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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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UBA2
ubiquitin like modifier activating enzyme 2
Chromosome 19 Β· 19q13.11
NCBI Gene: 10054Ensembl: ENSG00000126261.13HGNC: HGNC:30661UniProt: Q9UBT2
148PubMed Papers
21Diseases
0Drugs
28Pathogenic Variants
FUNCTIONAL ROLE
Highly Constrained
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
SUMO activating enzyme activitymagnesium ion bindingprotein bindingATP bindingACCES syndromeaplasia cutis congenitasplit hand-foot malformationneurodegenerative disease
✦AI Summary

UBA2 (ubiquitin-like modifier activating enzyme 2) functions as the catalytic subunit of the heterodimeric SUMO E1-activating enzyme complex, mediating ATP-dependent activation of SUMO proteins and formation of thioester bonds with target substrates 12. The enzyme facilitates SUMOylation of various proteins including PKM2, promoting metabolic reprogramming in cancer cells by enhancing aerobic glycolysis and the Warburg effect 12. UBA2 also SUMOylates NQO1 at lysine residue K240, modulating MAPK pathway signaling in hepatocellular carcinoma progression 3. In laryngeal cancer, UBA2 interacts with TMA7 to regulate autophagy through the PI3K pathway 4. Clinically, UBA2 overexpression correlates with poor prognosis across multiple cancer types including hepatocellular carcinoma, glioma, and multiple myeloma 356. Hyperactive SUMO signaling characterized by high UBA2 expression is associated with proteasome inhibitor resistance in multiple myeloma 6. Additionally, UBA2 mutations cause ACCES syndrome, characterized by aplasia cutis congenita, skeletal abnormalities, and developmental defects 7. Therapeutic targeting of UBA2 with SUMO inhibitors shows promise for cancer treatment, particularly in resistant cases 63.

Sources cited
1
UBA2 facilitates SUMOylation of PKM2 and promotes Warburg effect in ovarian cancer
PMID: 38720298
2
UBA2 enables SUMO1 activation and PKM2 sumoylation in hepatocellular carcinoma metabolism
PMID: 36116159
3
UBA2 SUMOylates NQO1 at K240 and correlates with poor prognosis in hepatocellular carcinoma
PMID: 39013843
4
UBA2 interacts with TMA7 and regulates autophagy via PI3K pathway in laryngeal cancer
PMID: 37056932
5
High UBA2 expression associates with poor survival and proteasome inhibitor resistance in multiple myeloma
PMID: 35917568
6
UBA2 overexpression correlates with WHO grade and poor survival in glioma
PMID: 38682183
7
UBA2 mutations cause ACCES syndrome with aplasia cutis congenita and skeletal abnormalities
PMID: 40249340
8
UBA2-WTIP fusion gene identified in acute myeloid leukemia with oncogenic properties
PMID: 30179602
Disease Associationsβ“˜21
ACCES syndromeOpen Targets
0.77Strong
aplasia cutis congenitaOpen Targets
0.56Moderate
split hand-foot malformationOpen Targets
0.56Moderate
neurodegenerative diseaseOpen Targets
0.54Moderate
EctrodactylyOpen Targets
0.49Moderate
Split hand-split foot malformationOpen Targets
0.49Moderate
genetic disorderOpen Targets
0.47Moderate
split hand or/and split foot malformationOpen Targets
0.46Moderate
19q13.11 microdeletion syndromeOpen Targets
0.34Weak
chromosome 19q13.11 deletion syndromeOpen Targets
0.34Weak
gastric cancerOpen Targets
0.09Suggestive
gliomaOpen Targets
0.09Suggestive
colorectal cancerOpen Targets
0.08Suggestive
neoplasmOpen Targets
0.08Suggestive
Miyoshi myopathyOpen Targets
0.08Suggestive
lung adenocarcinomaOpen Targets
0.08Suggestive
small cell lung carcinomaOpen Targets
0.08Suggestive
Mantle cell lymphomaOpen Targets
0.07Suggestive
colorectal carcinomaOpen Targets
0.05Suggestive
laryngeal squamous cell carcinomaOpen Targets
0.05Suggestive
ACCES syndromeUniProt
Pathogenic Variants28
