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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
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Genomic context

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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

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