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UBA2 Gene

protein-coding   GIFtS: 68
GCID: GC19P034919

Ubiquitin-Like Modifier Activating Enzyme 2

(Previous name: SUMO1 activating enzyme subunit 2)
(Previous symbol: SAE2)
  See UBA2-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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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
Ubiquitin-Like Modifier-Activating Enzyme 22 3     UBLE1B3
UBA21     EC 6.3.28
Ubiquitin-Activating Enzyme E1 Homolog (Yeast)1     

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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000019.9  NT_011109.17  NC_018930.2  
Regulatory elements:
   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 Chromatin IP Primers for UBA2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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
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: 

  • Sumoylated with SUMO1 and SUMO2/3 and by UBC9. Sumoylation at Lys-236 inhibits enzymatic activity. Sumoylation at
    the C-terminal lysine cluster plays an essential role in nuclear trafficking1
  • Ubiquitination2 at Lys65, Lys77, Lys245, Lys253, Lys257, Lys271, Lys316, Lys324, Lys336, Lys420,
                                 Lys472
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for UBA2 (Q9UBT2) (see all 13)
     NLNRQFLF  LNVHKVTV  GCELLKNL  PIHCIVWAK 


    See UBA2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_005490.1  
    ENSEMBL proteins: 
     ENSP00000475565   ENSP00000468538   ENSP00000246548   ENSP00000467433   ENSP00000437484  
     ENSP00000468756   ENSP00000475656  
    Reactome Protein details: Q9UBT2

    UBA2 Human Recombinant Protein Products:

    EMD Millipore Purified and/or Recombinant UBA2 Protein
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    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for UBA2
    OriGene Protein Over-expression Lysate for UBA2
    OriGene MassSpec for UBA2
    OriGene Custom Protein Services for UBA2
    GenScript Custom Purified and Recombinant Proteins Services for UBA2
    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

     
    Search eBioscience for Proteins for UBA2 

    UBA2 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Cell Signaling Technology (CST) Antibodies for UBA2  (SAE2)
    OriGene Antibodies for UBA2
    OriGene Custom Antibody Services for UBA2
    Novus Biologicals UBA2 Antibodies
    Abcam antibodies for UBA2
    Cloud-Clone Corp. Antibodies for UBA2
    ThermoFisher Antibodies for UBA2
    LSBio Antibodies in human, mouse, rat for UBA2

    UBA2 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for UBA2
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for UBA2
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for UBA2
    Cloud-Clone Corp. CLIAs for UBA2
    Search eBioscience for ELISAs for UBA2 


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

    Selected InterPro protein domains (see all 8):
     IPR018074 UBQ-activ_enz_E1_AS
     IPR009036 Molybdenum_cofac_synth_MoeB
     IPR000594 ThiF_NAD_FAD-bd
     IPR028077 UAE_UbL_dom
     IPR000127 UBact_repeat

    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


    Find genes that share domains with UBA2           About GenesLikeMe


    (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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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): Selected molecular function terms (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--
         
    Find genes that share ontologies with UBA2           About GenesLikeMe


    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/body  mortality/aging  skeleton 

    Find genes that share phenotypes with UBA2           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for UBA2
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for UBA2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for UBA2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for UBA2

    miRNA
    Products:
        
    miRTarBase miRNAs that target UBA2:
    hsa-mir-93-3p (MIRT038749), hsa-mir-330-5p (MIRT038231), hsa-mir-99a-5p (MIRT048652), hsa-mir-26a-5p (MIRT050074), hsa-mir-34a-5p (MIRT047397), hsa-mir-155-5p (MIRT020821), hsa-mir-941 (MIRT036571), hsa-mir-100-5p (MIRT048403), hsa-mir-484 (MIRT042245), hsa-mir-181a-5p (MIRT047313)

    Block miRNA regulation of human, mouse, rat UBA2 using miScript Target Protectors
    Selected qRT-PCR 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
    Products:
        
    OriGene RNAi products in human, mouse, rat for UBA2
    Predesigned siRNA for gene silencing in human, mouse, rat UBA2

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for UBA2

    Clone
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    OriGene clones in human, mouse for UBA2 (see all 7)
    OriGene ORF clones in mouse, rat for UBA2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: UBA2 (NM_005499)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for UBA2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat UBA2

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for UBA2
    Browse ESI BIO Cell Lines and PureStem Progenitors for UBA2 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UBA2


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    SAE2_HUMAN, Q9UBT2: Cytoplasm. Nucleus. Note=Shuttles between the cytoplasm and the nucleus, sumoylation is
    required either for nuclear translocation or nuclear retention
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    plasma membrane2
    cytosol1
    peroxisome1

    Gene Ontology (GO): 2 cellular component terms:    About this table

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

    Find genes that share ontologies with UBA2           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for UBA2 About   (see all 6)  
    See pathways by source

    SuperPathContained pathways About
    1Processing and Activation of SUMO
    Processing and Activation of SUMO
    Transfer of SUMO from E1 to E2 (UBE2I, UBC9)0.00
    Conjugation of SUMO to E1 (UBA2-SAE1)0.00
    SUMOylation0.00
    2Proteolysis Putative SUMO 1 pathway
    DNA damage Role of SUMO in p53 regulation0.33
    Proteolysis Putative SUMO 1 pathway0.33
    3Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
    Post-translational protein modification0.43
    Metabolism of proteins0.30
    4Class I MHC mediated antigen processing and presentation
    Ubiquitin mediated proteolysis0.35
    54-1BB Pathway
    SUMO Pathway0.30


    Find genes that share SuperPaths with UBA2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe 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

