CELF5 (CUGBP Elav-like family member 5)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 60680 |
| Gene name | CUGBP Elav-like family member 5 |
| Gene symbol | CELF5 |
| Synonyms (NCBI Gene) |
BRUNOL-5BRUNOL5CELF-5
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| Chromosome | 19 |
| Chromosome location | 19p13.3 |
| Summary | This gene encodes a member of the the CELF/BRUNOL protein family, which contain two N-terminal RNA recognition motif (RRM) domains, one C-terminal RRM domain, and a divergent segment of 160-230 aa between the second and third RRM domains. Members of this |
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miRNA
miRNA information provided by mirtarbase database.
157
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Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
16
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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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Q8N6W0 | ||||||||||||||||||||
| Protein name | CUGBP Elav-like family member 5 (CELF-5) (Bruno-like protein 5) (CUG-BP- and ETR-3-like factor 5) (RNA-binding protein BRUNOL-5) | ||||||||||||||||||||
| Protein function | RNA-binding protein implicated in the regulation of pre-mRNA alternative splicing. Mediates exon inclusion and/or exclusion in pre-mRNA that are subject to tissue-specific and developmentally regulated alternative splicing. Specifically activate | ||||||||||||||||||||
| PDB | 2DNH | ||||||||||||||||||||
| Family and domains |
Pfam
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| Tissue specificity | TISSUE SPECIFICITY: Expressed in brain. {ECO:0000269|PubMed:11158314}. | ||||||||||||||||||||
| Sequence |
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| Sequence length | 485 | ||||||||||||||||||||
| 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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