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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

UBA2 Gene

protein-coding   GIFtS: 66
GCID: GC19P034919

Ubiquitin-Like Modifier Activating Enzyme 2

(Previous name: SUMO1 activating enzyme subunit 2)
(Previous symbol: SAE2)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Ubiquitin-Like Modifier Activating Enzyme 21 2     ARX2
SAE21 2 3 5     SUMO-1 Activating Enzyme Subunit 22
SUMO1 Activating Enzyme Subunit 21 2     SUMO-Activating Enzyme Subunit 22
Anthracycline-Associated Resistance ARX2 3     UBA2, Ubiquitin-Activating Enzyme E1 Homolog2
Ubiquitin-Like 1-Activating Enzyme E1B2 3     EC 6.3.2.-3
UBA21     UBLE1B3
Ubiquitin-Activating Enzyme E1 Homolog (Yeast)1     EC 6.3.28

External Ids:    HGNC: 306611   Entrez Gene: 100542   Ensembl: ENSG000001262617   OMIM: 6132955   UniProtKB: Q9UBT23   

Export aliases for UBA2 gene to outside databases

Previous GC identifers: GC19P035536 GC19P035368 GC19P039595 GC19P039611 GC19P031425


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for UBA2 Gene:
Posttranslational modification of proteins by the addition of the small protein SUMO (see SUMO1; MIM 601912), or
sumoylation, regulates protein structure and intracellular localization. SAE1 (MIM 613294) and UBA2 form a
heterodimer that functions as a SUMO-activating enzyme for the sumoylation of proteins (Okuma et al., 1999
(PubMed 9920803)).(supplied by OMIM, Mar 2010)

GeneCards Summary for UBA2 Gene: 
UBA2 (ubiquitin-like modifier activating enzyme 2) is a protein-coding gene. Diseases associated with UBA2 include adult dermatomyositis, and dermatomyositis, and among its related super-pathways are Proteolytic Processing of SUMO and Proteolysis Putative SUMO-1 pathway. GO annotations related to this gene include protein heterodimerization activity and ligase activity.

UniProtKB/Swiss-Prot: SAE2_HUMAN, Q9UBT2
Function: The heterodimer acts as a E1 ligase for SUMO1, SUMO2, SUMO3, and probably SUMO4. It mediates
ATP-dependent activation of SUMO proteins followed by formation of a thioester bond between a SUMO protein and a
conserved active site cysteine residue on UBA2/SAE2

Gene Wiki entry for UBA2 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NT_011109.16  NC_018930.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the UBA2 gene promoter:
         XBP-1   CUTL1   C/EBPalpha   PPAR-alpha   POU2F1   HFH-1   HOXA5   POU2F1a   NF-kappaB1   Ik-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidUBA2 promoter sequence
   Search SABiosciences Chromatin IP Primers for UBA2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat UBA2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 19q12   Ensembl cytogenetic band:  19q13.11   HGNC cytogenetic band: 19q13.11

UBA2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
UBA2 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P034919:  view genomic region     (about GC identifiers)

Start:
34,919,257 bp from pter      End:
34,960,853 bp from pter
Size:
41,597 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: SAE2_HUMAN, Q9UBT2 (See protein sequence)
Recommended Name: SUMO-activating enzyme subunit 2  
Size: 640 amino acids; 71224 Da
Subunit: Heterodimer of SAE1 and UBA2/SAE2. The heterodimer corresponds to the two domains that are encoded on a
single polypeptide chain in ubiquitin-activating enzyme E1. Interacts with UBE2I
Subcellular location: Nucleus
5 PDB 3D structures from and Proteopedia for UBA2:
1Y8Q (3D)        1Y8R (3D)        2PX9 (3D)        3KYC (3D)        3KYD (3D)    
Secondary accessions: O95605 Q59H87 Q6IBP6 Q9NTJ1 Q9UED2

Explore the universe of human proteins at neXtProt for UBA2: NX_Q9UBT2

Explore proteomics data for UBA2 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9UBT2

  • 4/13 DME Specific Peptides for UBA2 (Q9UBT2) (see all 13)
     NLNRQFLF  LNVHKVTV  GCELLKNL  PIHCIVWAK 

    UBA2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    UBA2 Protein Expression
    REFSEQ proteins: NP_005490.1  
    ENSEMBL proteins: 
     ENSP00000475565   ENSP00000468538   ENSP00000246548   ENSP00000467433   ENSP00000437484  
     ENSP00000468756   ENSP00000475656  
    Reactome Protein details: Q9UBT2
    Human Recombinant Protein Products for UBA2: 
    EMD Millipore Purified and/or Recombinant UBA2 Protein
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    Novus Biologicals UBA2 Proteins
    Novus Biologicals UBA2 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for UBA2 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005654nucleoplasm TAS--
    GO:0005737cytoplasm IEA--