NM_005499.3(UBA2):c.364C>T (p.Arg122Ter)Pathogenic
not provided|UBA2-related disorder|ACCES syndrome
β˜…β˜…β˜†β˜†2024β†’ Residue 122
NM_005499.3(UBA2):c.1A>G (p.Met1Val)Pathogenic
Inborn genetic diseases|not provided
β˜…β˜…β˜†β˜†2023β†’ Residue 1
NM_005499.3(UBA2):c.149A>G (p.Asp50Gly)Likely pathogenic
ACCES syndrome
β˜…β˜†β˜†β˜†2026β†’ Residue 50
NM_005499.3(UBA2):c.439C>T (p.Gln147Ter)Likely pathogenic
ACCES syndrome
β˜…β˜†β˜†β˜†2026β†’ Residue 147
NM_005499.3(UBA2):c.1038+1G>ALikely pathogenic
ACCES syndrome
β˜…β˜†β˜†β˜†2025
NM_005499.3(UBA2):c.357_358del (p.Arg119fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 119
NM_005499.3(UBA2):c.336dup (p.Met113fs)Pathogenic
ACCES syndrome
β˜…β˜†β˜†β˜†2024β†’ Residue 113
NM_005499.3(UBA2):c.650-1G>CPathogenic
not provided
β˜…β˜†β˜†β˜†2024
NM_005499.3(UBA2):c.319C>T (p.Arg107Ter)Likely pathogenic
ACCES syndrome
β˜…β˜†β˜†β˜†2024β†’ Residue 107
NM_005499.3(UBA2):c.460-2A>GPathogenic
ACCES syndrome
β˜…β˜†β˜†β˜†2024
NM_005499.3(UBA2):c.649+1G>APathogenic
ACCES syndrome
β˜…β˜†β˜†β˜†2024
NM_005499.3(UBA2):c.816_817del (p.Trp273fs)Pathogenic
Inborn genetic diseases|ACCES syndrome
β˜…β˜†β˜†β˜†2023β†’ Residue 273
NM_005499.3(UBA2):c.52_58del (p.Gly18fs)Likely pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2023β†’ Residue 18
NM_005499.3(UBA2):c.1376dup (p.Thr460fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2021β†’ Residue 460
NM_005499.3(UBA2):c.800T>A (p.Leu267Ter)Pathogenic
Chromosome 19q13.11 deletion syndrome, distal
β˜…β˜†β˜†β˜†2020β†’ Residue 267
NM_005499.3(UBA2):c.71G>T (p.Gly24Val)Likely pathogenic
not provided|ACCES syndrome
β˜…β˜†β˜†β˜†2020β†’ Residue 24
NM_005499.3(UBA2):c.167A>C (p.Asn56Thr)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2020β†’ Residue 56
NM_005499.3(UBA2):c.1447G>A (p.Glu483Lys)Likely pathogenic
not provided|ACCES syndrome
β˜…β˜†β˜†β˜†2020β†’ Residue 483
NM_005499.3(UBA2):c.52_58dup (p.Val20fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2020β†’ Residue 20
NM_005499.3(UBA2):c.1173_1174dup (p.Ala392fs)Likely pathogenic
UBA2-related disorder
β˜…β˜†β˜†β˜†β†’ Residue 392
View on ClinVar β†—
Related Genes
UBCProtein interaction100%SUMO1Protein interaction100%UBE2IProtein interaction100%RANGAP1Protein interaction92%KCTD2Protein interaction89%NEDD8Protein interaction88%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
95%
Heart
79%
Lung
70%
Ovary
70%
Liver
40%
Gene Interaction Network
Click a node to explore
UBA2UBCSUMO1UBE2IRANGAP1KCTD2NEDD8
PROTEIN STRUCTURE
Preparing viewer…
PDB6XOG Β· 1.98 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.26Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.13 [0.07–0.26]
RankingsWhere UBA2 stands among ~20K protein-coding genes
  • #3,075of 20,598
    Most Researched148 Β· top quartile
  • #1,867of 5,498
    Most Pathogenic Variants28
  • #826of 17,882
    Most Constrained (LOEUF)0.26 Β· top 5%
Genes detectedUBA2
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
ESM1 enhances fatty acid synthesis and vascular mimicry in ovarian cancer by utilizing the PKM2-dependent warburg effect within the hypoxic tumor microenvironment.
PMID: 38720298
Mol Cancer Β· 2024
1.00
2
GTPBP4 promotes hepatocellular carcinoma progression and metastasis via the PKM2 dependent glucose metabolism.
PMID: 36116159
Redox Biol Β· 2022
0.90
3
UBA2 SUMOylates NQO1 and promotes the proliferation of hepatocellular carcinoma by modulating the MAPK pathway.
PMID: 39013843
Cancer Sci Β· 2024
0.80
4
IGF2BP3 Regulates TMA7-mediated Autophagy and Cisplatin Resistance in Laryngeal Cancer via m6A RNA Methylation.
PMID: 37056932
Int J Biol Sci Β· 2023
0.70
5
SUMOylation inhibition overcomes proteasome inhibitor resistance in multiple myeloma.
PMID: 35917568
Blood Adv Β· 2023
0.60