UBE2A Chromosome X
Ubiquitin conjugating enzyme E2 A
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What This Gene Does
The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, ubiquitin-conjugating enzymes, and ubiquitin-protein ligases. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. This enzyme is required for post-replicative DNA damage repair, and may play a role in transcriptional regulation. Mutations in this gene are associated with cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
Gene Info
Gene Group
Ubiquitin conjugating enzymes E2
Locus Type
gene with protein product
Location
Xq24
Ensembl
ENSG00000077721
Associated Conditions (5)
Inborn genetic diseases
Syndromic X-linked intellectual disability Nascimento type
Intellectual disability
Neurodevelopmental delay
Nonpapillary renal cell carcinoma
Key Variants
RS2520655535
Conflicting classifications of pathogenicity
Health Risk
RS1556235119
Likely pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1556235129
Likely pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1556244406
Likely pathogenic
Syndromic X-linked intellectual disability Nascimento type, Syndromic X-linked intellectual disability Nascimento type
Health Risk
RS1603308066
Likely pathogenic
Syndromic X-linked intellectual disability Nascimento type, Syndromic X-linked intellectual disability Nascimento type
Health Risk
RS2053456972
Likely pathogenic
Syndromic X-linked intellectual disability Nascimento type, Syndromic X-linked intellectual disability Nascimento type
Health Risk
RS2053457413
Likely pathogenic
Syndromic X-linked intellectual disability Nascimento type, Intellectual disability, Syndromic X-linked intellectual disability Nascimento type
Health Risk
RS2053457643
Likely pathogenic
Syndromic X-linked intellectual disability Nascimento type, Syndromic X-linked intellectual disability Nascimento type
Health Risk
RS2147373019
Likely pathogenic
Neurodevelopmental delay, Neurodevelopmental delay
Health Risk
RS2147382084
Likely pathogenic
Syndromic X-linked intellectual disability Nascimento type, Syndromic X-linked intellectual disability Nascimento type
Health Risk
RS2520655961
Likely pathogenic
Syndromic X-linked intellectual disability Nascimento type, Syndromic X-linked intellectual disability Nascimento type
Health Risk
RS2520659812
Likely pathogenic
Syndromic X-linked intellectual disability Nascimento type, Syndromic X-linked intellectual disability Nascimento type
Health Risk
All Variants (20)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2520655535 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1556235119 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1556235129 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1556244406 | Health Risk | Likely pathogenic | Syndromic X-linked intellectual disability Nascimento type, Syndromic X-linked intellectual disability Nascimento type |
| RS1603308066 | Health Risk | Likely pathogenic | Syndromic X-linked intellectual disability Nascimento type, Syndromic X-linked intellectual disability Nascimento type |
| RS2053456972 | Health Risk | Likely pathogenic | Syndromic X-linked intellectual disability Nascimento type, Syndromic X-linked intellectual disability Nascimento type |
| RS2053457413 | Health Risk | Likely pathogenic | Syndromic X-linked intellectual disability Nascimento type, Intellectual disability, Syndromic X-linked intellectual disability Nascimento type |
| RS2053457643 | Health Risk | Likely pathogenic | Syndromic X-linked intellectual disability Nascimento type, Syndromic X-linked intellectual disability Nascimento type |
| RS2147373019 | Health Risk | Likely pathogenic | Neurodevelopmental delay, Neurodevelopmental delay |
| RS2147382084 | Health Risk | Likely pathogenic | Syndromic X-linked intellectual disability Nascimento type, Syndromic X-linked intellectual disability Nascimento type |
| RS2520655961 | Health Risk | Likely pathogenic | Syndromic X-linked intellectual disability Nascimento type, Syndromic X-linked intellectual disability Nascimento type |
| RS2520659812 | Health Risk | Likely pathogenic | Syndromic X-linked intellectual disability Nascimento type, Syndromic X-linked intellectual disability Nascimento type |
| RS104894952 | Health Risk | Pathogenic | Syndromic X-linked intellectual disability Nascimento type, Syndromic X-linked intellectual disability Nascimento type |
| RS1057524693 | Health Risk | Pathogenic | — |
| RS1556235551 | Health Risk | Pathogenic | Syndromic X-linked intellectual disability Nascimento type, Syndromic X-linked intellectual disability Nascimento type |
| RS1556235612 | Health Risk | Pathogenic | Nonpapillary renal cell carcinoma, Nonpapillary renal cell carcinoma |
| RS2053404449 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2520620698 | Health Risk | Pathogenic | Syndromic X-linked intellectual disability Nascimento type, Nonpapillary renal cell carcinoma, Syndromic X-linked intellectual disability Nascimento type |
| RS2520655936 | Health Risk | Pathogenic | — |
| RS387906728 | Health Risk | Pathogenic | Syndromic X-linked intellectual disability Nascimento type, Syndromic X-linked intellectual disability Nascimento type |