Identity
HGNC
LOCATION
Xq24
LOCUSID
ALIAS
HHR6A,MRXS30,MRXSN,RAD6A,UBC2
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 7319
MIM: 312180
HGNC: 12472
Ensembl: ENSG00000077721
Variants:
dbSNP: 7319
ClinVar: 7319
TCGA: ENSG00000077721
COSMIC: UBE2A
RNA/Proteins
Expression (GTEx)
Pathways
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 35613580 | 2022 | Redox-sensitive E2 Rad6 controls cellular response to oxidative stress via K63-linked ubiquitination of ribosomes. | 10 |
| 36162503 | 2022 | Mutations of Rad6 E2 ubiquitin-conjugating enzymes at alanine-126 in helix-3 affect ubiquitination activity and decrease enzyme stability. | 4 |
| 35613580 | 2022 | Redox-sensitive E2 Rad6 controls cellular response to oxidative stress via K63-linked ubiquitination of ribosomes. | 10 |
| 36162503 | 2022 | Mutations of Rad6 E2 ubiquitin-conjugating enzymes at alanine-126 in helix-3 affect ubiquitination activity and decrease enzyme stability. | 4 |
| 33368912 | 2021 | A novel missense mutation in the UBE2A gene causes intellectual disability in the large X-linked family. | 2 |
| 33673493 | 2021 | The Role of the Reanalysis of Genetic Test Results in the Diagnosis of Dysmorphic Syndrome Caused by Inherited xq24 Deletion including the UBE2A and CXorf56 Genes. | 3 |
| 33368912 | 2021 | A novel missense mutation in the UBE2A gene causes intellectual disability in the large X-linked family. | 2 |
| 33673493 | 2021 | The Role of the Reanalysis of Genetic Test Results in the Diagnosis of Dysmorphic Syndrome Caused by Inherited xq24 Deletion including the UBE2A and CXorf56 Genes. | 3 |
| 32222108 | 2020 | A novel UBE2A mutation in a Chinese family with X-linked intellectual disability. | 1 |
| 32415735 | 2020 | Refinement of the clinical and mutational spectrum of UBE2A deficiency syndrome. | 4 |
| 32485717 | 2020 | Delineation of Clinical Manifestations of the Inherited Xq24 Microdeletion Segregating with sXCI in Mothers: Two Novel Cases with Distinct Phenotypes Ranging from UBE2A Deficiency Syndrome to Recurrent Pregnancy Loss. | 4 |
| 32222108 | 2020 | A novel UBE2A mutation in a Chinese family with X-linked intellectual disability. | 1 |
| 32415735 | 2020 | Refinement of the clinical and mutational spectrum of UBE2A deficiency syndrome. | 4 |
| 32485717 | 2020 | Delineation of Clinical Manifestations of the Inherited Xq24 Microdeletion Segregating with sXCI in Mothers: Two Novel Cases with Distinct Phenotypes Ranging from UBE2A Deficiency Syndrome to Recurrent Pregnancy Loss. | 4 |
| 30531907 | 2019 | Mechanistic insights revealed by a UBE2A mutation linked to intellectual disability. | 12 |
Citation
Dessen P
UBE2A (ubiquitin conjugating enzyme E2 A)
Atlas Genet Cytogenet Oncol Haematol. 2003-11-01
Online version: http://atlasgeneticsoncology.org/gene/42746/ube2a
