UBA2 Chromosome 19
Ubiquitin like modifier activating enzyme 2
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What This Gene Does
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]
Gene Info
Gene Group
Ubiquitin like modifier activating enzymes
Locus Type
gene with protein product
Location
19q13.11
Ensembl
ENSG00000126261
Associated Conditions (5)
ACCES syndrome
Inborn genetic diseases
UBA2-related disorder
Chromosome 19q13.11 deletion syndrome
distal
Key Variants
RS1043062
Conflicting classifications of pathogenicity
ACCES syndrome, ACCES syndrome
Health Risk
RS2513988291
Conflicting classifications of pathogenicity
ACCES syndrome, ACCES syndrome
Health Risk
RS1555725969
Likely pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2075211884
Likely pathogenic
ACCES syndrome, ACCES syndrome
Health Risk
RS2075242496
Likely pathogenic
Health Risk
RS2075619600
Likely pathogenic
ACCES syndrome, ACCES syndrome
Health Risk
RS2513965734
Likely pathogenic
UBA2-related disorder, UBA2-related disorder
Health Risk
RS1555729503
Pathogenic
Inborn genetic diseases, ACCES syndrome, Inborn genetic diseases
Health Risk
RS1555731122
Pathogenic
Health Risk
RS1599889628
Pathogenic
UBA2-related disorder, ACCES syndrome, UBA2-related disorder
Health Risk
RS2075478466
Pathogenic
Chromosome 19q13.11 deletion syndrome, distal, Chromosome 19q13.11 deletion syndrome
Health Risk
RS2145491684
Pathogenic
ACCES syndrome, ACCES syndrome
Health Risk
All Variants (18)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1043062 | Health Risk | Conflicting classifications of pathogenicity | ACCES syndrome, ACCES syndrome |
| RS2513988291 | Health Risk | Conflicting classifications of pathogenicity | ACCES syndrome, ACCES syndrome |
| RS1555725969 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2075211884 | Health Risk | Likely pathogenic | ACCES syndrome, ACCES syndrome |
| RS2075242496 | Health Risk | Likely pathogenic | — |
| RS2075619600 | Health Risk | Likely pathogenic | ACCES syndrome, ACCES syndrome |
| RS2513965734 | Health Risk | Likely pathogenic | UBA2-related disorder, UBA2-related disorder |
| RS1555729503 | Health Risk | Pathogenic | Inborn genetic diseases, ACCES syndrome, Inborn genetic diseases |
| RS1555731122 | Health Risk | Pathogenic | — |
| RS1599889628 | Health Risk | Pathogenic | UBA2-related disorder, ACCES syndrome, UBA2-related disorder |
| RS2075478466 | Health Risk | Pathogenic | Chromosome 19q13.11 deletion syndrome, distal, Chromosome 19q13.11 deletion syndrome |
| RS2145491684 | Health Risk | Pathogenic | ACCES syndrome, ACCES syndrome |
| RS2145516660 | Health Risk | Pathogenic | ACCES syndrome, ACCES syndrome |
| RS2145557980 | Health Risk | Pathogenic | ACCES syndrome, ACCES syndrome |
| RS2513935979 | Health Risk | Pathogenic | ACCES syndrome, ACCES syndrome |
| RS2513944405 | Health Risk | Pathogenic | ACCES syndrome, ACCES syndrome |
| RS2513965312 | Health Risk | Pathogenic | ACCES syndrome, ACCES syndrome |
| RS2075210211 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |