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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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BOLL
boule RNA binding protein
Chromosome 2 · 2q33.1
NCBI Gene: 66037Ensembl: ENSG00000152430.20HGNC: HGNC:14273UniProt: Q8N9W6
36PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
meiotic cell cycleprotein bindingtranslation activator activityidentical protein bindingAbnormality of the skeletal systemobesityrespiratory system diseasesarcoidosis
✦AI Summary

BOLL (boule RNA-binding protein) is a germ cell-specific RNA-binding protein that functions as a critical regulator of meiotic progression and gamete development. Mechanistically, BOLL executes translational control by forming protein aggregates during meiotic prophase that directly enhance translation efficiency of cell cycle regulators 1, binding to mRNA 3'-UTRs to mediate post-transcriptional gene expression when transcription is silenced during meiosis 2. In male germ cells, BOLL promotes meiosis and haploid gamete development beyond primordial germ cell stages 3, with expression marked by BOLL-positive spermatocytes during in vitro spermatogenesis 4. In females, BOLL similarly orchestrates oogenic progression through translational reprogramming of cell cycle genes 1. Disease relevance is significant: mutations reducing BOLL expression associate with azoospermia in infertile men 5, and hypermethylation of the BOLL promoter impairs spermatid differentiation in men with hypospermatogenesis 6. Additionally, BOLL dysregulation promotes gastric cancer growth and metastasis through mitochondrial metabolic reprogramming 7. Clinically, BOLL variants represent potential diagnostic screening tools for male infertility management 5, while understanding BOLL regulation may advance in vitro gamete generation for reproductive medicine.

Sources cited
1
BOLL forms protein aggregates during meiotic prophase to drive translational reprogramming and enhance translation efficiency of cell cycle regulators
PMID: 41742712
2
BOLL is a key RNA-binding protein regulating translational control during oogenesis when transcription is silenced
PMID: 28434825
3
BOLL promotes later stages of meiosis and development of haploid gametes in human germ cell development
PMID: 19865085
4
BOLL-positive spermatocytes are induced during organotypic culture of testicular tissue, marking meiotic initiation
PMID: 35887314
5
BOLL gene mutations reduce expression and associate with azoospermia risk in infertile men
PMID: 37957469
6
BOLL promoter hypermethylation in hypospermatogenesis reduces gene expression and impairs spermatid differentiation
PMID: 41793517
7
BOLL regulates mitochondrial metabolic reprogramming and promotes gastric cancer growth and metastasis
PMID: 37953520
Disease Associationsⓘ20
Abnormality of the skeletal systemOpen Targets
0.28Weak
obesityOpen Targets
0.23Weak
respiratory system diseaseOpen Targets
0.17Weak
sarcoidosisOpen Targets
0.15Weak
rheumatoid arthritisOpen Targets
0.15Weak
smoking initiationOpen Targets
0.14Weak
systemic lupus erythematosusOpen Targets
0.13Weak
type 2 diabetes mellitusOpen Targets
0.12Weak
COVID-19Open Targets
0.12Weak
major depressive disorderOpen Targets
0.12Weak
circadian rhythmOpen Targets
0.12Weak
diabetes mellitusOpen Targets
0.12Weak
atrial fibrillationOpen Targets
0.11Weak
Crohn's diseaseOpen Targets
0.11Weak
IrritabilityOpen Targets
0.11Weak
rhinitisOpen Targets
0.11Weak
anorexia nervosaOpen Targets
0.10Weak
attention deficit hyperactivity disorderOpen Targets
0.10Weak
Tourette syndromeOpen Targets
0.10Weak
atopic asthmaOpen Targets
0.10Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PUM2Protein interaction91%DAZAP2Protein interaction84%UBA5Protein interaction82%DDX4Protein interaction79%CDC25AProtein interaction79%CDC20BProtein interaction78%
Tissue Expression6 tissues
Ovary
100%
Lung
88%
Liver
88%
Brain
38%
Heart
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
BOLLPUM2DAZAP2UBA5DDX4CDC25ACDC20B
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q8N9W6
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.81LoF Tolerant
pLIⓘ
0.31Tolerant
Observed/Expected LoF0.41 [0.22–0.81]
RankingsWhere BOLL stands among ~20K protein-coding genes
  • #10,740of 20,598
    Most Researched36
  • #6,802of 17,882
    Most Constrained (LOEUF)0.81
Genes detectedBOLL
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Oxytocin and Pain Perception: From Animal Models to Human Research.
PMID: 28965836
Neuroscience · 2018
1.00
2
RNA-binding proteins in human oogenesis: Balancing differentiation and self-renewal in the female fetal germline.
PMID: 28434825
Stem Cell Res · 2017
0.90
3
Molecular Mechanism of Circ_0088300-BOLL Interaction Regulating Mitochondrial Metabolic Reprogramming and Involved in Gastric Cancer Growth and Metastasis.
PMID: 37953520
J Proteome Res · 2023
0.80
4
Human DAZL, DAZ and BOULE genes modulate primordial germ-cell and haploid gamete formation.
PMID: 19865085
Nature · 2009
0.70
5
Prediction and surprise in human fear conditioning (commentary on Boll et al.).
PMID: 23451877
Eur J Neurosci · 2013
0.60