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GeneE
25 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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POLH
DNA polymerase eta
Chromosome 6 · 6p21.1
NCBI Gene: 5429Ensembl: ENSG00000170734.13HGNC: HGNC:9181UniProt: B3KN75
214PubMed Papers
21Diseases
0Drugs
56Pathogenic Variants
FUNCTIONAL ROLE
DNA Repair
RESEARCH IMPACT
TrendingVariant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
translesion synthesisnucleoplasmDNA synthesis involved in DNA repairDNA-directed DNA polymerase activityxeroderma pigmentosum variant typeXeroderma pigmentosum variantxeroderma pigmentosumgenetic disorder
✦AI Summary

POLH encodes DNA polymerase eta (polη), a Y-family DNA polymerase specialized in translesion synthesis (TLS)—the ability to accurately replicate across DNA lesions that block replication forks 12. Polη is particularly important for replicating past UV-induced pyrimidine dimers and cisplatin-induced intrastrand crosslinks, inserting correct nucleotides opposite these lesions 34. Due to its low processivity, polη cooperates with the POLZ complex (containing REV3L, REV7, POLD2, and POLD3) to complete lesion bypass 5. Polη exhibits error-prone activity on undamaged DNA and may contribute to hypermutation at immunoglobulin genes, though it forms covalent complexes with abasic sites that limit mutagenesis during base excision repair 6. Clinical significance of POLH extends beyond its essential role in xeroderma pigmentosum variant (XPV), where loss-of-function mutations cause severe UV sensitivity and skin cancer predisposition 5. Germline and somatic POLH variants impair polymerase activity and cellular tolerance to UV radiation and cisplatin 4. In cancer contexts, elevated POLH expression—regulated by alternative polyadenylation producing short 3'UTR transcripts that escape microRNA repression—confers cisplatin resistance in lung and bladder cancers 7. RAD18 O-GlcNAcylation promotes polη focus formation at DNA damage sites, facilitating both TLS and homologous recombination repair 8. Additionally, G-quadruplex-induced replication stress depends on polη throughout S phase for fork restart and micronuclei prevention 9.

Sources cited
1
POLH encodes DNA polymerase eta involved in translesion synthesis, particularly important for UV-induced pyrimidine dimers
PMID: 10385124
2
DNA polymerase eta is important for repair of UV-induced pyrimidine dimers
PMID: 11743006
3
Polη inserts correct nucleotides opposite cisplatin-induced intrastrand crosslinks
PMID: 24449906
4
POLH germline and somatic variants impair polymerase activity and cellular tolerance to UV radiation and cisplatin
PMID: 40334807
5
POLH variants cause xeroderma pigmentosum variant; polη cooperates with POLZ complex for lesion bypass
PMID: 35328096
6
Polη forms covalent complexes with abasic sites, limiting mutagenesis during base excision repair
PMID: 14630940
7
Alternative polyadenylation producing short POLH transcripts confers cisplatin resistance in lung and bladder cancers
PMID: 31064846
8
RAD18 O-GlcNAcylation promotes polη focus formation at DNA damage sites
PMID: 38719812
9
Polη is required throughout S phase for G-quadruplex-induced fork restart and micronuclei prevention
PMID: 40349342
Disease Associationsⓘ21
xeroderma pigmentosum variant typeOpen Targets
0.82Strong
Xeroderma pigmentosum variantOpen Targets
0.68Moderate
xeroderma pigmentosumOpen Targets
0.50Moderate
genetic disorderOpen Targets
0.42Moderate
disease of peritoneumOpen Targets
0.15Weak
hepatocellular carcinomaOpen Targets
0.08Suggestive
breast cancerOpen Targets
0.07Suggestive
epidermodysplasia verruciformisOpen Targets
0.06Suggestive
Chronic mucocutaneous candidosisOpen Targets
0.06Suggestive
PilomatrixomaOpen Targets
0.06Suggestive
immune deficiency, familial variableOpen Targets
0.06Suggestive
immunodeficiency 86Open Targets
0.06Suggestive
head and neck squamous cell carcinomaOpen Targets
0.05Suggestive
hyper-IgM syndrome type 3Open Targets
0.05Suggestive
neoplasmOpen Targets
0.05Suggestive
cancerOpen Targets
