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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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BTG4
BTG anti-proliferation factor 4
Chromosome 11 Β· 11q23.1
NCBI Gene: 54766Ensembl: ENSG00000137707.14HGNC: HGNC:13862UniProt: A0A8I5KVE8
14PubMed Papers
21Diseases
0Drugs
5Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingnucleuscytoplasmregulation of cell cycleoocyte maturation defect 8Female infertility due to fertilization defectoocyte maturation defect 14oocyte maturation defect 5
✦AI Summary

BTG4 (BTG anti-proliferation factor 4) is an adapter protein that plays essential roles in maternal mRNA regulation during early embryonic development and cell cycle control. The protein bridges CNOT7, a catalytic subunit of the CCR4-NOT complex, to facilitate maternal mRNA decay during oocyte maturation and the maternal-zygotic transition (MZT) 1. BTG4 is critical for zygotic cleavage and initiation of embryonic development, with homozygous mutations causing zygotic cleavage failure and female infertility through disrupted maternal mRNA decay processes 1. The gene functions as a p53 target, with p53 binding sites in its first intron leading to transcriptional upregulation upon p53 activation 2. BTG4 exhibits tumor suppressor properties, inhibiting cell growth and inducing apoptosis in cancer cells 2. The gene undergoes promoter hypermethylation-associated silencing in gastric cancer, and its expression is dysregulated across various gynecological cancers 3 4. Clinically, BTG4 mutations are associated with oocyte/zygote/embryo maturation arrest, representing a Mendelian cause of female infertility with recessive inheritance patterns 1 5. The protein's role in maternal mRNA storage and clearance makes it essential for successful human reproduction 6.

Sources cited
1
BTG4 bridges CNOT7 to facilitate maternal mRNA decay and is required for zygotic cleavage; homozygous mutations cause female infertility
PMID: 32502391
2
BTG4 is a p53 target gene that inhibits cell growth and induces apoptosis in cancer cells
PMID: 32093041
3
BTG4 undergoes promoter hypermethylation-associated silencing in gastric cancer
PMID: 19576178
4
BTG4 expression is dysregulated across gynecological cancers and serves as a prognostic marker
PMID: 36880525
5
BTG4 is among genes causing oocyte maturation arrest with Mendelian inheritance patterns
PMID: 33895934
6
BTG4 is involved in maternal mRNA clearance during human maternal-zygotic transition
PMID: 33004802
Disease Associationsβ“˜21
oocyte maturation defect 8Open Targets
0.64Moderate
Female infertility due to fertilization defectOpen Targets
0.08Suggestive
oocyte maturation defect 14Open Targets
0.07Suggestive
oocyte maturation defect 5Open Targets
0.07Suggestive
female infertility due to oocyte meiotic arrestOpen Targets
0.07Suggestive
premature ovarian failure 19Open Targets
0.07Suggestive
oocyte maturation defect 13Open Targets
0.07Suggestive
oocyte/zygote/embryo maturation arrest 21Open Targets
0.07Suggestive
oocyte maturation defect 9Open Targets
0.07Suggestive
oocyte maturation defect 12Open Targets
0.06Suggestive
Hydatidiform MoleOpen Targets
0.06Suggestive
female infertility due to zona pellucida defectOpen Targets
0.06Suggestive
oocyte maturation defect 11Open Targets
0.06Suggestive
oocyte maturation defect 3Open Targets
0.06Suggestive
oocyte maturation defect 6Open Targets
0.06Suggestive
oocyte maturation defect 7Open Targets
0.06Suggestive
oocyte/zygote/embryo maturation arrest 18Open Targets
0.06Suggestive
oocyte/zygote/embryo maturation arrest 19Open Targets
0.06Suggestive
Rare genetic female infertilityOpen Targets
0.06Suggestive
oocyte/zygote/embryo maturation arrest 17Open Targets
0.06Suggestive
Oocyte/zygote/embryo maturation arrest 8UniProt
Pathogenic Variants5
NM_001367975.1(BTG4):c.166G>A (p.Ala56Thr)Likely pathogenic
Oocyte maturation defect 8
β˜…β˜†β˜†β˜†2021β†’ Residue 56
NM_001367975.1(BTG4):c.73C>T (p.Gln25Ter)Likely pathogenic
Oocyte maturation defect 8
β˜…β˜†β˜†β˜†2021β†’ Residue 25
NM_001367975.1(BTG4):c.1A>G (p.Met1Val)Pathogenic
Oocyte maturation defect 8
β˜†β˜†β˜†β˜†2023β†’ Residue 1
NM_001367975.1(BTG4):c.475_478del (p.Ile159fs)Pathogenic
Oocyte maturation defect 8
β˜†β˜†β˜†β˜†2023β†’ Residue 159
NM_001367975.1(BTG4):c.285G>C (p.Trp95Cys)Pathogenic
Oocyte maturation defect 8
β˜†β˜†β˜†β˜†2023β†’ Residue 95
View on ClinVar β†—
Related Genes
CNOT7Protein interaction92%CNOT8Protein interaction90%CDKN3Shared pathway40%ZBTB49Shared pathway40%TBRG1Shared pathway40%NUPR2Shared pathway33%
Tissue Expression6 tissues
Lung
100%
Bone Marrow
50%
Heart
0%
Brain
0%
Ovary
0%
Liver
0%
Gene Interaction Network
Click a node to explore
BTG4CNOT7CNOT8CDKN3ZBTB49TBRG1NUPR2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q9NY30
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.07LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.67 [0.44–1.07]
RankingsWhere BTG4 stands among ~20K protein-coding genes
  • #15,801of 20,598
    Most Researched14
  • #3,645of 5,498
    Most Pathogenic Variants5
  • #10,847of 17,882
    Most Constrained (LOEUF)1.07
Genes detectedBTG4
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Genetic factors as potential molecular markers of human oocyte and embryo quality.
PMID: 33895934
J Assist Reprod Genet Β· 2021
1.00
2
BTG4 is A Novel p53 Target Gene That Inhibits Cell Growth and Induces Apoptosis.
PMID: 32093041
Genes (Basel) Β· 2020
0.90
3
Dynamics and clinical relevance of maternal mRNA clearance during the oocyte-to-embryo transition in humans.
PMID: 33004802
Nat Commun Β· 2020
0.80
4
Frequent promoter hypermethylation and transcriptional downregulation of BTG4 gene in gastric cancer.
PMID: 19576178
Biochem Biophys Res Commun Β· 2009
0.70
5
LSM14B is essential for oocyte meiotic maturation by regulating maternal mRNA storage and clearance.
PMID: 37889087
Nucleic Acids Res Β· 2023
0.60