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Aliases for UBA2 Gene

Aliases for UBA2 Gene

  • Ubiquitin Like Modifier Activating Enzyme 2 2 3 5
  • Anthracycline-Associated Resistance ARX 3 4
  • Ubiquitin-Like 1-Activating Enzyme E1B 3 4
  • SUMO1 Activating Enzyme Subunit 2 2 3
  • SAE2 3 4
  • UBA2, Ubiquitin-Activating Enzyme E1 Homolog (Yeast) 2
  • UBA2, Ubiquitin-Activating Enzyme E1 Homolog 3
  • Ubiquitin-Like Modifier Activating Enzyme 2 2
  • Ubiquitin-Like Modifier-Activating Enzyme 2 4
  • SUMO-1 Activating Enzyme Subunit 2 3
  • SUMO-Activating Enzyme Subunit 2 3
  • HRIHFB2115 3
  • EC 6.3.2.- 4
  • EC 6.3.2 56
  • UBLE1B 4
  • ARX 3

External Ids for UBA2 Gene

Previous HGNC Symbols for UBA2 Gene

  • SAE2

Previous GeneCards Identifiers for UBA2 Gene

  • GC19P035536
  • GC19P035368
  • GC19P039595
  • GC19P039611
  • GC19P034919
  • GC19P031425

Summaries for UBA2 Gene

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 Chromosome 19Q13.11 Deletion Syndrome and Xeroderma Pigmentosum, Complementation Group C. Among its related pathways are SUMOylation and Metabolism of proteins. Gene Ontology (GO) annotations related to this gene include protein heterodimerization activity and transcription factor binding.

UniProtKB/Swiss-Prot for UBA2 Gene

  • The heterodimer acts as an 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

Additional gene information for UBA2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for UBA2 Gene

Genomics for UBA2 Gene

GeneHancer (GH) Regulatory Elements for UBA2 Gene

Promoters and enhancers for UBA2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19I034427 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 550.8 +0.7 740 2.4 SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 POLR2B ZNF766 E2F8 ZNF143 ENSG00000267024 UBA2 ZNF599 LSM14A KIAA0355 ZNF792 ZNF302 ENSG00000271032 ENSG00000271049 ZNF181
GH19I034170 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10 -255.0 -255030 5.2 FEZF1 DMAP1 IRF4 YY1 ZNF213 ZNF143 NFYC ZC3H11A SSRP1 ZNF610 LSM14A GC19M034171 ZNF599 ZNF792 KIAA0355 ZNF302 ZNF181 ENSG00000271032 WTIP ZNF30
GH19I035246 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 9.9 +820.4 820449 3.4 CLOCK MLX ZFP64 DMAP1 IRF4 YY1 SLC30A9 ZNF213 ZNF416 ZNF143 LSR RBM42 KMT2B ZNF599 TMEM147-AS1 HAUS5 ZNF792 ZNF30 ZNF302 KIAA0355
GH19I033819 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 9.9 -607.5 -607533 2.8 ZFP64 ARID4B SIN3A FEZF1 ZNF213 ZNF302 ZNF416 KLF13 SP3 ZC3H11A GPATCH1 CEP89 ZNF599 LSM14A KIAA0355 ZNF181 ENSG00000267219 WTIP FAAP24 ENSG00000271049
GH19I035322 Enhancer 1.2 ENCODE dbSUPER 9.9 +895.6 895646 2.6 HDGF PKNOX1 SMAD1 ZNF493 ZFP64 ZNF121 ZNF213 ZNF302 ATF7 KLF7 TMEM147-AS1 HAUS5 ZNF599 KMT2B PROSER3 ZNF792 RBM42 ZNF146 ZNF181 U2AF1L4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around UBA2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the UBA2 gene promoter:

Genomic Locations for UBA2 Gene

Genomic Locations for UBA2 Gene
chr19:34,428,176-34,471,251
(GRCh38/hg38)
Size:
43,076 bases
Orientation:
Plus strand
chr19:34,919,257-34,960,853
(GRCh37/hg19)

Genomic View for UBA2 Gene

Genes around UBA2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
UBA2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for UBA2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for UBA2 Gene

Proteins for UBA2 Gene

  • Protein details for UBA2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UBT2-SAE2_HUMAN
    Recommended name:
    SUMO-activating enzyme subunit 2
    Protein Accession:
    Q9UBT2
    Secondary Accessions:
    • B3KWB9
    • O95605
    • Q59H87
    • Q6IBP6
    • Q9NTJ1
    • Q9UED2

    Protein attributes for UBA2 Gene

    Size:
    640 amino acids
    Molecular mass:
    71224 Da
    Quaternary structure:
    • 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.

