TSC22D2 Gene - TSC22 Domain Family Member 2
Comprehensive genomic and functional analysis of TSC22D2, a leucine zipper transcription factor implicated in cellular stress response and tumor suppression.
Gene Information Card
| Symbol | TSC22D2 |
|---|---|
| Full Name | TSC22 domain family member 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 3q25.31 |
| NCBI Gene ID | 9819 ncbi.nlm.nih.gov/gene/9819 |
| Ensembl ID | ENSG00000114770 |
| UniProt ID | Q9Y3Q8 |
| OMIM ID | 607775 |
| HGNC ID | 29069 |
| Aliases | TSC22D4, TSC22 domain family 4, TSC22 domain family member 4 (obsolete) |
Description
TSC22D2 (TSC22 domain family member 2) is a protein-coding gene located on chromosome 3q25.31. It encodes a leucine zipper-containing transcription factor involved in the regulation of cell proliferation, differentiation, and apoptosis. The protein is a member of the TSC22 domain family, which is characterized by a conserved TSC22 domain and a leucine zipper motif. TSC22D2 is implicated in cellular stress responses and has been studied for its potential role as a tumor suppressor in various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | Altered expression and potential tumor suppressor activity; downregulation observed in tumor tissues compared to normal colon. | PubMed studies; COSMIC mutation data |
| Breast cancer | Reduced expression correlates with poor prognosis; may modulate TGF-beta signaling. | PubMed; TCGA expression analysis |
| Prostate cancer | Methylation-associated silencing reported; loss of expression linked to aggressive disease. | PubMed; COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Liver | 6.1 | Low |
| Kidney | 15.2 | Medium |
| Testis | 20.4 | High |
| Colon | 9.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 18.5 | Embryonic kidney; high expression |
| HeLa | 7.2 | Cervical cancer; moderate expression |
| HepG2 | 5.8 | Hepatocellular carcinoma; low expression |
| MCF7 | 11.3 | Breast cancer; moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Met) | Missense | <0.1% | Unknown; predicted benign by SIFT |
| c.457G>A (p.Gly153Ser) | Missense | <0.1% | Unknown; predicted damaging by PolyPhen-2 |
| c.832_833insA | Frameshift | <0.1% | Loss of function; truncation |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations (e.g., c.832_833insA) are predicted to cause loss of function via premature truncation.
Gain of Function (GOF)
No gain-of-function mutations have been reported for TSC22D2.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for TSC22D2.
View complete mutation data：
Gene Ontology (GO)
Pathways
• TGF-beta signaling pathway (Reactome: R-HSA-170834)
• Transcriptional regulation by TSC22 family (GeneCards inferred)
Protein Summary
The TSC22D2 protein (UniProt Q9Y3Q8) is 479 amino acids long and contains a TSC22 domain (residues 1-70) and a leucine zipper motif (residues 71-92). It localizes to the nucleus and functions as a transcription factor. The leucine zipper mediates dimerization, which is essential for DNA binding and transcriptional regulation. TSC22D2 is involved in modulating TGF-beta signaling and apoptosis. Post-translational modifications include phosphorylation, which may regulate its activity and stability.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TSC22D2 Knockout HEK293 Cell Line | EDJ-KQ6761 | Human | 9819 | Details Get a Quote |
| TSC22D2 Knockout HCT 116 Cell Line | EDJ-KQ31195 | Human | 9819 | Details Get a Quote |
| TSC22D2 Knockout HeLa Cell Line | EDJ-KQ31196 | Human | 9819 | Details Get a Quote |
| TSC22D2 Knockout A-549 Cell Line | EDJ-KQ63739 | Human | 9819 | Details Get a Quote |
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