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    UBA2 ubiquitin like modifier activating enzyme 2 [ Homo sapiens (human) ]

    Gene ID: 10054, updated on 3-Apr-2024

    Summary

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    Official Symbol
    UBA2provided by HGNC
    Official Full Name
    ubiquitin like modifier activating enzyme 2provided by HGNC
    Primary source
    HGNC:HGNC:30661
    See related
    Ensembl:ENSG00000126261 MIM:613295; AllianceGenome:HGNC:30661
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ARX; SAE2; ACCES; HRIHFB2115
    Summary
    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]
    Expression
    Ubiquitous expression in testis (RPKM 52.1), fat (RPKM 42.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See UBA2 in Genome Data Viewer
    Location:
    19q13.11
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (34428381..34471251)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (36972949..37015816)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (34919286..34962156)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene programmed cell death 2 like Neighboring gene uncharacterized LOC124904695 Neighboring gene RNA, 7SL, cytoplasmic 154, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10502 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10503 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10504 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:34928566-34928723 Neighboring gene MPRA-validated peak3443 silencer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:34971736-34972390 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:34972391-34973046 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:34973047-34973701 Neighboring gene WT1 interacting protein Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:34988289-34989176 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:34989177-34990063 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10505 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:34994324-34995145 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:34996156-34996656 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:34996657-34997157 Neighboring gene ribosomal protein S26 pseudogene 55

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. UBA2 promotes the progression of renal cell carcinoma by suppressing the p53 signaling. Du X, et al. Ir J Med Sci, 2022 Aug. PMID 34467471
    2. Targeting SUMOylation dependency in human cancer stem cells through a unique SAE2 motif revealed by chemical genomics. Benoit YD, et al. Cell Chem Biol, 2021 Oct 21. PMID 33979648, Free PMC Article
    3. UBA2 activates Wnt/β-catenin signaling pathway during protection of R28 retinal precursor cells from hypoxia by extracellular vesicles derived from placental mesenchymal stem cells. Koh K, et al. Stem Cell Res Ther, 2020 Oct 2. PMID 33008487, Free PMC Article
    4. Identifying UBA2 as a proliferation and cell cycle regulator in lung cancer A549 cells. Jiang B, et al. J Cell Biochem, 2019 Aug. PMID 30848500
    5. Ubiquitin-like modifier activating enzyme 2 promotes cell migration and invasion through Wnt/β-catenin signaling in gastric cancer. Li J, et al. World J Gastroenterol, 2018 Nov 14. PMID 30479464, Free PMC Article

    See all (119) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. UBA2 promotes the progression of renal cell carcinoma by suppressing the p53 signaling.
      Title: UBA2 promotes the progression of renal cell carcinoma by suppressing the p53 signaling.
    2. Targeting SUMOylation dependency in human cancer stem cells through a unique SAE2 motif revealed by chemical genomics.
      Title: Targeting SUMOylation dependency in human cancer stem cells through a unique SAE2 motif revealed by chemical genomics.
    3. UBA2 variants underlie a recognizable syndrome with variable aplasia cutis congenita and ectrodactyly.
      Title: UBA2 variants underlie a recognizable syndrome with variable aplasia cutis congenita and ectrodactyly.
    4. Genome sequencing in families with congenital limb malformations.
      Title: Genome sequencing in families with congenital limb malformations.
    5. UBA2 activates Wnt/beta-catenin signaling pathway during protection of R28 retinal precursor cells from hypoxia by extracellular vesicles derived from placental mesenchymal stem cells.
      Title: UBA2 activates Wnt/β-catenin signaling pathway during protection of R28 retinal precursor cells from hypoxia by extracellular vesicles derived from placental mesenchymal stem cells.
    6. Increased SUMO-activating enzyme SAE1/UBA2 promotes glycolysis and pathogenic behavior of rheumatoid fibroblast-like synoviocytes.
      Title: Increased SUMO-activating enzyme SAE1/UBA2 promotes glycolysis and pathogenic behavior of rheumatoid fibroblast-like synoviocytes.
    7. Identifying UBA2 as a proliferation and cell cycle regulator in lung cancer A549 cells.
      Title: Identifying UBA2 as a proliferation and cell cycle regulator in lung cancer A549 cells.
    8. the results together with previous data such as the development of Split-hand/foot malformation (SHFM) in Lrp6 knockout mice, the presence of SHFM in two subjects with 19q13 deletions involving UBA2, and strong mouse Uba2 expression in the developing limb buds, imply that LRP6 and UBA2 represent plausible candidate genes for SHFM.
      Title: Comprehensive clinical and molecular studies in split-hand/foot malformation: identification of two plausible candidate genes (LRP6 and UBA2).
    9. The findings suggest that the UBA2-WTIP fusion is an oncogenic fusion gene, as well as a promising therapeutic target for the treatment of acute myeloid leukemia.
      Title: Identification of the UBA2-WTIP fusion gene in acute myeloid leukemia.
    10. the results suggest that Uba2 participates in the progression, invasion, and metastasis of colorectal cancer, and the possible mechanism is via regulating the Wnt signaling pathway and enhancing epithelial-mesenchymal transition behaviors of colorectal cancer cells.
      Title: Knockdown of Uba2 inhibits colorectal cancer cell invasion and migration through downregulation of the Wnt/β-catenin signaling pathway.
    Submit: New GeneRIF Correction See all GeneRIFs (22)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    ACCES syndrome
    MedGen: C5677019 OMIM: 619959 GeneReviews: Not available
    		not available

