TSC22D1 (TSC22 domain family member 1)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 8848 |
| Gene name | TSC22 domain family member 1 |
| Gene symbol | TSC22D1 |
| Synonyms (NCBI Gene) |
HUCEP-2Ptg-2TGFB1I4TSC22
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| Chromosome | 13 |
| Chromosome location | 13q14.11 |
| Summary | This gene encodes a member of the TSC22 domain family of leucine zipper transcription factors. The encoded protein is stimulated by transforming growth factor beta, and regulates the transcription of multiple genes including C-type natriuretic peptide. Th |
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miRNA
miRNA information provided by mirtarbase database.
313
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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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Q15714 | ||||||||||
| Protein name | TSC22 domain family protein 1 (Cerebral protein 2) (HUCEP-2) (Regulatory protein TSC-22) (TGFB-stimulated clone 22 homolog) (Transforming growth factor beta-1-induced transcript 4 protein) | ||||||||||
| Protein function | Transcriptional repressor (PubMed:10488076). Acts on the C-type natriuretic peptide (CNP) promoter (PubMed:9022669). Acts to promote CASP3-mediated apoptosis (PubMed:18325344). Positively regulates TGF-beta signaling by interacting with SMAD7 wh | ||||||||||
| Family and domains |
Pfam
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| Tissue specificity | TISSUE SPECIFICITY: Ubiquitously expressed in adult tissues (PubMed:26752201, PubMed:8651929). Expressed in the postmitotic epithelial compartment at the top of intestinal mucosal villi (PubMed:12468551). {ECO:0000269|PubMed:12468551, ECO:0000269|PubMed:2 | ||||||||||
| Sequence |
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| Sequence length | 1073 | ||||||||||
| Interactions | View interactions | ||||||||||
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Associated diseases
Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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