TSC22D1 (TSC22 domain family member 1)
| Gene | |
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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8848 |
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Gene name
Gene Name - the full gene name approved by the HGNC.
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TSC22 domain family member 1 |
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Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
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TSC22D1 |
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Synonyms (NCBI Gene)
Gene synonyms aliases
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HUCEP-2, Ptg-2, TGFB1I4, TSC22 |
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Chromosome
Chromosome number
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13 |
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Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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13q14.11 |
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Summary
Summary of gene provided in NCBI Entrez Gene.
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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.
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Gene ontology (GO)
Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDs
Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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| Protein | |||||||||||
| UniProt ID | 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 categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
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