0.05Suggestive
acute myeloid leukemiaOpen Targets
0.05Suggestive
Benign Skin Appendage NeoplasmOpen Targets
0.05Suggestive
disseminated superficial actinic porokeratosisOpen Targets
0.05Suggestive
MHC class II deficiency 5Open Targets
0.05Suggestive
Xeroderma pigmentosum variant typeUniProt
Pathogenic Variants56
NM_006502.3(POLH):c.1066C>T (p.Arg356Ter)Pathogenic
not provided|Xeroderma pigmentosum variant type
★★☆☆2025→ Residue 356
NM_006502.3(POLH):c.672_673insT (p.Leu225fs)Pathogenic
Xeroderma pigmentosum variant type|not provided
★★☆☆2025→ Residue 225
NM_006502.3(POLH):c.907C>T (p.Arg303Ter)Pathogenic
Xeroderma pigmentosum variant type|not provided|Xeroderma pigmentosum
★★☆☆2024→ Residue 303
NM_006502.3(POLH):c.1222_1225del (p.Thr408fs)Pathogenic
Xeroderma pigmentosum variant type|POLH-related disorder|not provided
★★☆☆2024→ Residue 408
NM_006502.3(POLH):c.764+1G>APathogenic
Xeroderma pigmentosum variant type|not provided
★★☆☆2024
NM_006502.3(POLH):c.499C>T (p.Arg167Ter)Pathogenic
not provided|Xeroderma pigmentosum variant type
★★☆☆2024→ Residue 167
NM_006502.3(POLH):c.490G>T (p.Glu164Ter)Pathogenic
Xeroderma pigmentosum variant type|Xeroderma pigmentosum|not provided|Hepatocellular carcinoma
★★☆☆2024→ Residue 164
NM_006502.3(POLH):c.149dup (p.Ser51fs)Pathogenic
Xeroderma pigmentosum variant type|not provided
★★☆☆2023→ Residue 51
NM_006502.3(POLH):c.571A>C (p.Thr191Pro)Likely pathogenic
Xeroderma pigmentosum variant type|not provided
★★☆☆2023→ Residue 191
NM_006502.3(POLH):c.1078dup (p.Asp360fs)Pathogenic
Xeroderma pigmentosum|not provided
★★☆☆2023→ Residue 360
NM_006502.3(POLH):c.638C>G (p.Ser213Ter)Pathogenic
Xeroderma pigmentosum variant type|See cases
★★☆☆2022→ Residue 213
NM_006502.3(POLH):c.127A>T (p.Lys43Ter)Pathogenic
not provided
★☆☆☆2026→ Residue 43
NM_006502.3(POLH):c.660+4A>TLikely pathogenic
Xeroderma pigmentosum
★☆☆☆2026
NM_006502.3(POLH):c.1202del (p.Thr401fs)Pathogenic
not provided
★☆☆☆2025→ Residue 401
NM_006502.3(POLH):c.505C>T (p.Gln169Ter)Pathogenic
Xeroderma pigmentosum variant type
★☆☆☆2025→ Residue 169
NM_006502.3(POLH):c.1727_1728del (p.Pro576fs)Likely pathogenic
Xeroderma pigmentosum variant type
★☆☆☆2024→ Residue 576
NM_006502.3(POLH):c.2130dup (p.Leu711fs)Likely pathogenic
Xeroderma pigmentosum variant type
★☆☆☆2024→ Residue 711
NM_006502.3(POLH):c.764+1G>CPathogenic
not provided
★☆☆☆2024
NM_006502.3(POLH):c.788G>T (p.Gly263Val)Likely pathogenic
Xeroderma pigmentosum variant type
★☆☆☆2024→ Residue 263
NM_006502.3(POLH):c.1117C>T (p.Gln373Ter)Pathogenic
Xeroderma pigmentosum variant type|not provided
★☆☆☆2024→ Residue 373
View on ClinVar ↗
Related Genes
UBCProtein interaction97%RPS27AProtein interaction96%LIG1Protein interaction95%POLD2Protein interaction94%MAD2L2Protein interaction94%BRCA1Protein interaction90%
Tissue Expression6 tissues
Brain
100%
Heart
81%
Lung
80%
Liver
59%
Ovary
55%
Bone Marrow
39%
Gene Interaction Network
Click a node to explore
POLHUBCRPS27ALIG1POLD2MAD2L2BRCA1
PROTEIN STRUCTURE
Preparing viewer…
PDB7M7N · 1.31 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.85LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.65 [0.51–0.85]
RankingsWhere POLH stands among ~20K protein-coding genes
  • #1,939of 20,598
    Most Researched214 · top 10%
  • #1,223of 5,498
    Most Pathogenic Variants56 · top quartile
  • #7,305of 17,882
    Most Constrained (LOEUF)0.85
Genes detectedPOLH
Sources retrieved25 papers
Response time—
📄 Sources
25▼
1
The human POLH gene is not mutated, and is expressed in a cohort of patients with basal or squamous cell carcinoma of the skin.
PMID: 17334634
Int J Mol Med · 2007
1.00
2
A PolH Transcript with a Short 3'UTR Enhances PolH Expression and Mediates Cisplatin Resistance.
PMID: 31064846
Cancer Res · 2019
0.90
3
RAD18 O-GlcNAcylation promotes translesion DNA synthesis and homologous recombination repair.
PMID: 38719812
Cell Death Dis · 2024
0.80
4
Identification of Frameshift Variants in
PMID: 35328096
Genes (Basel) · 2022
0.70
5
Diverse roles of RAD18 and Y-family DNA polymerases in tumorigenesis.
PMID: 29683380
Cell Cycle · 2018
0.64