ZBTB49 (zinc finger and BTB domain containing 49)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 166793 |
| Gene name | Zinc finger and BTB domain containing 49 |
| Gene symbol | ZBTB49 |
| Synonyms (NCBI Gene) |
ZNF509
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| Chromosome | 4 |
| Chromosome location | 4p16.3 |
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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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Q6ZSB9 | |||||||||||||||||||||||||||||||||||||||||||||
| Protein name | Zinc finger and BTB domain-containing protein 49 (Zinc finger protein 509) | |||||||||||||||||||||||||||||||||||||||||||||
| Protein function | Transcription factor. Inhibits cell proliferation by activating either CDKN1A/p21 transcription or RB1 transcription. ; [Isoform 1]: Binds CDKN1A promoter and activates its transcription; this activity is | |||||||||||||||||||||||||||||||||||||||||||||
| Family and domains |
Pfam
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| Tissue specificity | TISSUE SPECIFICITY: Highly expressed in normal epidermis and in other epithelial tissues, including in colon and lung. Tends to be down-regulated in colon, lung and skin cancer tissues. {ECO:0000269|PubMed:25245946}. | |||||||||||||||||||||||||||||||||||||||||||||
| Sequence |
MDPVATHSCHLLQQLHEQRIQGLLCDCMLVVKGVCFKAHKNVLAAFSQYFRSLFQNSSSQ |
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| Sequence length | 765 | |||||||||||||||||||||||||||||||||||||||||||||
| 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 ZBTB49 across shared curated disease and pathway associations.
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Diseases Linked via Similar Genes
Diseases curated for genes most similar to ZBTB49 (see Related Genes above), that are NOT already directly curated for ZBTB49 itself -- a lead worth checking, not a confirmed association.
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