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GeneE
25 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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POLB
DNA polymerase beta
Chromosome 8 · 8p11.21
NCBI Gene: 5423Ensembl: ENSG00000070501.13HGNC: HGNC:9174UniProt: B7Z1W5
276PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
DNA Repair
RESEARCH IMPACT
Trending
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
nucleotide-excision repair, DNA gap fillingDNA-directed DNA polymerase activityprotein bindingmicrotubule bindingneurodegenerative diseaseLoss of consciousnessosteoarthritisneoplasm
✦AI Summary

DNA polymerase beta (POLB) is a repair polymerase essential for base-excision repair (BER), a critical DNA damage response pathway. POLB functions by removing 5'-deoxyribose-phosphate from abasic sites through its 5'-dRP lyase activity and catalyzes single-nucleotide gap-filling through its polymerase activity in a distributive rather than processive manner 12. Beyond nuclear BER, POLB localizes to mitochondria and maintains mitochondrial DNA integrity through mitochondrial BER 3. Clinically, POLB mutations are highly prevalent in human tumors. Colorectal cancers harbor POLB coding mutations in 40% of cases, with many variants reducing enzyme activity and compromising BER function, thereby promoting genomic instability 4. Promoter polymorphisms in POLB affect transcriptional regulation, with some mutations associated with thymic hyperplasia in Chinese populations 5. A gastric cancer-associated T889C POLB mutation correlates with increased progesterone receptor expression and intraperitoneal metastasis 6. Therapeutically, POLB emerges as a synthetic lethal partner with PARP inhibitors (PARPis) specifically in BRCA-mutated cancers 7. POLB knockout combined with PARPi treatment enhanced tumor regression in xenograft models, suggesting POLB as a promising target for improving PARPi efficacy in homologous recombination-deficient malignancies. BER/SSBR proteins including POLB also mediate resistance to PARG inhibitors through replication-associated mechanisms 8.

Sources cited
1
POLB plays key role in base-excision repair through 5'-dRP lyase and polymerase activities
PMID: 10556592
2
POLB removes 5'-deoxyribose-phosphate from abasic sites and fills single-nucleotide gaps
PMID: 9572863
3
POLB localizes to mitochondria and plays role in mitochondrial base excision repair
PMID: 29129598
4
POLB mutations present in 40% of colorectal tumors with many showing reduced enzyme activity and compromised BER
PMID: 22577134
5
POLB promoter polymorphisms affect transcriptional activity and some are associated with thymic hyperplasia
PMID: 35128818
6
T889C POLB mutation associated with progesterone receptor upregulation and intraperitoneal metastasis in gastric cancer
PMID: 27471563
7
POLB knockout synergizes with PARP inhibitors in BRCA-mutated cancers through enhanced DNA break accumulation
PMID: 40326293
8
POLB-containing BER/SSBR complex mediates resistance to PARG inhibitors through replication-associated mechanisms
PMID: 41480640
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.35Weak
Loss of consciousnessOpen Targets
0.27Weak
osteoarthritisOpen Targets
0.25Weak
neoplasmOpen Targets
0.10Weak
gastric cancerOpen Targets
0.09Suggestive
systemic lupus erythematosusOpen Targets
0.08Suggestive
hepatocellular carcinomaOpen Targets
0.08Suggestive
Alzheimer diseaseOpen Targets
0.08Suggestive
rheumatoid arthritisOpen Targets
0.08Suggestive
stomach neoplasmOpen Targets
0.08Suggestive
oral squamous cell carcinomaOpen Targets
0.08Suggestive
breast ductal carcinoma in situOpen Targets
0.07Suggestive
HIV infectionOpen Targets
0.07Suggestive
autoimmune diseaseOpen Targets
0.06Suggestive
autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiencyOpen Targets
0.05Suggestive
head and neck squamous cell carcinomaOpen Targets
0.05Suggestive
Severe combined immunodeficiency due to adenosine deaminase deficiencyOpen Targets
0.05Suggestive
immunoglobulin G4-related sclerosing diseaseOpen Targets
0.05Suggestive
immunodeficiency 64Open Targets
0.05Suggestive
autosomal systemic lupus erythematosus type 16Open Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PARP1Protein interaction100%APEX1Protein interaction100%FEN1Protein interaction100%NTHL1Protein interaction100%OGG1Protein interaction100%PARGProtein interaction98%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
60%
Liver
43%
Heart
43%
Ovary
33%
Lung
27%
Gene Interaction Network
Click a node to explore
POLBPARP1APEX1FEN1NTHL1OGG1PARG
PROTEIN STRUCTURE
Preparing viewer…
PDB8VFG · 1.54 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.77LoF Tolerant
pLIⓘ
0.03Tolerant
Observed/Expected LoF0.89 [0.43–1.77]
RankingsWhere POLB stands among ~20K protein-coding genes
  • #1,322of 20,598
    Most Researched276 · top 10%
  • #16,436of 17,882
    Most Constrained (LOEUF)1.77
Genes detectedPOLB
Sources retrieved25 papers
Response time—
📄 Sources
25▼
1
Polymorphic mutations in the polb gene promoter and their impact on transcriptional activity.
PMID: 35128818
Thorac Cancer · 2022
1.00
2
CRISPR Screens Identify POLB as a Synthetic Lethal Enhancer of PARP Inhibition Exclusively in BRCA-Mutated Tumors.
PMID: 40326293
Mol Cancer Ther · 2025
0.90
3
SNP-Associated Substitutions of Amino Acid Residues in the dNTP Selection Subdomain Decrease Polβ Polymerase Activity.
PMID: 38785954
Biomolecules · 2024
0.84
4
Molecular cloning, sequence and expression of Aa-polB, a mitochondrial gene encoding a family B DNA polymerase from the edible basidiomycete Agrocybe aegerita.
PMID: 10323231
Mol Gen Genet · 1999
0.80
5
Human POLB gene is mutated in high percentage of colorectal tumors.
PMID: 22577134
J Biol Chem · 2012
0.70