    Three dimensional structures from OCA and Proteopedia for UBA2 Gene

    Alternative splice isoforms for UBA2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for UBA2 Gene

Selected DME Specific Peptides for UBA2 Gene

Q9UBT2:
  • QDDVLIVDSDEE
  • PIHCIVWAK
  • GLIVLEGLKILSG
  • IESGTAGYLGQV
  • NLNRQFLF
  • LNVHKVTV
  • PGCTIRNTPSE
  • SKAQVAKESVL
  • NGSDDGAQPSTS
  • KEKFAMVAPDVQIEDGKGTILISSE
  • GCELLKNL
  • KSMAGNIIPAIATTNAVI
  • NALDNRAARN

Post-translational modifications for UBA2 Gene

  • 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 trafficking.
  • Ubiquitination at posLast=6565, posLast=7777, posLast=245245, isoforms=2253, posLast=257257, isoforms=2316, isoforms=2324, posLast=336336, posLast=420420, and isoforms=2472

Domains & Families for UBA2 Gene

Gene Families for UBA2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Graphical View of Domain Structure for InterPro Entry

Q9UBT2

UniProtKB/Swiss-Prot:

SAE2_HUMAN :
  • Belongs to the ubiquitin-activating E1 family.
Family:
  • Belongs to the ubiquitin-activating E1 family.
genes like me logo Genes that share domains with UBA2: view

Function for UBA2 Gene

Molecular function for UBA2 Gene

GENATLAS Biochemistry:
sentrin (UBL1) avtivating protein component with AOS1(SAE1) and UBL1 required for activation of UBL1
UniProtKB/Swiss-Prot Function:
The heterodimer acts as an 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.

Enzyme Numbers (IUBMB) for UBA2 Gene

Phenotypes From GWAS Catalog for UBA2 Gene

Gene Ontology (GO) - Molecular Function for UBA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000287 magnesium ion binding IMP 15660128
GO:0005515 protein binding IPI 15660128
GO:0005524 ATP binding IMP 15660128
GO:0008047 enzyme activator activity TAS 10187858
GO:0008134 transcription factor binding IEA --
genes like me logo Genes that share ontologies with UBA2: view
genes like me logo Genes that share phenotypes with UBA2: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for UBA2 Gene

Localization for UBA2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for UBA2 Gene

Cytoplasm. Nucleus. Note=Shuttles between the cytoplasm and the nucleus, sumoylation is required either for nuclear translocation or nuclear retention.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for UBA2 gene
Compartment Confidence
nucleus 5
plasma membrane 2
peroxisome 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for UBA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IDA,TAS --
GO:0005737 cytoplasm IBA --
GO:0031510 SUMO activating enzyme complex IDA 15660128
genes like me logo Genes that share ontologies with UBA2: view

Pathways & Interactions for UBA2 Gene

genes like me logo Genes that share pathways with UBA2: view

UniProtKB/Swiss-Prot Q9UBT2-SAE2_HUMAN

  • Pathway: Protein modification; protein sumoylation.

Gene Ontology (GO) - Biological Process for UBA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016925 protein sumoylation TAS,IEA --
GO:0043085 positive regulation of catalytic activity IEA --
genes like me logo Genes that share ontologies with UBA2: view

No data available for SIGNOR curated interactions for UBA2 Gene

Drugs & Compounds for UBA2 Gene

(3) Drugs for UBA2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Adenosine monophosphate Approved, Investigational Nutra 0
ATP Investigational Nutra Agonist 0

(1) Additional Compounds for UBA2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • (4-)Diphosphoric acid ion
  • (P2O74-)Diphosphate
  • Diphosphate
  • Diphosphoric acid
  • PPi
14000-31-8
genes like me logo Genes that share compounds with UBA2: view

Transcripts for UBA2 Gene

Unigene Clusters for UBA2 Gene

Ubiquitin-like modifier activating enzyme 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for UBA2 Gene

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

Relevant External Links for UBA2 Gene

GeneLoc Exon Structure for
UBA2
ECgene alternative splicing isoforms for
UBA2

Expression for UBA2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for UBA2 Gene

Protein differential expression in normal tissues from HIPED for UBA2 Gene

This gene is overexpressed in Lymph node (16.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for UBA2 Gene



Protein tissue co-expression partners for UBA2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of UBA2 Gene:

UBA2

SOURCE GeneReport for Unigene cluster for UBA2 Gene:

Hs.631580

Evidence on tissue expression from TISSUES for UBA2 Gene

  • Nervous system(4.8)
  • Skin(4.4)
  • Liver(4.3)
  • Lung(2.9)
  • Eye(2)
  • Intestine(2)
genes like me logo Genes that share expression patterns with UBA2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for UBA2 Gene