    UBA2 for ontologies           About GeneDecksing



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    Cloud-Clone Corp. CLIAs for UBA2


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    UBE1: Ubiquitin-like modifier activating enzymes

    5/7 InterPro protein domains (see all 7):
     IPR018074 UBQ-activ_enz_E1_AS
     IPR000127 UBact_repeat
     IPR023280 Ub-like_act_enz_cat_cys_dom
     IPR019572 Ubiquitin-activating_enzyme
     IPR009036 Molybdenum_cofac_synth_MoeB

    Graphical View of Domain Structure for InterPro Entry Q9UBT2

    ProtoNet protein and cluster: Q9UBT2

    1 Blocks protein domain: IPB000594 UBA/THIF-type NAD/FAD binding fold

    UniProtKB/Swiss-Prot: SAE2_HUMAN, Q9UBT2
    Similarity: Belongs to the ubiquitin-activating E1 family


    UBA2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SAE2_HUMAN, Q9UBT2
    Function: The heterodimer acts as a E1 ligase for SUMO1, SUMO2, SUMO3, and probably SUMO4. It mediates
    ATP-dependent activation of SUMO proteins followed by formation of a thioester bond between a SUMO protein and a
    conserved active site cysteine residue on UBA2/SAE2

         Genatlas biochemistry entry for UBA2:
    sentrin (UBL1) avtivating protein component with AOS1(SAE1) and UBL1 required for activation of UBL1

         Enzyme Numbers (IUBMB): EC 6.3.2.-1 EC 6.3.22

         Gene Ontology (GO): 5/10 molecular function terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0005515protein binding IPI12941704
    GO:0005524ATP binding IEA--
    GO:0008047enzyme activator activity TAS10187858
    GO:0008134transcription factor binding IEA--
         
    UBA2 for ontologies           About GeneDecksing


    Phenotypes:
         5 GenomeRNAi human phenotypes for UBA2:
     Increased cell death in HCT116  Synthetic lethal with Ras  Synthetic lethal with c-Myc af  Upregulation of Wnt/beta-caten 
     Wnt reporter upregulated 

         3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Uba2):
     growth/size  mortality/aging  skeleton 

    UBA2 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for UBA2 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for UBA2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for UBA2 
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    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmidUBA2 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for UBA2 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1SUMOylation
    SUMOylation0.67
    Conjugation of SUMO to E1 (UBA2:SAE1)0.56
    Processing and Activation of SUMO0.67
    Transfer of SUMO from E1 to E2 (UBE2I, UBC9)0.33
    2DNA damage Role of SUMO in p53 regulation
    Proteolysis Putative SUMO-1 pathway0.33
    DNA damage Role of SUMO in p53 regulation0.33
    3Antigen processing: Ubiquitination & Proteasome degradation
    Ubiquitin mediated proteolysis0.36
    44-1BB Pathway
    SUMO Pathway0.30
    5Protein Stability
    Protein Stability

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 EMD Millipore Pathways for UBA2
        Proteolysis Putative SUMO-1 pathway
    DNA damage Role of SUMO in p53 regulation

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for UBA2
        SUMO Pathway

    1 Cell Signaling Technology (CST) Pathway for UBA2
        Protein Stability

    2 GeneGo (Thomson Reuters) Pathways for UBA2
        Proteolysis Putative SUMO-1 pathway
    DNA damage Role of SUMO in p53 regulation

    4        Reactome Pathways for UBA2
        Transfer of SUMO from E1 to E2 (UBE2I, UBC9)
    Conjugation of SUMO to E1 (UBA2:SAE1)
    SUMOylation
    Processing and Activation of SUMO


    1         Kegg Pathway  (Kegg details for UBA2):
        Ubiquitin mediated proteolysis

    UniProtKB/Swiss-Prot: SAE2_HUMAN, Q9UBT2
    Pathway: Protein modification; protein sumoylation


    UBA2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for UBA2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/92 Interacting proteins for UBA2 (Q9UBT21, 2, 3 ENSP000002465484) via UniProtKB, MINT, STRING, and/or I2D (see all 92)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000206454Q018603I2D: score=1 
    ENSG00000229094Q018603I2D: score=1 
    ENSG00000230336Q018603I2D: score=1 
    ENSG00000233911Q018603I2D: score=1 
    ENSG00000235068Q018603I2D: score=1 
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006464cellular protein modification process ----
    GO:0016925protein sumoylation TAS--
    GO:0043085positive regulation of catalytic activity TAS10187858

    UBA2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for UBA2 (SAE2)

