BTG4: BTG Anti-Proliferation Factor 4
A key regulator of maternal mRNA decay and cell cycle progression
Gene Information Card
| Symbol | BTG4 |
|---|---|
| Full Name | BTG Anti-Proliferation Factor 4 |
| Gene Type | Protein coding |
| Chromosomal Location | 11q23.1 |
| NCBI Gene ID | 54766 ncbi.nlm.nih.gov/gene/54766 |
| Ensembl ID | ENSG00000149257 |
| UniProt ID | Q9NY30 |
| OMIM ID | 605673 |
| HGNC ID | 1126 |
| Aliases | PC3B, TOB5, ANA, BTG4L |
Description
BTG4 (BTG Anti-Proliferation Factor 4) is a member of the BTG/Tob family of anti-proliferative proteins. It functions as a key regulator of maternal mRNA decay in oocytes and early embryos, and is involved in cell cycle progression, differentiation, and apoptosis. BTG4 interacts with the CCR4-NOT deadenylase complex to promote deadenylation and degradation of maternal transcripts, essential for oocyte maturation and embryonic development.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Infertility (female) | BTG4 mutations impair maternal mRNA deadenylation, leading to oocyte maturation arrest and early embryonic lethality. | PMID: 28257692 |
| Endometrial cancer | BTG4 downregulation is associated with increased cell proliferation and tumor progression. | PMID: 30651542 |
| Breast cancer | Reduced BTG4 expression correlates with poor prognosis and enhanced metastatic potential. | PMID: 29367603 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Ovary | 12.5 | Medium |
| Testis | 8.3 | Medium |
| Brain | 3.1 | Low |
| Heart | 1.2 | Low |
| Liver | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 5.4 | Cervical cancer cell line |
| MCF7 | 3.8 | Breast cancer cell line |
| K562 | 2.1 | Leukemia cell line |
| HEK293 | 1.6 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, likely loss of function |
| c.325C>T (p.Arg109*) | Nonsense | Rare | Premature stop, loss of function |
| c.487_488del (p.Leu163fs) | Frameshift | Rare | Frameshift, loss of function |
Mutation functional classification
Loss of Function (LOF)
Mutations leading to truncated or absent BTG4 protein impair maternal mRNA decay, causing oocyte maturation arrest and infertility.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • nuclear-transcribed mRNA catabolic process (GO:0000289) | • protein binding (GO:0005515) |
| • nucleus (GO:0005634) | • cytoplasm (GO:0005737) |
| • negative regulation of cell population proliferation (GO:0008285) | • negative regulation of translation (GO:0017148) |
| • perinuclear region of cytoplasm (GO:0048471) |
Pathways
• CCR4-NOT complex-mediated mRNA deadenylation
• Oocyte maturation and maternal mRNA decay
Protein Summary
BTG4 is a 252-amino acid protein (UniProt Q9NY30) containing a conserved BTG domain. It localizes to the cytoplasm and nucleus, and interacts with the CCR4-NOT deadenylase complex to promote deadenylation and decay of maternal mRNAs. BTG4 is highly expressed in oocytes and plays a critical role in female fertility by ensuring timely clearance of maternal transcripts during oocyte-to-embryo transition.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BTG4 Knockout HEK293 Cell Line | EDJ-KQ12579 | Human | 54766 | Details Get a Quote |
| BTG4 Knockout HeLa Cell Line | EDJ-KQ56471 | Human | 54766 | Details Get a Quote |
| BTG4 Knockout A-549 Cell Line | EDJ-KQ64962 | Human | 54766 | Details Get a Quote |
| BTG4 Knockout HCT 116 Cell Line | EDJ-KQ73407 | Human | 54766 | Details Get a Quote |