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ13058

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables SUMO activating enzyme activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    contributes_to SUMO activating enzyme activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables SUMO activating enzyme activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables SUMO activating enzyme activity TAS
    Traceable Author Statement
    more info
    		  
    enables SUMO binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables magnesium ion binding IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein heterodimerization activity IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables small protein activating enzyme binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables transferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables ubiquitin-like protein conjugating enzyme binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in positive regulation of protein sumoylation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein sumoylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein sumoylation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein sumoylation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein sumoylation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein sumoylation TAS
    Traceable Author Statement
    more info
    		  
    Component Evidence Code Pubs
    part_of SUMO activating enzyme complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of SUMO activating enzyme complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of SUMO activating enzyme complex IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    SUMO-activating enzyme subunit 2
    Names
    SUMO-1 activating enzyme subunit 2
    SUMO1 activating enzyme subunit 2
    UBA2, ubiquitin-activating enzyme E1 homolog
    anthracycline-associated resistance ARX
    ubiquitin-like 1-activating enzyme E1B
    NP_001398068.1
    NP_005490.1
    XP_006723025.1
    XP_011524606.2
    XP_024307073.1
    XP_047293975.1
    XP_047293976.1
    XP_054175457.1
    XP_054175458.1
    XP_054175459.1
    XP_054175460.1
    XP_054175461.1
    XP_054189224.1
    XP_054189225.1
    XP_054189226.1
    XP_054189227.1
    XP_054189228.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001411139.1 → NP_001398068.1  SUMO-activating enzyme subunit 2 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC008747
      Consensus CDS
      CCDS92583.1
      Related
      ENSP00000437484.1, ENST00000439527.6

    2. NM_005499.3 → NP_005490.1  SUMO-activating enzyme subunit 2 isoform 1

      See identical proteins and their annotated locations for NP_005490.1

      Status: VALIDATED

      Source sequence(s)
      AC008747, AF090384, BG503066, BG678201, BM556031, U35832
      Consensus CDS
      CCDS12439.1
      UniProtKB/Swiss-Prot
      B3KWB9, O95605, Q59H87, Q6IBP6, Q9NTJ1, Q9UBT2, Q9UED2
      UniProtKB/TrEMBL
      B2RDF5
      Related
      ENSP00000246548.3, ENST00000246548.9
      Conserved Domains (4) summary
      cd01489
      Location:19 → 444
      Uba2_SUMO; Ubiquitin activating enzyme (E1) subunit UBA2. UBA2 is part of the heterodimeric activating enzyme (E1), specific for the SUMO family of ubiquitin-like proteins (Ubls). E1 enzymes are part of a conjugation cascade to attach Ub or Ubls, covalently to ...
      pfam10585
      Location:179 → 362
      UBA_e1_thiolCys; Ubiquitin-activating enzyme active site
      pfam14732
      Location:452 → 538
      UAE_UbL; Ubiquitin/SUMO-activating enzyme ubiquitin-like domain
      pfam16195
      Location:549 → 635
      UBA2_C; SUMO-activating enzyme subunit 2 C-terminus

