BTG3: B-Cell Translocation Gene 3, a Tumor Suppressor and Cell Cycle Regulator
Comprehensive genomic and functional analysis of BTG3, a member of the BTG/Tob family involved in cell proliferation, differentiation, and cancer suppression.
Gene Information Card
| Symbol | BTG3 |
|---|---|
| Full Name | BTG anti-proliferation factor 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 21q21.1 |
| NCBI Gene ID | 10950 ncbi.nlm.nih.gov/gene/10950 |
| Ensembl ID | ENSG00000154734 |
| UniProt ID | Q9Y4K3 |
| OMIM ID | 605673 |
| HGNC ID | 1131 |
| Aliases | ANA, TOB5, TOB55, TOB-5, TOB55a, TOB55b |
Description
BTG3 (BTG anti-proliferation factor 3) is a member of the BTG/Tob family of anti-proliferative proteins. It functions as a tumor suppressor by regulating cell cycle progression, transcription, and mRNA stability. BTG3 is involved in the negative regulation of cell proliferation and is frequently downregulated in various cancers. The gene is located on chromosome 21q21.1 and encodes a protein that interacts with transcription factors and RNA-binding proteins to modulate gene expression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Non-small cell lung cancer | BTG3 downregulation leads to increased cell proliferation and tumor growth; acts as a tumor suppressor via cell cycle arrest. | PMID: 23429703 |
| Breast cancer | Loss of BTG3 expression correlates with poor prognosis; promotes metastasis through EMT regulation. | PMID: 25636874 |
| Prostate cancer | BTG3 methylation and silencing contribute to tumor progression; re-expression inhibits cell growth. | PMID: 20628032 |
| Colorectal cancer | BTG3 is frequently downregulated; suppresses Wnt/β-catenin signaling. | PMID: 27121310 |
| Hepatocellular carcinoma | BTG3 inhibits cell proliferation and induces apoptosis; reduced expression associated with aggressive tumors. | PMID: 24820476 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.3 | Medium |
| Lung | 6.1 | Low |
| Liver | 4.7 | Low |
| Kidney | 5.9 | Low |
| Heart | 3.2 | Low |
| Spleen | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | High expression in embryonic kidney cells |
| HeLa | 8.9 | Moderate expression in cervical cancer cells |
| A549 | 4.3 | Low expression in lung cancer cells |
| MCF7 | 6.7 | Moderate expression in breast cancer cells |
| HepG2 | 3.5 | Low expression in liver cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.1% | Likely loss of start codon; predicted loss of function |
| c.214C>T (p.Arg72Trp) | Missense | <0.1% | Rare variant; functional impact unknown |
| c.457G>A (p.Gly153Ser) | Missense | <0.1% | Reported in COSMIC; potential loss of function |
| c.625_626insA | Frameshift | <0.1% | Frameshift leading to premature stop; loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations (e.g., c.625_626insA) are predicted to cause loss of function by truncating the protein. Missense variants at conserved residues may also impair anti-proliferative activity.
Gain of Function (GOF)
No gain-of-function mutations have been reported for BTG3 in the literature or curated databases.
Dominant Negative (DN)
No dominant-negative mutations have been described for BTG3.
View complete mutation data：
Gene Ontology (GO)
| • negative regulation of cell cycle | • negative regulation of cell proliferation |
| • regulation of transcription | • DNA-templated |
| • protein binding | • mRNA stability regulation |
| • cytoplasm | • nucleus |
Pathways
• p53 signaling pathway
• Cell cycle
• TGF-beta signaling pathway
• mRNA surveillance pathway
Protein Summary
BTG3 encodes a 252-amino acid protein belonging to the BTG/Tob family. The protein contains a conserved N-terminal BTG domain that mediates interactions with transcription factors (e.g., E2F1) and RNA-binding proteins (e.g., CNOT7). BTG3 inhibits cell cycle progression at the G1/S transition by repressing cyclin D1 and CDK4 expression. It also promotes mRNA deadenylation and decay through association with the CCR4-NOT complex. BTG3 is predominantly nuclear but can shuttle to the cytoplasm. Its expression is regulated by p53, and loss of BTG3 is associated with tumorigenesis in multiple cancer types.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BTG3 Knockout HEK293 Cell Line | EDJ-KQ2535 | Human | 10950 | Details Get a Quote |
| BTG3 Knockout A-549 Cell Line | EDJ-KQ23166 | Human | 10950 | Details Get a Quote |
| BTG3 Knockout HCT 116 Cell Line | EDJ-KQ23167 | Human | 10950 | Details Get a Quote |
| BTG3 Knockout HeLa Cell Line | EDJ-KQ23168 | Human | 10950 | Details Get a Quote |
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