/Swiss-Prot
NCBI Gene 10054 ENTREZGENE
OMIM 613295 OMIM
PANTHER PTHR10953:SF5 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam ThiF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  UAE_UbL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  UBA2_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  UBA_e1_thiolCys UniProtKB/TrEMBL
PharmGKB PA162407583 PharmGKB
PIRSF SUMO_E1B UniProtKB/Swiss-Prot
PROSITE UBIQUITIN_ACTIVAT_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  UBIQUITIN_ACTIVAT_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF69572 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt K7EPL2_HUMAN UniProtKB/TrEMBL
  K7ES38_HUMAN UniProtKB/TrEMBL
  K7ESK7_HUMAN UniProtKB/TrEMBL
  Q9UBT2 ENTREZGENE, UniProtKB/Swiss-Prot
  U3KQ55_HUMAN UniProtKB/TrEMBL
  U3KQ93_HUMAN UniProtKB/TrEMBL
UniProt Secondary B3KWB9 UniProtKB/Swiss-Prot
  O95605 UniProtKB/Swiss-Prot
  Q59H87 UniProtKB/Swiss-Prot
  Q6IBP6 UniProtKB/Swiss-Prot
  Q9NTJ1 UniProtKB/Swiss-Prot
  Q9UED2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-02 UBA2  ubiquitin like modifier activating enzyme 2    ubiquitin-like modifier activating enzyme 2  Symbol and/or name change 5135510 APPROVED