TSC22D3
TSC22 Domain Family Member 3 (GILZ)
Gene Information Card
| Symbol | TSC22D3 |
|---|---|
| Full Name | TSC22 domain family member 3 |
| Gene Type | protein-coding |
| Chromosomal Location | Xq22.3 |
| NCBI Gene ID | 1831 ncbi.nlm.nih.gov/gene/1831 |
| Ensembl ID | ENSG00000157514 |
| UniProt ID | Q99576 |
| OMIM ID | 300506 |
| HGNC ID | 3051 |
| Aliases | GILZ, DSIPI, hDIP, TSC22R |
Description
TSC22D3 (TSC22 domain family member 3), commonly known as GILZ (glucocorticoid-induced leucine zipper), is a protein-coding gene located on chromosome Xq22.3. It encodes a leucine zipper protein that is rapidly induced by glucocorticoids and acts as a key mediator of their anti-inflammatory and immunosuppressive effects. GILZ functions by binding to and inhibiting NF-κB and AP-1 transcription factors, thereby modulating cytokine production and apoptosis. The gene is also involved in cell differentiation, proliferation, and survival, with implications in cancer, autoimmune diseases, and inflammatory disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Inflammatory diseases (e.g., rheumatoid arthritis, asthma) | GILZ downregulation leads to increased NF-κB activity and pro-inflammatory cytokine production | PubMed, NCBI Gene |
| Acute lymphoblastic leukemia (ALL) | GILZ mediates glucocorticoid-induced apoptosis; resistance linked to reduced GILZ expression | COSMIC, PubMed |
| Multiple sclerosis | Reduced GILZ expression in immune cells correlates with disease activity | PubMed |
| Colorectal cancer | GILZ overexpression suppresses tumor growth via inhibition of Wnt/β-catenin signaling | PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 12.5 | Medium |
| Spleen | 10.8 | Medium |
| Lung | 8.2 | Medium |
| Bone marrow | 7.5 | Low |
| Small intestine | 6.9 | Low |
| Brain | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.3 | Cervical cancer cell line |
| A549 | 12.1 | Lung carcinoma cell line |
| Jurkat | 18.7 | T-cell leukemia cell line |
| HEK293 | 9.4 | Embryonic kidney cell line |
| MCF7 | 6.8 | Breast cancer cell line |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | <0.01% | Loss of start codon; likely loss of function |
| c.100C>T (p.Arg34Trp) | missense | <0.01% | Unknown functional effect |
| c.200_201insA | frameshift | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and start-loss mutations are predicted to result in loss of GILZ protein function, potentially reducing anti-inflammatory capacity.
Gain of Function (GOF)
No gain-of-function mutations have been reported in TSC22D3.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for TSC22D3.
View complete mutation data:
Gene Ontology (GO)
Pathways
• Glucocorticoid receptor signaling pathway
• NF-kappa B signaling pathway
• Apoptosis signaling pathway
Protein Summary
The TSC22D3 protein (GILZ) is a 137-amino acid leucine zipper protein that localizes to both the nucleus and cytoplasm. It contains a TSC22 domain and a leucine zipper motif. GILZ is rapidly induced by glucocorticoids and mediates their anti-inflammatory effects by directly binding to NF-κB and AP-1, inhibiting their transcriptional activity. It also modulates apoptosis, cell cycle, and differentiation. Post-translational modifications include phosphorylation and ubiquitination, which regulate its stability and function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TSC22D3 Knockout HEK293 Cell Line | EDJ-KQ50244 | Human | 1831 | Details Get a Quote |
| TSC22D3 Knockout HeLa Cell Line | EDJ-KQ53124 | Human | 1831 | Details Get a Quote |
| TSC22D3 Knockout A-549 Cell Line | EDJ-KQ61596 | Human | 1831 | Details Get a Quote |
| TSC22D3 Knockout HCT 116 Cell Line | EDJ-KQ70086 | Human | 1831 | Details Get a Quote |
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