Orthologs for UBA2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for UBA2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia UBA2 33 34
  • 99.79 (n)
dog
(Canis familiaris)
Mammalia UBA2 33 34
  • 94.22 (n)
cow
(Bos Taurus)
Mammalia UBA2 33 34
  • 93.65 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia UBA2 34
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Uba2 33 16 34
  • 87.72 (n)
rat
(Rattus norvegicus)
Mammalia Uba2 33
  • 87.48 (n)
oppossum
(Monodelphis domestica)
Mammalia UBA2 34
  • 85 (a)
OneToOne
chicken
(Gallus gallus)
Aves UBA2 33 34
  • 83.37 (n)
lizard
(Anolis carolinensis)
Reptilia UBA2 34
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia uba2 33
  • 74.99 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.15151 33
zebrafish
(Danio rerio)
Actinopterygii uba2 33 34
  • 70.54 (n)
wufi17g06 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3706 33
fruit fly
(Drosophila melanogaster)
Insecta Uba2 35 33 34
  • 56.39 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008637 33
  • 55.32 (n)
worm
(Caenorhabditis elegans)
Secernentea uba-2 35 34
  • 47 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E03103g 33
  • 49.17 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR138W 33
  • 48.33 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes UBA2 33 34 36
  • 47.53 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons SAE2 33
  • 53.14 (n)
rice
(Oryza sativa)
Liliopsida Os07g0586500 33
  • 56.87 (n)
Os.18065 33
wheat
(Triticum aestivum)
Liliopsida Ta.7030 33
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes fub2 33
  • 52.96 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU03526 33
  • 51.06 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1 33
Species where no ortholog for UBA2 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for UBA2 Gene

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

Paralogs for UBA2 Gene

(1) SIMAP similar genes for UBA2 Gene using alignment to 7 proteins:

Pseudogenes.org Pseudogenes for UBA2 Gene

genes like me logo Genes that share paralogs with UBA2: view

No data available for Paralogs for UBA2 Gene

Variants for UBA2 Gene

Sequence variations from dbSNP and Humsavar for UBA2 Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
rs1000087071 -- 34,467,663(+) C/G downstream_transcript_variant, genic_downstream_transcript_variant, intron_variant
rs1000090604 -- 34,463,058(+) C/G intron_variant
rs1000094275 -- 34,428,683(+) G/T intron_variant
rs1000145096 -- 34,456,344(+) C/T intron_variant
rs1000164033 -- 34,444,732(+) A/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for UBA2 Gene

Variant ID Type Subtype PubMed ID
nsv961211 CNV duplication 23825009
nsv517392 CNV gain+loss 19592680
nsv2469 CNV insertion 18451855
nsv1059395 CNV gain 25217958
esv2718483 CNV deletion 23290073

Variation tolerance for UBA2 Gene

Residual Variation Intolerance Score: 19% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.67; 45.92% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for UBA2 Gene

Human Gene Mutation Database (HGMD)
UBA2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
UBA2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for UBA2 Gene

Disorders for UBA2 Gene

MalaCards: The human disease database

(3) MalaCards diseases for UBA2 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
chromosome 19q13.11 deletion syndrome
  • 19q13.11 microdeletion syndrome
xeroderma pigmentosum, complementation group c
  • xpc
aplasia cutis congenita
  • acc
- elite association - COSMIC cancer census association via MalaCards
Search UBA2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for UBA2

genes like me logo Genes that share disorders with UBA2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for UBA2 Gene

Publications for UBA2 Gene

  1. Identification of the enzyme required for activation of the small ubiquitin-like protein SUMO-1. (PMID: 10187858) Desterro JM … Hay RT (The Journal of biological chemistry 1999) 2 3 4 22 58
  2. Molecular cloning and characterization of human AOS1 and UBA2, components of the sentrin-activating enzyme complex. (PMID: 10217437) Gong L … Yeh ET (FEBS letters 1999) 3 4 22 58
  3. In vitro SUMO-1 modification requires two enzymatic steps, E1 and E2. (PMID: 9920803) Okuma T … Yasuda H (Biochemical and biophysical research communications 1999) 2 3 4 58
  4. Sumoylation of SAE2 C terminus regulates SAE nuclear localization. (PMID: 23095757) Truong K … Chen Y (The Journal of biological chemistry 2012) 3 4 58
  5. Small ubiquitin-like modifier (SUMO) modification of E1 Cys domain inhibits E1 Cys domain enzymatic activity. (PMID: 22403398) Truong K … Chen Y (The Journal of biological chemistry 2012) 3 4 58

Products for UBA2 Gene

  • Addgene plasmids for UBA2

Sources for UBA2 Gene

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