Haematological malignancies cancer susceptibility
Gene: UBA2
UBA2 (ubiquitin like modifier activating enzyme 2)
EnsemblGeneIds (GRCh38): ENSG00000126261
EnsemblGeneIds (GRCh37): ENSG00000126261
OMIM: 613295, Gene2Phenotype
UBA2 is in 5 panels
EnsemblGeneIds (GRCh38): ENSG00000126261
EnsemblGeneIds (GRCh37): ENSG00000126261
OMIM: 613295, Gene2Phenotype
UBA2 is in 5 panels
1 review
Sarah Leigh (Genomics England Curator)
PMID:34982829 reports: for the first time to our knowledge, provided evidence of a UBA2 variant (somatic frameshift deletion) preceding the well-established initiating event ETV6-RUNX1. Further, we suggest the UBA2 deletion exerted a leukemia predisposing effect and that its essential role in Small Ubiquitin-like Modifier (SUMO) attachment (SUMOylation), regulating nearly all physiological and pathological cellular processes such as DNA-repair by nonhomologous end joining, may hold a mechanistic explanation for the predisposition.
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Sources: LiteratureCreated: 21 Apr 2022, 2:42 p.m.
Mode of inheritance
Other
Phenotypes
lymphoblastic leukemia
Publications
Details
- Mode of Inheritance
- Other
- Sources
-
- Literature
- Phenotypes
-
- acute lymphoblastic leukemia
- OMIM
- 613295
- Clinvar variants
- Variants in UBA2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
21 Apr 2022, Gel status: 1
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: UBA2 were changed from lymphoblastic leukemia to acute lymphoblastic leukemia
21 Apr 2022, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Sarah Leigh (Genomics England Curator)gene: UBA2 was added gene: UBA2 was added to Haematological malignancies cancer susceptibility. Sources: Literature Mode of inheritance for gene: UBA2 was set to Other Publications for gene: UBA2 were set to 34982829 Phenotypes for gene: UBA2 were set to lymphoblastic leukemia Review for gene: UBA2 was set to RED