POLN
DNA Polymerase Nu
Gene Information Card
| Symbol | POLN |
|---|---|
| Full Name | DNA Polymerase Nu |
| Gene Type | Protein coding |
| Chromosomal Location | 4p16.3 |
| NCBI Gene ID | 353497 ncbi.nlm.nih.gov/gene/353497 |
| Ensembl ID | ENSG00000166197 |
| UniProt ID | Q7Z5Q5 |
| OMIM ID | 610122 |
| HGNC ID | 17870 |
| Aliases | POL4P, POLN1 |
Description
POLN encodes DNA polymerase nu, a member of the A-family (pol I-like) DNA polymerases. It is involved in translesion synthesis (TLS) and DNA repair, particularly in bypassing interstrand crosslinks and oxidative DNA damage. The enzyme possesses both DNA polymerase and 3'-5' exonuclease activities, contributing to genome stability. POLN is expressed at low levels in most tissues but is upregulated in certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast Cancer | POLN mutations may impair TLS, leading to genomic instability and increased mutation burden. | COSMIC, ClinVar |
| Ovarian Cancer | Overexpression of POLN is associated with resistance to platinum-based chemotherapy via enhanced DNA repair. | COSMIC, PubMed |
| Fanconi Anemia Pathway Defects | POLN interacts with FANCD2 and participates in interstrand crosslink repair; defects may contribute to FA-like phenotypes. | UniProt, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 1.2 | Low |
| Bone Marrow | 0.8 | Low |
| Lymph Node | 0.6 | