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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 58
  • 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 Townes-Brocks Syndrome. Among its related pathways are SUMOylation and 4-1BB Pathway. 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

Regulatory Elements for UBA2 Gene

Enhancers for UBA2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19H035246 1.4 ENCODE dbSUPER 18 +820.4 820449 3 MLX ZFP64 DMAP1 YY1 SLC30A9 ZNF416 ZNF143 ZNF548 SP3 NFYC RBM42 HAUS5 TMEM147-AS1 ZNF599 KIAA0355 KMT2B ZNF30 ZNF792 ZNF302 PROSER3
GH19H034994 2.1 FANTOM5 Ensembl ENCODE dbSUPER 9.8 +572.8 572756 13 MLX YBX1 DMAP1 YY1 SLC30A9 ZNF416 ZNF548 SP3 ZC3H11A NFYC TMEM147-AS1 ZNF599 LSM14A HAUS5 KMT2B ZNF792 ZNF302 KIAA0355 PROSER3 RBM42
GH19H035202 1.9 FANTOM5 Ensembl ENCODE dbSUPER 10.7 +777.4 777366 6 HDGF PKNOX1 ARNT SIN3A YBX1 ZNF766 CBX5 ZNF143 ZNF207 FOS ZNF599 KIAA0355 FXYD5 TMEM147-AS1 HAUS5 ZNF792 USF2 ENSG00000271049 FAM187B LSR
GH19H034972 2 FANTOM5 Ensembl ENCODE dbSUPER 9.8 +545.9 545886 2 HDGF PKNOX1 ARID4B SIN3A ZNF2 YY1 SLC30A9 ZNF302 ZNF416 ZNF207 TMEM147-AS1 LSM14A PROSER3 ZNF599 ENSG00000267049 HAUS5 KIAA0355 ZNF181 KMT2B ZNF30
GH19H035208 2 FANTOM5 Ensembl ENCODE dbSUPER 9.8 +784.2 784249 7 PKNOX1 FOXA2 FEZF1 ZNF2 SP3 SP5 JUNB ZNF592 MEF2D SREBF1 ZNF599 TMEM147-AS1 KIAA0355 HAUS5 PROSER3 RBM42 MAG ZNF792 SDHAF1 USF2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around UBA2 on UCSC Golden Path with GeneCards custom track

Promoters for UBA2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000108897 724 1801 ARNT ARID4B SIN3A DMAP1 ZNF2 ZNF766 ZNF143 SP3 SP5 MXD4

Genomic Location for UBA2 Gene

Chromosome:
19
Start:
34,428,176 bp from pter
End:
34,471,251 bp from pter
Size:
43,076 bases
Orientation:
Plus strand

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 Lys65, Lys77, posLast=245245, Lys253, posLast=257257, posLast=316316, Lys324, Lys336, posLast=420420, and Lys472
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for UBA2 (SAE2)

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

  • Taconic Biosciences Mouse Models for UBA2

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for UBA2
  • Applied Biological Materials Clones for UBA2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 --
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 Nutra 0
ATP 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

Clone Products

  • Addgene plasmids for UBA2
  • Applied Biological Materials Clones for UBA2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

Primer Products

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 Sequence Context AA Info Type
rs1000087071 -- 34,467,663(+) CCCAG(C/G)TACTC intron-variant, downstream-variant-500B
rs1000090604 -- 34,463,058(+) TGCCA(C/G)TGCAC intron-variant
rs1000094275 -- 34,428,683(+) CCGGA(G/T)TTGCG intron-variant
rs1000145096 -- 34,456,344(+) CCTGG(C/T)CTGAA intron-variant
rs1000164033 -- 34,444,732(+) AGCCC(A/G)AGAGG intron-variant

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

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

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)

Relevant External Links 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

(2) MalaCards diseases for UBA2 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
chromosome 19q13.11 deletion syndrome
  • 19q13.11 microdeletion syndrome
townes-brocks syndrome
  • anus, imperforate, with hand, foot and ear anomalies
- elite association - COSMIC cancer census association via MalaCards
Search UBA2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for UBA2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 60
  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 60
  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 60
  4. Sumoylation of SAE2 C terminus regulates SAE nuclear localization. (PMID: 23095757) Truong K … Chen Y (The Journal of biological chemistry 2012) 3 4 60
  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 60

Products for UBA2 Gene

  • Addgene plasmids for UBA2

Sources for UBA2 Gene

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