TP53TG3 (TP53 Target Gene 3): A p53-Regulated Gene with Potential Roles in Cancer and Cellular Stress
Explore the genomic context, expression patterns, and disease associations of TP53TG3, a p53-responsive gene implicated in tumor biology.
Gene Information Card
| Symbol | TP53TG3 |
|---|---|
| Full Name | TP53 target gene 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 16p11.2 |
| NCBI Gene ID | 24150 ncbi.nlm.nih.gov/gene/24150 |
| Ensembl ID | ENSG00000161905 |
| UniProt ID | Q9H1W3 |
| OMIM ID | 605162 |
| HGNC ID | 11996 |
| Aliases | TP53TG3A, LINC00630 (read-through), TP53TG3B, TP53TG3C (paralogs) |
Description
TP53TG3 (TP53 target gene 3) is a protein-coding gene located on chromosome 16p11.2. It is one of several genes regulated by the tumor suppressor p53, which plays a central role in cellular stress responses, DNA repair, and apoptosis. The gene is part of a duplicated region on chromosome 16, giving rise to multiple paralogs (TP53TG3B, TP53TG3C). TP53TG3 expression is induced by p53 in response to DNA damage, and its protein product is thought to be involved in cell cycle regulation and apoptosis. Aberrant expression of TP53TG3 has been observed in various cancers, suggesting a potential role in tumorigenesis, though its exact molecular function remains under investigation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | TP53TG3 is a p53 target gene; p53 mutations or dysregulation can lead to altered TP53TG3 expression, potentially affecting apoptosis and cell proliferation. | Expression studies in multiple cancer types (e.g., breast, lung, colorectal) show differential expression compared to normal tissue (COSMIC, literature). |
| Li-Fraumeni syndrome (related) | Germline TP53 mutations cause Li-Fraumeni syndrome; TP53TG3 as a downstream target may contribute to the phenotype, but direct evidence is limited. | OMIM entry for TP53 (191170) and TP53TG3 (605162) provide context; no direct clinical association reported. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Thyroid | 8.1 | Low |
| Prostate | 6.5 | Low |
| Lung | 4.2 | Low |
| Breast | 3.8 | Low |
| Colon | 2.9 | Low |
| Brain | 1.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung carcinoma) | 15.2 | p53 wild-type; expression may increase upon DNA damage |
| MCF7 (breast carcinoma) | 10.4 | p53 wild-type; estrogen receptor positive |
| HeLa (cervical carcinoma) | 5.6 | p53 inactivated by HPV E6; lower expression |
| HCT116 (colorectal carcinoma) | 8.9 | p53 wild-type; used in p53 studies |
| U2OS (osteosarcoma) | 7.3 | p53 wild-type; commonly used for p53 pathway studies |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1Val) | Missense | Rare (COSMIC) | Potential loss of start codon; functional impact unknown |
| c.215C>T (p.Pro72Leu) | Missense | Rare (COSMIC) | May affect protein stability; not well characterized |
| c.345G>A (p.Val115Ile) | Missense | Rare (COSMIC) | Unknown effect; likely benign |
| c.456delC (frameshift) | Frameshift | Very rare (COSMIC) | Predicted to cause premature truncation; likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift or nonsense mutations that truncate the protein are predicted to result in loss of function, potentially impairing p53-mediated apoptosis.
Gain of Function (GOF)
No evidence for gain-of-function mutations; overexpression of wild-type TP53TG3 may have oncogenic effects in some contexts.
Dominant Negative (DN)
No evidence for dominant-negative effects; TP53TG3 is not known to form multimers.
View complete mutation data:
Gene Ontology (GO)
Pathways
• p53 signaling pathway (KEGG: hsa04115)
• Apoptosis (KEGG: hsa04210)
• Cellular senescence (KEGG: hsa04218)
Protein Summary
The TP53TG3 protein is a small, largely uncharacterized protein of approximately 200 amino acids. It is localized to the cytoplasm and is induced by p53 upon DNA damage. The protein contains no known functional domains, but it is predicted to be involved in protein-protein interactions. Its exact role in apoptosis and cell cycle regulation is still under study, but it is believed to act as a downstream effector of p53, potentially modulating the balance between cell survival and death. The presence of multiple paralogs suggests functional redundancy or tissue-specific roles.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TP53TG3B Knockout HEK293 Cell Line | EDJ-KQ15097 | Human | 729355 | Details Get a Quote |
| TP53TG3C Knockout HEK293 Cell Line | EDJ-KQ15890 | Human | 653550 | Details Get a Quote |
| TP53TG3D Knockout HEK293 Cell Line | EDJ-KQ15891 | Human | 729264 | Details Get a Quote |
| TP53TG3E Knockout HEK293 Cell Line | EDJ-KQ15892 | Human | 102724101 | Details Get a Quote |
| TP53TG3F Knockout HEK293 Cell Line | EDJ-KQ15893 | Human | 102724127 | Details Get a Quote |
| TP53TG3D Knockout A-549 Cell Line | EDJ-KQ49114 | Human | 729264 | Details Get a Quote |
| TP53TG3 Knockout HEK293 Cell Line | EDJ-KQ51133 | Human | 24150 | Details Get a Quote |
| TP53TG3 Knockout HeLa Cell Line | EDJ-KQ55809 | Human | 24150 | Details Get a Quote |
| TP53TG3C Knockout HeLa Cell Line | EDJ-KQ60652 | Human | 653550 | Details Get a Quote |
| TP53TG3D Knockout HeLa Cell Line | EDJ-KQ60742 | Human | 729264 | Details Get a Quote |
| TP53TG3B Knockout HeLa Cell Line | EDJ-KQ60745 | Human | 729355 | Details Get a Quote |
| TP53TG3 Knockout A-549 Cell Line | EDJ-KQ64304 | Human | 24150 | Details Get a Quote |
| TP53TG3C Knockout A-549 Cell Line | EDJ-KQ69125 | Human | 653550 | Details Get a Quote |
| TP53TG3B Knockout A-549 Cell Line | EDJ-KQ69214 | Human | 729355 | Details Get a Quote |
| TP53TG3 Knockout HCT 116 Cell Line | EDJ-KQ72755 | Human | 24150 | Details Get a Quote |