    4 HMDB Compounds for UBA2    About this table
    CompoundSynonyms CAS #PubMed Ids
    Adenosine monophosphate5'-AMP (see all 28)61-19-8--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    Phosphoric acidacide phosphorique (FRENCH) (see all 20)7664-38-2--
    Pyrophosphate(4-)Diphosphoric acid ion (see all 10)14000-31-8--

    Search CenterWatch for drugs/clinical trials and news about UBA2 / SAE2

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for UBA2 gene: 
    NM_005499.2  

    Unigene Cluster for UBA2:

    Ubiquitin-like modifier activating enzyme 2
    Hs.631580  [show with all ESTs]
    Unigene Representative Sequence: AK124730
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000607361 ENST00000586313 ENST00000246548(uc010xrx.1 uc002nvk.3)
    ENST00000590048 ENST00000592841 ENST00000439527(uc002nvl.3) ENST00000592672
    ENST00000591016 ENST00000592791 ENST00000588585
    miRNA
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    8/12 QIAGEN miScript miRNA Assays for microRNAs that regulate UBA2 (see all 12):
    hsa-miR-520d-5p hsa-miR-522 hsa-miR-133b hsa-miR-1911* hsa-miR-224* hsa-miR-649 hsa-miR-133a hsa-miR-645
    SwitchGear 3'UTR luciferase reporter plasmidUBA2 3' UTR sequence
    Inhib. RNA
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    Additional mRNA sequence: 

    AB015337.1 AB208872.1 AF079566.1 AF090384.1 AF110957.1 AK023120.1 AK024114.1 AK124730.1 
    AK299514.1 AK315521.1 AL136905.1 BC003153.1 BT009781.1 CR456756.1 U35832.1 

    24/30 DOTS entries (see all 30):

    DT.417687  DT.91769032  DT.95371608  DT.100827743  DT.100647308  DT.95371580  DT.101984590  DT.100827746 
    DT.121476967  DT.100838603  DT.100827747  DT.121476497  DT.40225546  DT.91769042  DT.100827744  DT.91877659 
    DT.95184015  DT.100827735  DT.100838962  DT.121398493  DT.121476622  DT.121476680  DT.121476978  DT.86855221 

    24/478 AceView cDNA sequences (see all 478):

    U35832 AU124381 BM710638 AA553714 BQ428411 BM664958 CB150552 BP341403 
    BU173065 BM847501 BE908965 BM702283 BM750823 BG166807 AU119912 NM_005499 
    BM556031 BM845318 BG257748 CA393607 BM907945 BM698715 AI862986 BU506975 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for UBA2    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16
    SP1:                                                                                                                  
    SP2:                                                                                -                                 
    SP3:                                                                                                                  
    SP4:                                                                                                                  


    ECgene alternative splicing isoforms for UBA2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    UBA2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTGCCTTTTT
    UBA2 Expression
    About this image


    See UBA2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for UBA2

    SOURCE GeneReport for Unigene cluster: Hs.631580
        SABiosciences Expression via Pathway-Focused PCR Array including UBA2: 
              Ubiquitination (Ubiquitylation) Pathway in human mouse rat

    Primer
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat UBA2
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UBA2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for UBA2 gene from 10/26 species (see all 26)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Uba21 , 5 ubiquitin-like modifier activating enzyme 21, 5 87.72(n)1
    94.36(a)1
      7 (19.41 cM)5
    509951  NM_016682.21  NP_057891.11 
     341406895 
    chicken
    (Gallus gallus)
    Aves UBA21 ubiquitin-like modifier activating enzyme 2 83.37(n)
    89.88(a)
      415784  NM_001030571.1  NP_001025742.1 
    lizard
    (Anolis carolinensis)
    Reptilia UBA26
    Uncharacterized protein
    77(a)
    1 ↔ 1
    GL344074.1(6380-22912)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.151512 Xenopus laevis, Similar to SUMO-1 activating enzyme more 79.33(n)    BC043962.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufi17g062 Danio rerio cDNA clone MGC66354 IMAGE5604607, complete more 78.8(n)    BC055614.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Uba21 , 3 SMT3-dependent protein catabolism
    ubiquitin-like more3
    Smt3 activating enzyme 21
    49(a)3
    55.91(n)1
    53.14(a)1
      66B73
    444961  NM_080017.21  NP_524756.21 
    worm
    (Caenorhabditis elegans)
    Secernentea uba-21 , 3 ThiF family3
    UBA (human ubiquitin) related1
    47(a)3
    52.24(n)1
    46.95(a)1
      I(12749657-12753353)3
    1731451  NM_001026477.21  NP_001021648.21 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes UBA2(YDR390C)4
    UBA21
    Subunit of a heterodimeric nuclear SUMO activating more4
    Uba2p1
    47.28(n)1
    36.81(a)1
      4(1256847-1254937)4
    8519981, 4  NP_010678.31  NP_010678.14 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons SAE21 SUMO-activating enzyme subunit 2 53.08(n)
    44.04(a)
      816686  NM_001202641.1  NP_001189570.1 
    rice
    (Oryza sativa)
    Liliopsida Os.180652 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 75.22(n)    AK120683.1 


