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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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POLDIP2
DNA polymerase delta interacting protein 2
Chromosome 17 · 17q11.2
NCBI Gene: 26073Ensembl: ENSG00000004142.12HGNC: HGNC:23781UniProt: B4DEM9
117PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
DNA Repair
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
nucleusmitochondrial nucleoidmitochondrionmitochondrial matrixneurodegenerative diseaseneoplasmnon-small cell lung carcinomabreast cancer
✦AI Summary

POLDIP2 is a multifunctional adaptor protein with dual roles in DNA damage tolerance and oxidative stress regulation. As a primary function, POLDIP2 regulates translesion synthesis (TLS) by stimulating DNA polymerases involved in bypassing DNA lesions, particularly PRIMPOL and polymerase delta (POLD1) 1. POLDIP2 enhances PrimPol's polymerase activity and processivity while promoting error-free bypass of 8-oxoG lesions 2. Mechanistically, POLDIP2 possesses a compact two-domain structure with DUF525 and YccV domains, featuring a central channel and dynamic N-terminal region that facilitates interactions with multiple binding partners 3. Beyond DNA repair, POLDIP2 functions as a regulator of oxidative stress through interaction with NADPH oxidase 4 (Nox4), acting as an upstream regulator of ROS production via PI3K-AKT signaling 4. Clinically, POLDIP2 has emerged as a significant AMD-risk gene 5, with evidence implicating it in diabetic retinopathy pathology through both oxidative stress mechanisms and TGF-β1/SMAD3-mediated retinal fibrosis 67. Additionally, POLDIP2 inhibits Tau aggregation, suggesting potential relevance to Alzheimer's disease 8. POLDIP2 also regulates mitochondrial morphology and participates in pre-mRNA processing and chromosome 17 9, positioning it as a general regulatory protein in genome stability maintenance.

Sources cited
1
POLDIP2 regulates translesion synthesis of DNA damage lesions and stimulates DNA polymerase activity
PMID: 24191025
2
POLDIP2 enhances PrimPol polymerase activity, processivity, and error-free bypass of 8-oxoG lesions
PMID: 26984527
3
POLDIP2 crystal structure reveals two-domain globular architecture with dynamic regions facilitating protein interactions
PMID: 33884680
4
POLDIP2 acts as upstream regulator of Nox4-mediated ROS production via PI3K-AKT signaling in LPS-induced inflammation
PMID: 35140544
5
POLDIP2 is AMD-associated gene with role in regulating oxidative stress in retinal pigment epithelium
PMID: 36795578
6
POLDIP2 inhibition ameliorates diabetic retinopathy through PPARγ-Nox4 pathway suppression
PMID: 36088760
7
POLDIP2 promotes retinal fibrosis in diabetic retinopathy via TGF-β1/SMAD3 signaling
PMID: 38968428
8
POLDIP2 inhibits Tau oligomer formation and amyloid fibril growth relevant to Alzheimer's disease
PMID: 34071254
9
POLDIP2 is a multifunctional protein involved in DNA translesion synthesis, mitochondrial morphology, and chromosome segregation
PMID: 32383114
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.34Weak
neoplasmOpen Targets
0.11Weak
non-small cell lung carcinomaOpen Targets
0.11Weak
breast cancerOpen Targets
0.11Weak
infectionOpen Targets
0.10Weak
cancerOpen Targets
0.10Suggestive
melanomaOpen Targets
0.09Suggestive
head and neck squamous cell carcinomaOpen Targets
0.08Suggestive
multiple myelomaOpen Targets
0.08Suggestive
Helicobacter pylori infectious diseaseOpen Targets
0.08Suggestive
esophageal cancerOpen Targets
0.08Suggestive
Gaucher diseaseOpen Targets
0.07Suggestive
gliomaOpen Targets
0.07Suggestive
pulmonary fibrosisOpen Targets
0.07Suggestive
posterior cortical atrophyOpen Targets
0.07Suggestive
Cerebral ischemiaOpen Targets
0.07Suggestive
cervical cancerOpen Targets
0.07Suggestive
Miyoshi myopathyOpen Targets
0.06Suggestive
chronic obstructive pulmonary diseaseOpen Targets
0.06Suggestive
cerebral creatine deficiency syndromeOpen Targets
0.06Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
NCF1Protein interaction100%NOX4Protein interaction100%CYBAProtein interaction99%CYBBProtein interaction99%NCF2Protein interaction99%NOXA1Protein interaction99%
Tissue Expression6 tissues
Liver
100%
Heart
74%
Brain
37%
Lung
27%
Ovary
24%
Bone Marrow
20%
Gene Interaction Network
Click a node to explore
POLDIP2NCF1NOX4CYBACYBBNCF2NOXA1
PROTEIN STRUCTURE
Preparing viewer…
PDB6Z9C · 2.80 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.06LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.73 [0.52–1.06]
RankingsWhere POLDIP2 stands among ~20K protein-coding genes
  • #4,061of 20,598
    Most Researched117 · top quartile
  • #10,732of 17,882
    Most Constrained (LOEUF)1.06
Genes detectedPOLDIP2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Capsaicin ameliorates diabetic retinopathy by inhibiting poldip2-induced oxidative stress.
PMID: 36088760
Redox Biol · 2022
1.00
2
Poldip2/Nox4 Mediates Lipopolysaccharide-Induced Oxidative Stress and Inflammation in Human Lung Epithelial Cells.
PMID: 35140544
Mediators Inflamm · 2022
0.90
3
Knockout of AMD-associated gene
PMID: 36795578
Aging (Albany NY) · 2023
0.80
4
PolDIP2 interacts with human PrimPol and enhances its DNA polymerase activities.
PMID: 26984527
Nucleic Acids Res · 2016
0.70
5
A Multifunctional Protein PolDIP2 in DNA Translesion Synthesis.
PMID: 32383114
Adv Exp Med Biol · 2020
0.60