UBR7 Chromosome 14
Ubiquitin protein ligase E3 component n-recognin 7
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What This Gene Does
This gene encodes a UBR box-containing protein that belongs to the E3 ubiquitin ligase family. The protein also contains a plant homeodomain (PHD) in the C-terminus. In mammals, the encoded protein recognizes N-degrons, the destabilizing N-terminal residues of short-lived proteins, which results in ubiquitinylation, and proteolysis via the proteasome. [provided by RefSeq, Jul 2016]
Gene Info
Gene Group
Ubiquitin protein ligase E3 component n-recognins
Locus Type
gene with protein product
Location
14q32.12
Ensembl
ENSG00000012963
Associated Conditions (2)
Li-Campeau syndrome
Mild intellectual disability
Key Variants
RS1894637828
Conflicting classifications of pathogenicity
Li-Campeau syndrome, Li-Campeau syndrome
Health Risk
RS1333901047
Likely pathogenic
Li-Campeau syndrome, Li-Campeau syndrome
Health Risk
RS2505020328
Likely pathogenic
Li-Campeau syndrome, Li-Campeau syndrome
Health Risk
RS995084790
Likely pathogenic
Li-Campeau syndrome, Li-Campeau syndrome
Health Risk
RS1225667509
Pathogenic
Li-Campeau syndrome, Li-Campeau syndrome
Health Risk
RS1566821779
Pathogenic
Li-Campeau syndrome, Li-Campeau syndrome
Health Risk
RS1894564374
Pathogenic
Li-Campeau syndrome, Li-Campeau syndrome
Health Risk
RS1894865880
Pathogenic
Li-Campeau syndrome, Li-Campeau syndrome
Health Risk
RS2140095603
Pathogenic
Mild intellectual disability, Mild intellectual disability
Health Risk
All Variants (9)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1894637828 | Health Risk | Conflicting classifications of pathogenicity | Li-Campeau syndrome, Li-Campeau syndrome |
| RS1333901047 | Health Risk | Likely pathogenic | Li-Campeau syndrome, Li-Campeau syndrome |
| RS2505020328 | Health Risk | Likely pathogenic | Li-Campeau syndrome, Li-Campeau syndrome |
| RS995084790 | Health Risk | Likely pathogenic | Li-Campeau syndrome, Li-Campeau syndrome |
| RS1225667509 | Health Risk | Pathogenic | Li-Campeau syndrome, Li-Campeau syndrome |
| RS1566821779 | Health Risk | Pathogenic | Li-Campeau syndrome, Li-Campeau syndrome |
| RS1894564374 | Health Risk | Pathogenic | Li-Campeau syndrome, Li-Campeau syndrome |
| RS1894865880 | Health Risk | Pathogenic | Li-Campeau syndrome, Li-Campeau syndrome |
| RS2140095603 | Health Risk | Pathogenic | Mild intellectual disability, Mild intellectual disability |