UBR2 (ubiquitin protein ligase E3 component n-recognin 2)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 23304 |
| Gene name | Ubiquitin protein ligase E3 component n-recognin 2 |
| Gene symbol | UBR2 |
| Synonyms (NCBI Gene) |
C6orf133bA49A4.1dJ242G1.1dJ392M17.3
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| Chromosome | 6 |
| Chromosome location | 6p21.1 |
| Summary | This gene encodes an E3 ubiquitin ligase of the N-end rule proteolytic pathway that targets proteins with destabilizing N-terminal residues for polyubiquitylation and proteasome-mediated degradation. Alternative splicing results in multiple transcript var |
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miRNA
miRNA information provided by mirtarbase database.
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Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Other IDs
Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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Protein
Protein information from UniProt database.
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UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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Q8IWV8 | ||||||||||||||||||||
| Protein name | E3 ubiquitin-protein ligase UBR2 (EC 2.3.2.27) (N-recognin-2) (Ubiquitin-protein ligase E3-alpha-2) (Ubiquitin-protein ligase E3-alpha-II) | ||||||||||||||||||||
| Protein function | E3 ubiquitin-protein ligase which is a component of the N-end rule pathway (PubMed:15548684, PubMed:20835242, PubMed:28392261). Recognizes and binds to proteins bearing specific N-terminal residues (N-degrons) that are destabilizing according to | ||||||||||||||||||||
| PDB | 3NY2 , 3NY3 , 5TDA , 5TDB , 5TDD , 5UM3 | ||||||||||||||||||||
| Family and domains |
Pfam
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| Tissue specificity | TISSUE SPECIFICITY: Broadly expressed, with highest levels in skeletal muscle, kidney and pancreas. Present in acinar cells of the pancreas (at protein level). {ECO:0000269|PubMed:15548684, ECO:0000269|PubMed:16311597}. | ||||||||||||||||||||
| Sequence |
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| Sequence length | 1755 | ||||||||||||||||||||
| Interactions | View interactions | ||||||||||||||||||||
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Pathways
Pathway information has different metabolic/signaling pathways associated with genes.
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Associated diseases
Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Evidence Score:
★☆☆☆☆ Gene-disease association found in Text Mining only
★★☆☆☆ Found in Text Mining and Unknown/Other Associations
★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources
★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
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