HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
POLQ
DNA polymerase theta
Chromosome 3 · 3q13.33
NCBI Gene: 10721Ensembl: ENSG00000051341.16HGNC: HGNC:9186UniProt: O75417
93PubMed Papers
21Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
DNA Repair
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
DNA damage responsereplication fork processingerror-prone translesion synthesisDNA helicase activitymelanomanon-small cell lung carcinomalung adenocarcinomacolorectal adenocarcinoma
✦AI Summary

POLQ encodes DNA polymerase theta, a low-fidelity polymerase with intrinsic helicase activity that mediates microhomology-mediated end-joining (MMEJ), an error-prone alternative pathway for double-strand break (DSB) repair 1. POLQ functions by binding resected DSB ends and facilitating base pairing of microhomologous sequences (2-6 bp) in overhangs, then extending strands using the opposing overhang as template 1. The polymerase's helicase activity promotes RPA complex dissociation from resected breaks, enabling annealing and subsequent joining while simultaneously preventing RAD51 accumulation and inhibiting homologous recombination 2. POLQ also seals post-replicative ssDNA gaps through microhomology-mediated gap skipping, generating deletions characteristic of POLQ-overexpressing cancers 2. Although error-prone and genomically destabilizing, MMEJ repairs persistent DSBs originating in S-phase during mitosis when canonical NHEJ and HR are less active 3. POLQ exhibits synthetic lethality with HR-deficiency (BRCA1/2 mutations), making it a therapeutic target in HR-deficient cancers including ovarian, pancreatic, and prostate adenocarcinomas 14. POLQ inhibition activates cGAS-STING immune signaling in HR-deficient tumors, enhancing CD8+ T-cell infiltration 4. POLQ-mediated MMEJ also mediates reversion mutations that drive acquired PARP inhibitor resistance, with 60% of frameshift-mediated reversions displaying microhomology flanks 5.

Sources cited
1
POLQ mediates MMEJ repair of DSBs and shows synthetic lethality with HR-deficiency through RAD51 inhibition
PMID: 25642963
2
POLQ helicase and polymerase activities cooperate to displace RPA and fill ssDNA gaps; enables microhomology-mediated gap skipping
PMID: 36455556
3
MMEJ via POLQ repairs persistent DSBs originating in S-phase during mitosis when other pathways are restricted
PMID: 37440612
4
POLQ inhibition in HR-deficient PDAC activates cGAS-STING signaling and enhances CD8+ T-cell infiltration
PMID: 36976649
5
POLQ-mediated MMEJ generates microhomology-flanked reversion mutations driving PARP inhibitor resistance in prostate cancer
PMID: 39577422
Disease Associationsⓘ21
melanomaOpen Targets
0.42Moderate
non-small cell lung carcinomaOpen Targets
0.38Weak
lung adenocarcinomaOpen Targets
0.38Weak
colorectal adenocarcinomaOpen Targets
0.37Weak
bile duct carcinomaOpen Targets
0.37Weak
breast ductal adenocarcinomaOpen Targets
0.37Weak
carcinoma of liver and intrahepatic biliary tractOpen Targets
0.37Weak
colon adenocarcinomaOpen Targets
0.37Weak
cutaneous melanomaOpen Targets
0.37Weak
Endometrial Endometrioid AdenocarcinomaOpen Targets
0.37Weak
gastric carcinomaOpen Targets
0.37Weak
Hepatobiliary NeoplasmOpen Targets
0.37Weak
Merkel cell skin cancerOpen Targets
0.37Weak
Ovarian Endometrioid Adenocarcinoma with Squamous DifferentiationOpen Targets
0.37Weak
skin basal cell carcinomaOpen Targets
0.37Weak
skin squamous cell carcinomaOpen Targets
0.37Weak
superficial spreading melanomaOpen Targets
0.37Weak
squamous cell lung carcinomaOpen Targets
0.31Weak
neoplasmOpen Targets
0.30Weak
hepatocellular carcinomaOpen Targets
0.30Weak
Breast cancerUniProt
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PARP1Protein interaction100%POLEProtein interaction91%POLD1Protein interaction90%MRE11Protein interaction90%POLGProtein interaction89%XRCC1Protein interaction87%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
8%
Heart
3%
Lung
3%
Liver
1%
Ovary
1%
Gene Interaction Network
Click a node to explore
POLQPARP1POLEPOLD1MRE11POLGXRCC1
PROTEIN STRUCTURE
Preparing viewer…
PDB7ZUS · 2.26 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.03LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.90 [0.79–1.03]
RankingsWhere POLQ stands among ~20K protein-coding genes
  • #5,160of 20,598
    Most Researched93
  • #10,115of 17,882
    Most Constrained (LOEUF)1.03
Genes detectedPOLQ
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Homologous-recombination-deficient tumours are dependent on Polθ-mediated repair.
PMID: 25642963
Nature · 2015
1.00
2
RHINO directs MMEJ to repair DNA breaks in mitosis.
PMID: 37440612
Science · 2023
0.90
3
Synthetic lethality of mRNA quality control complexes in cancer.
PMID: 39910291
Nature · 2025
0.80
4
POLQ seals post-replicative ssDNA gaps to maintain genome stability in BRCA-deficient cancer cells.
PMID: 36455556
Mol Cell · 2022
0.70
5
PARP inhibitors in ovarian cancer: Mechanisms of resistance and implications to therapy.
PMID: 40203475
DNA Repair (Amst) · 2025
0.60