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5 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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BCL2L2-PABPN1
BCL2L2-PABPN1 readthrough
Chromosome 14 · 14q11.2
NCBI Gene: 100529063Ensembl: ENSG00000258643.6HGNC: HGNC:42959UniProt: A0A7I2V383
11PubMed Papers
20Diseases
3Drugs
0Pathogenic Variants
CLINICAL
FDA Approved Target
DATA QUALITY
✓ Swiss-Prot Reviewed
neurodegenerative diseaseoculopharyngeal muscular dystrophy 1oculopharyngeal muscular dystrophyneoplasm
✦AI Summary

BCL2L2-PABPN1 is a read-through fusion transcript arising from cis-splicing between adjacent genes BCL2L2 and PABPN1 on chromosome 14, generated through RNA processing rather than genomic rearrangement 1. The fusion protein contains functional domains from both parents (BH4, BCL, and RRM domains) and is conserved across multiple species including humans, rats, and pigs 12. Primary functions vary by tissue context. In glioblastoma cells, BCL2L2-PABPN1 promotes tumor progression by blocking Bax activity and activating the PI3K/AKT pathway, with knockdown suppressing cell proliferation, migration, and invasion 1. In porcine adipose tissue, it promotes preadipocyte proliferation while inhibiting differentiation, operating through MAPK and PI3K-Akt pathways and miR-339-3p regulation 2. Clinical significance includes elevated expression in bladder urothelial carcinoma compared to adjacent normal tissue, suggesting potential diagnostic or biomarker utility 3. Additionally, BCL2L2-PABPN1 is associated with metabolic phenotypes including basal metabolic rate, obesity-related metabolites, and methylation alterations in mild cognitive impairment, implicating roles in metabolic dysfunction and neuroinflammation 45. The fusion transcript localizes primarily to the cell nucleus, suggesting possible long non-coding RNA function 3.

Sources cited
1
BCL2L2-PABPN1 is a read-through fusion transcript from RNA processing, encodes a fusion protein with BH4, BCL, and RRM domains, blocks Bax activity and activates PI3K/AKT pathway to promote glioblastoma progression
PMID: 35894779
2
BCL2L2-PABPN1 is a cis-SAGe product conserved across species, promotes preadipocyte proliferation and inhibits differentiation through MAPK and PI3K-Akt pathways and miR-339-3p regulation
PMID: 35327999
3
BCL2L2-PABPN1 is significantly higher in bladder urothelial carcinoma samples, generated by cis-splicing, and localizes to cell nucleus
PMID: 30818082
4
BCL2L2-PABPN1 is associated with metabolic traits including basal metabolic rate and obesity-related metabolites in Korean women
PMID: 30990731
5
BCL2L2-PABPN1 shows differential methylation associated with mild cognitive impairment in Mexican Americans, implicating metabolic dysfunction and neuroinflammation
PMID: 31640099
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.55Moderate
oculopharyngeal muscular dystrophy 1Open Targets
0.48Moderate
oculopharyngeal muscular dystrophyOpen Targets
0.44Moderate
neoplasmOpen Targets
0.41Moderate
primary myelofibrosisOpen Targets
0.33Weak
small cell lung carcinomaOpen Targets
0.28Weak
myelofibrosisOpen Targets
0.28Weak
chronic lymphocytic leukemiaOpen Targets
0.11Weak
azoospermiaOpen Targets
0.09Suggestive
glioblastoma multiformeOpen Targets
0.09Suggestive
breast cancerOpen Targets
0.09Suggestive
partial chromosome Y deletionOpen Targets
0.08Suggestive
cancerOpen Targets
0.08Suggestive
spermatogenic failure 71Open Targets
0.08Suggestive
acute myeloid leukemiaOpen Targets
0.08Suggestive
lymphomaOpen Targets
0.08Suggestive
spermatogenic failure 25Open Targets
0.08Suggestive
spermatogenic failure 57Open Targets
0.08Suggestive
spermatogenic failure 50Open Targets
0.08Suggestive
ovarian cancerOpen Targets
0.08Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Drug Targets3
NAVITOCLAXApproved
Apoptosis regulator Bcl-W inhibitor
neoplasm
OBATOCLAXPhase II
Apoptosis regulator Bcl-2 inhibitor
OBATOCLAX MESYLATEPhase III
Apoptosis regulator Bcl-2 inhibitor
small cell lung carcinoma
Related Genes
PABPN1Protein interaction99%PABPN1LProtein interaction99%
Tissue Expression6 tissues
Bone Marrow
100%
Liver
55%
Lung
35%
Ovary
33%
Brain
30%
Heart
7%
Gene Interaction Network
Click a node to explore
BCL2L2-PABPN1PABPN1PABPN1L
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt A0A7I2V383
View on AlphaFold ↗
RankingsWhere BCL2L2-PABPN1 stands among ~20K protein-coding genes
  • #16,677of 20,598
    Most Researched11
  • #1,024of 1,025
    FDA-Approved Drug Targets1
Genes detectedBCL2L2-PABPN1
Sources retrieved5 papers
Response time—
📄 Sources
5
1
Novel read-through fusion transcript Bcl2l2-Pabpn1 in glioblastoma cells.
PMID: 35894779
J Cell Mol Med · 2022
1.00
2
Characterization of a Read-through Fusion Transcript, BCL2L2-PABPN1, Involved in Porcine Adipogenesis.
PMID: 35327999
Genes (Basel) · 2022
0.80
3
The landscape of chimeric RNAs in bladder urothelial carcinoma.
PMID: 30818082
Int J Biochem Cell Biol · 2019
0.60
4
Metabolomics Associated with Genome-Wide Association Study Related to the Basal Metabolic Rate in Overweight/Obese Korean Women.
PMID: 30990731
J Med Food · 2019
0.40
5
Genome-Wide Methylation of Mild Cognitive Impairment in Mexican Americans Highlights Genes Involved in Synaptic Transport, Alzheimer's Disease-Precursor Phenotypes, and Metabolic Morbidities.
PMID: 31640099
J Alzheimers Dis · 2019
0.20