    2 Reactome Pathways for UBA2
        SUMO is transferred from E1 to E2 (UBE2I, UBC9)
    SUMO is conjugated to E1 (UBA2:SAE1)


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

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

        Pathway & Disease-focused RT2 Profiler PCR Array including UBA2: 

              Ubiquitination (Ubiquitylation) Pathway in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for UBA2

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

    Selected Interacting proteins for UBA2 (Q9UBT21, 2, 3 ENSP000002465484) via UniProtKB, MINT, STRING, and/or I2D (see all 133)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000206454Q018603, ENSP000003730164I2D: score=1 STRING: ENSP00000373016
    ENSG00000229094Q018603, ENSP000003888424I2D: score=1 STRING: ENSP00000388842
    ENSG00000230336Q018603, ENSP000004000474I2D: score=1 STRING: ENSP00000400047
    ENSG00000233911Q018603, ENSP000003928774I2D: score=1 STRING: ENSP00000392877
    ENSG00000235068Q018603, ENSP000004050414I2D: score=1 STRING: ENSP00000405041
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006464cellular protein modification process ----
    GO:0016925protein sumoylation TAS--
    GO:0043085positive regulation of catalytic activity TAS10187858
    GO:0043687post-translational protein modification TAS--
    GO:0044267cellular protein metabolic process TAS--

    Find genes that share ontologies with UBA2           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    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--



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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
    Products:
         
    Block miRNA regulation of human, mouse, rat UBA2 using miScript Target Protectors
    Selected qRT-PCR 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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    OriGene RNAi products in human, mouse, rat for UBA2
    Predesigned siRNA for gene silencing in human, mouse, rat UBA2
    Clone
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    OriGene clones in human, mouse for UBA2 (see all 7)
    OriGene ORF clones in mouse, rat for UBA2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: UBA2 (NM_005499)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for UBA2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat UBA2
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for UBA2
    OriGene qSTAR qPCR primer pairs in human, mouse for UBA2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat UBA2
      QuantiTect SYBR Green Assays in human, mouse, rat UBA2
      QuantiFast Probe-based Assays in human, mouse, rat UBA2

    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 

    Selected 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 

    Selected AceView cDNA sequences (see all 478):

    AW662050 BM907945 BM806947 BM847501 BU506975 AI193292 BU173065 BM830585 
    BM750823 AW768255 BE908965 AW449744 CB150552 AI263297 AU124381 BF969748 
    BM702283 BM845318 AA642435 AA634073 BM748805 BQ218790 BQ889284 CD171589 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    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


    UBA2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 8) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Pancreas (Endocrine System)
             Islets of Langerhans
    UBA2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    UBA2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.631580
        Pathway & Disease-focused RT2 Profiler PCR Array including UBA2: 
              Ubiquitination (Ubiquitylation) Pathway in human mouse rat

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    (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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for UBA2 gene from Selected 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
    ubiquitin-like modifier activating enzyme 2
    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
    56.39(n)1
    53.66(a)1
      66B73
    444961  NM_080017.31  NP_524756.21 
    worm
    (Caenorhabditis elegans)
    Secernentea uba-23 ThiF family 47(a)   I(12749657-12753353)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes UBA2(YDR390C)4
    UBA21
    Subunit of a heterodimeric nuclear SUMO activating more4
    UBA21
    47.53(n)1
    36.7(a)1
      4(1256847-1254937)4
    8519981, 4  NP_010678.31  NP_010678.14 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons SAE21 SAE2 53.14(n)
    44.21(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)
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    Paralogs for UBA2 gene
    1 SIMAP similar gene for UBA2 using alignment to 7 protein entries:     SAE2_HUMAN (see all proteins):
    UBA6

    Find genes that share paralogs with UBA2           About GenesLikeMe


    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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for UBA2 (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

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing UBA2
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 613295    OMIM disorders: --

    1 disease for UBA2:    
    About MalaCards
    adult dermatomyositis

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

    Find genes that share disorders with UBA2           About GenesLikeMe


    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)
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    PubMed articles for UBA2 gene, integrated from 10 sources (see all 56):
    (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. (J. Biol. Chem. 1999)
    2. In vitro SUMO-1 modification requires two enzymatic steps, E1 and E2. (PubMed id 9920803)1, 2, 3 Okuma T.... Yasuda H. (Biochem. Biophys. Res. Commun. 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. (FEBS Lett. 1999)
    4. Sumoylation of SAE2 C terminus regulates SAE nuclear localization. (PubMed id 23095757)1, 2 Truong K....Chen Y. (J. Biol. Chem. 2012)
    5. Small ubiquitin-like modifier (SUMO) modification of E1 Cys domain inhibits E1 Cys domain enzymatic activity. (PubMed id 22403398)1, 2 Truong K....Chen Y. (J. Biol. Chem. 2012)
    6. A general approach for investigating enzymatic pathways and substrates for ubiquitin-like modifiers. (PubMed id 16620772)1, 2 Li T....Chock P.B. (Arch. Biochem. Biophys. 2006)
    7. 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. (EMBO J. 2005)
    8. 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. (Genome Res. 2004)
    9. 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. (Genome Res. 2001)
    10. Expression and regulation of the mammalian SUMO-1 E1 enzyme. (PubMed id 11481243)1, 2 Azuma Y....Dasso M. (FASEB J. 2001)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 10054 HGNC: 30661 AceView: UBA2 Ensembl:ENSG00000126261 euGenes: HUgn10054
    ECgene: UBA2 Kegg: 10054 H-InvDB: UBA2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    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.)
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    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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