BEND3 (BEN domain containing 3)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 57673 |
| Gene name | BEN domain containing 3 |
| Gene symbol | BEND3 |
| Synonyms (NCBI Gene) |
KIAA1553
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| Chromosome | 6 |
| Chromosome location | 6q21 |
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miRNA
miRNA information provided by mirtarbase database.
402
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Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
19
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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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Q5T5X7 | |||||||||||||||||||||||||
| Protein name | BEN domain-containing protein 3 | |||||||||||||||||||||||||
| Protein function | Transcriptional repressor which associates with the NoRC (nucleolar remodeling complex) complex and plays a key role in repressing rDNA transcription. The sumoylated form modulates the stability of the NoRC complex component BAZ2A/TIP5 by contro | |||||||||||||||||||||||||
| PDB | 5JNO , 7W27 | |||||||||||||||||||||||||
| Family and domains |
Pfam
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| Tissue specificity | TISSUE SPECIFICITY: Expressed at least in heart, kidney, liver, ovary and spleen, with highest levels in spleen and lowest in heart. Expressed on the surface of T-cells. {ECO:0000269|PubMed:21914818, ECO:0000269|PubMed:25400923}. | |||||||||||||||||||||||||
| Sequence |
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| Sequence length | 828 | |||||||||||||||||||||||||
| Interactions | View interactions | |||||||||||||||||||||||||
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Associated diseases
Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
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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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