TSC22D1: TSC22 Domain Family Member 1
Transcriptional regulator implicated in cancer, immune response, and development
Gene Information Card
| Symbol | TSC22D1 |
|---|---|
| Full Name | TSC22 domain family member 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 13q14.11 |
| NCBI Gene ID | 8848 ncbi.nlm.nih.gov/gene/8848 |
| Ensembl ID | ENSG00000102804 |
| UniProt ID | Q15714 |
| OMIM ID | 607715 |
| HGNC ID | 12397 |
| Aliases | TSC22, TGFB1I4, Ptg-2, DKFZp686I1520 |
Description
TSC22D1 encodes a leucine zipper-containing transcription factor that acts as a transcriptional repressor. It is involved in TGF-beta signaling, apoptosis, cell cycle regulation, and immune modulation. The protein is widely expressed and its dysregulation is linked to various cancers and inflammatory conditions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Prostate cancer | Downregulation of TSC22D1 promotes cell proliferation and invasion | PMID: 21573172 |
| Colorectal cancer | Reduced expression correlates with poor prognosis | PMID: 23361059 |
| Breast cancer | TSC22D1 acts as a tumor suppressor; loss of expression associated with metastasis | PMID: 19680221 |
| Gastric cancer | Hypermethylation of TSC22D1 promoter leads to silencing | PMID: 21779515 |
| Rheumatoid arthritis | TSC22D1 modulates inflammatory cytokine expression | PMID: 20037588 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.3 | Medium |
| Heart | 8.7 | Low |
| Lung | 15.2 | Medium |
| Liver | 6.4 | Low |
| Kidney | 10.1 | Medium |
| Prostate | 18.5 | High |
| Colon | 14.0 | Medium |
| Breast | 9.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 11.2 | Cervical cancer cell line |
| MCF7 | 8.5 | Breast cancer cell line |
| A549 | 14.7 | Lung cancer cell line |
| HepG2 | 7.3 | Liver cancer cell line |
| PC3 | 20.1 | Prostate cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | missense | <0.01% | Unknown |
| c.214C>T | nonsense | <0.01% | Loss of function |
| c.487G>A | missense | <0.01% | Unknown |
| c.632_633insA | frameshift | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., c.214C>T, c.632_633insA) lead to truncated protein and loss of transcriptional repressor activity.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in TSC22D1.
Dominant Negative (DN)
No dominant-negative mutations described for TSC22D1.
View complete mutation data：
Gene Ontology (GO)
Pathways
• TGF-beta signaling pathway (KEGG: hsa04350)
• Apoptosis (KEGG: hsa04210)
• p53 signaling pathway (KEGG: hsa04115)
Protein Summary
TSC22D1 is a 144-amino acid protein containing a TSC22 box and a leucine zipper domain. It functions as a transcriptional repressor, often acting downstream of TGF-beta signaling. The protein is predominantly nuclear but can also localize to the cytoplasm. It plays roles in apoptosis, cell cycle arrest, and immune regulation. Post-translational modifications include phosphorylation and sumoylation, which modulate its activity and stability.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TSC22D1 Knockout HEK293 Cell Line | EDJ-KQ5700 | Human | 8848 | Details Get a Quote |
| TSC22D1 Knockout A-549 Cell Line | EDJ-KQ30394 | Human | 8848 | Details Get a Quote |
| TSC22D1 Knockout HCT 116 Cell Line | EDJ-KQ30396 | Human | 8848 | Details Get a Quote |
| TSC22D1 Knockout HeLa Cell Line | EDJ-KQ30397 | Human | 8848 | Details Get a Quote |
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