    ENSEMBL Gene Tree for UBA2 (if available)
    TreeFam Gene Tree for UBA2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for UBA2 gene
    1 SIMAP similar gene for UBA2 using alignment to 5 protein entries:     SAE2_HUMAN (see all proteins):
    UBA6

    UBA2 for paralogs           About GeneDecksing


    3 Pseudogenes.org Pseudogenes for UBA2
    PGOHUM00000244088 PGOHUM00000244782 PGOHUM00000243796


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/864 SNPs in UBA2 are shown (see all 864)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1399847971,2
    --34917630(+) GATCAA/TCCCCT 1 -- us2k10--------
    rs29652801,2
    C,F,H--34917700(-) TCTACG/ATAGGC 1 -- us2k115Minor allele frequency- A:0.13NS EA NA WA 2048
    rs1180260941,2
    F--34917844(+) AAAGCT/CTTATA 1 -- us2k11Minor allele frequency- C:0.01NA 120
    rs1855393581,2
    --34917939(+) GATAAC/TTGCTA 1 -- us2k10--------
    rs2021046921,2
    --34918001(+) TAGGG-/TTTTTT 1 -- us2k10--------
    rs1414971961,2
    --34918061(+) GCAGTA/GGTAAG 1 -- us2k10--------
    rs1167071551,2
    F--34918199(+) CTGGAG/ATGTGT 1 -- us2k11Minor allele frequency- A:0.03WA 118
    rs1902615901,2
    --34918368(+) ATTCTC/GCTGCC 1 -- us2k10--------
    rs621233931,2
    --34918471(+) GAGACA/GGAGTC 1 -- us2k10--------
    rs1861555821,2
    --34918549(+) CGATTA/CTCCTG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for UBA2 (34919257 - 34960853 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for UBA2:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2718483CNV Deletion23290073
    nsv2469CNV Insertion18451855
    nsv517392CNV Gain+Loss19592680

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 613295    OMIM disorders: --

    3 diseases for UBA2:    About MalaCards
    adult dermatomyositis    dermatomyositis    myositis

    1 disease from the University of Copenhagen DISEASES database for UBA2:
    Adult dermatomyositis

    UBA2 for disorders           About GeneDecksing


    Export disorders for UBA2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for UBA2 gene, integrated from 9 sources (see all 55):
    (articles sorted by number of sources associating them with UBA2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of the enzyme required for activation of the small ubiquitin-like protein SUMO-1. (PubMed id 10187858)1, 2, 3, 9 Desterro J.M.P.... Hay R.T. (1999)
    2. In vitro SUMO-1 modification requires two enzymatic steps, E1 and E2. (PubMed id 9920803)1, 2, 3 Okuma T.... Yasuda H. (1999)
    3. Molecular cloning and characterization of human AOS1 and UBA2, components of the sentrin-activating enzyme complex. (PubMed id 10217437)1, 2, 9 Gong L.... Yeh E.T.H. (1999)
    4. A general approach for investigating enzymatic pathways and substrates for ubiquitin-like modifiers. (PubMed id 16620772)1, 2 Li T....Chock P.B. (2006)
    5. Structures of the SUMO E1 provide mechanistic insights into SUMO activation and E2 recruitment to E1. (PubMed id 15660128)1, 2 Lois L.M. and Lima C.D. (2005)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    7. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PubMed id 11230166)1, 2 Wiemann S.... Poustka A. (2001)
    8. Expression and regulation of the mammalian SUMO-1 E1 enzyme. (PubMed id 11481243)1, 2 Azuma Y....Dasso M. (2001)
    9. Polymeric chains of SUMO-2 and SUMO-3 are conjugated to protein substrates by SAE1/SAE2 and Ubc9. (PubMed id 11451954)1, 2 Tatham M.H.... Hay R.T. (2001)
    10. Selection system for genes encoding nuclear-targeted proteins. (PubMed id 9853615)1, 2 Ueki N.... Muramatsu M.-A. (1998)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 10054 HGNC: 30661 AceView: UBA2 Ensembl:ENSG00000126261 euGenes: HUgn10054
    ECgene: UBA2 Kegg: 10054 H-InvDB: UBA2

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for UBA2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for UBA2 gene:
    Search GeneIP for patents involving UBA2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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