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25 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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BBC3
BCL2 binding component 3
Chromosome 19 · 19q13.32
NCBI Gene: 27113Ensembl: ENSG00000105327.19HGNC: HGNC:17868UniProt: Q96PG8
239PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Apoptosis
RESEARCH IMPACT
Trending
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
apoptotic processlysosomeATPase bindingprotein bindingneurodegenerative diseaseAbnormality of the skeletal systemneoplasmcolorectal carcinoma
✦AI Summary

BBC3 (BCL2 binding component 3), also known as PUMA (p53 upregulated modulator of apoptosis), is a proapoptotic BH3-only protein that serves as an essential mediator of both p53-dependent and p53-independent apoptosis 1. The protein functions by promoting partial unfolding of BCL2L1 and dissociation of BCL2L1 from p53, thereby releasing bound p53 to induce apoptosis. BBC3 operates through the BAX/BBC3/AKT signaling pathway and upregulates the BBC3-CASP9-CASP3 apoptotic cascade 2. The gene plays crucial roles in various pathological conditions: it contributes to trophoblast cell apoptosis and recurrent miscarriage when its chaperone-mediated autophagy degradation is impaired 3, participates in cold preservation-induced pancreatic islet injury through modulation of oxidative stress 4, and promotes pulmonary fibrosis by inducing autophagy in macrophages during silicosis 5. Clinically, BBC3 serves as a potential biomarker for breast cancer diagnosis and prognosis 1 and is dysregulated in gastric cancer where its mRNA degradation promotes cancer progression 6. BBC3 expression is also altered in idiopathic pulmonary fibrosis, suggesting its involvement in ferroptosis-related mechanisms 7.

Sources cited
1
BBC3 is a proapoptotic BH3-only protein serving as biomarker for breast cancer
PMID: 40846167
2
BBC3 operates through BAX/BBC3/AKT pathway and upregulates CASP9-CASP3 cascade
PMID: 38767753
3
BBC3 contributes to trophoblast apoptosis and miscarriage when autophagy degradation is impaired
PMID: 38836496
4
BBC3 participates in cold preservation-induced pancreatic islet injury
PMID: 27117005
5
BBC3 promotes pulmonary fibrosis by inducing autophagy in macrophages during silicosis
PMID: 28277537
6
BBC3 mRNA degradation promotes gastric cancer progression
PMID: 40613240
7
BBC3 expression is altered in idiopathic pulmonary fibrosis
PMID: 40022042
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.55Moderate
Abnormality of the skeletal systemOpen Targets
0.45Moderate
neoplasmOpen Targets
0.11Weak
colorectal carcinomaOpen Targets
0.09Suggestive
infectionOpen Targets
0.08Suggestive
chronic lymphocytic leukemiaOpen Targets
0.08Suggestive
nonpapillary renal cell carcinomaOpen Targets
0.08Suggestive
non-small cell lung carcinomaOpen Targets
0.08Suggestive
posterior cortical atrophyOpen Targets
0.07Suggestive
Hepatic fibrosisOpen Targets
0.07Suggestive
renal cell carcinomaOpen Targets
0.07Suggestive
gastric cancerOpen Targets
0.07Suggestive
lung cancerOpen Targets
0.07Suggestive
gastritisOpen Targets
0.07Suggestive
colorectal cancerOpen Targets
0.06Suggestive
ovarian cancerOpen Targets
0.06Suggestive
hereditary persistence of fetal hemoglobin-sickle cell disease syndromeOpen Targets
0.06Suggestive
Hereditary persistence of fetal hemoglobin - beta-thalassemiaOpen Targets
0.06Suggestive
acute myeloid leukemiaOpen Targets
0.06Suggestive
lumbar disc degenerationOpen Targets
0.06Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CDKN1AProtein interaction100%FOXO3Protein interaction100%E2F1Protein interaction99%TP73Protein interaction96%FOXO1Protein interaction89%BAK1Protein interaction81%
Tissue Expression6 tissues
Lung
100%
Liver
50%
Ovary
30%
Brain
29%
Bone Marrow
26%
Heart
17%
Gene Interaction Network
Click a node to explore
BBC3CDKN1AFOXO3E2F1TP73FOXO1BAK1
PROTEIN STRUCTURE
Preparing viewer…
PDB5UUL · 1.33 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.29LoF Tolerant
pLIⓘ
0.05Tolerant
Observed/Expected LoF0.62 [0.32–1.29]
RankingsWhere BBC3 stands among ~20K protein-coding genes
  • #1,642of 20,598
    Most Researched239 · top 10%
  • #13,612of 17,882
    Most Constrained (LOEUF)1.29
Genes detectedBBC3
Sources retrieved25 papers
Response time—
📄 Sources
25▼
1
The novel
PMID: 38836496
Autophagy · 2024
1.00
2
Involvement of a proapoptotic gene (BBC3) in islet injury mediated by cold preservation and rewarming.
PMID: 27117005
Am J Physiol Endocrinol Metab · 2016
0.90
3
Structural insights into preinitiation complex assembly on core promoters.
PMID: 33795473
Science · 2021
0.80
4
p16INK4A sensitizes human leukemia cells to FAS- and glucocorticoid-induced apoptosis via induction of BBC3/Puma and repression of MCL1 and BCL2.
PMID: 19737931
J Biol Chem · 2009
0.80
5
Dermaseptin B2 bioactive gene's potential for anticancer and anti-proliferative effect is linked to the regulation of the BAX/BBC3/AKT pathway.
PMID: 38767753
Med Oncol · 2024
0.70