CGGBP1 (CGG triplet repeat binding protein 1)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 8545 |
| Gene name | CGG triplet repeat binding protein 1 |
| Gene symbol | CGGBP1 |
| Synonyms (NCBI Gene) |
CGGBPp20-CGGBP
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| Chromosome | 3 |
| Chromosome location | 3p11.1 |
| Summary | This gene encodes a CGG repeat-binding protein that primarily localizes to the nucleus. CGG trinucleotide repeats are implicated in many disorders as they often act as transcription- and translation-regulatory elements, can produce hairpin structures whic |
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miRNA
miRNA information provided by mirtarbase database.
738
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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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Q9UFW8 |
| Protein name | CGG triplet repeat-binding protein 1 (CGG-binding protein 1) (20 kDa CGG-binding protein) (p20-CGGBP DNA-binding protein) |
| Protein function | Binds to nonmethylated 5'-d(CGG)(n)-3' trinucleotide repeats in the FMR1 promoter. May play a role in regulating FMR1 promoter. |
| Family and domains | |
| Tissue specificity | TISSUE SPECIFICITY: Ubiquitous. Highly expressed in placenta, thymus, lymph nodes, cerebellum and cerebral cortex. Low expression in other regions of the brain. {ECO:0000269|PubMed:14667814}. |
| Sequence |
MERFVVTAPPARNRSKTALYVTPLDRVTEFGGELHEDGGKLFCTSCNVVLNHVRKSAISD |
| Sequence length | 167 |
| Interactions | View interactions |
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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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Related Genes
Genes most often co-reported with CGGBP1 across shared curated disease and pathway associations.
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Diseases Linked via Similar Genes
Diseases curated for genes most similar to CGGBP1 (see Related Genes above), that are NOT already directly curated for CGGBP1 itself -- a lead worth checking, not a confirmed association.
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