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      34428381..34471251
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011526304.3 → XP_011524606.2  SUMO-activating enzyme subunit 2 isoform X5

    2. XM_024451305.2 → XP_024307073.1  SUMO-activating enzyme subunit 2 isoform X2

      UniProtKB/TrEMBL
      B2RDF5
      Conserved Domains (4) summary
      cd01489
      Location:19 → 416
      Uba2_SUMO; Ubiquitin activating enzyme (E1) subunit UBA2. UBA2 is part of the heterodimeric activating enzyme (E1), specific for the SUMO family of ubiquitin-like proteins (Ubls). E1 enzymes are part of a conjugation cascade to attach Ub or Ubls, covalently to ...
      pfam10585
      Location:179 → 362
      UBA_e1_thiolCys; Ubiquitin-activating enzyme active site
      pfam14732
      Location:416 → 486
      UAE_UbL; Ubiquitin/SUMO-activating enzyme ubiquitin-like domain
      pfam16195
      Location:497 → 583
      UBA2_C; SUMO-activating enzyme subunit 2 C-terminus

    3. XM_006722962.3 → XP_006723025.1  SUMO-activating enzyme subunit 2 isoform X1

      See identical proteins and their annotated locations for XP_006723025.1

      UniProtKB/TrEMBL
      B2RDF5
      Conserved Domains (4) summary
      cd01489
      Location:19 → 416
      Uba2_SUMO; Ubiquitin activating enzyme (E1) subunit UBA2. UBA2 is part of the heterodimeric activating enzyme (E1), specific for the SUMO family of ubiquitin-like proteins (Ubls). E1 enzymes are part of a conjugation cascade to attach Ub or Ubls, covalently to ...
      pfam10585
      Location:151 → 334
      UBA_e1_thiolCys; Ubiquitin-activating enzyme active site
      pfam14732
      Location:424 → 510
      UAE_UbL; Ubiquitin/SUMO-activating enzyme ubiquitin-like domain
      pfam16195
      Location:521 → 607
      UBA2_C; SUMO-activating enzyme subunit 2 C-terminus

    4. XM_047438019.1 → XP_047293975.1  SUMO-activating enzyme subunit 2 isoform X3

    5. XM_047438020.1 → XP_047293976.1  SUMO-activating enzyme subunit 2 isoform X4

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_025791809.1 Reference GRCh38.p14 PATCHES

      Range
      93401..136271
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054333253.1 → XP_054189228.1  SUMO-activating enzyme subunit 2 isoform X10

    2. XM_054333250.1 → XP_054189225.1  SUMO-activating enzyme subunit 2 isoform X7

    3. XM_054333249.1 → XP_054189224.1  SUMO-activating enzyme subunit 2 isoform X6

    4. XM_054333251.1 → XP_054189226.1  SUMO-activating enzyme subunit 2 isoform X8

    5. XM_054333252.1 → XP_054189227.1  SUMO-activating enzyme subunit 2 isoform X9

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      36972949..37015816
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054319486.1 → XP_054175461.1  SUMO-activating enzyme subunit 2 isoform X5

    2. XM_054319483.1 → XP_054175458.1  SUMO-activating enzyme subunit 2 isoform X2

    3. XM_054319482.1 → XP_054175457.1  SUMO-activating enzyme subunit 2 isoform X1

    4. XM_054319484.1 → XP_054175459.1  SUMO-activating enzyme subunit 2 isoform X3

    5. XM_054319485.1 → XP_054175460.1  SUMO-activating enzyme subunit 2 isoform X4

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UBT2.2 GenPept UniProtKB/Swiss-Prot:Q9UBT2

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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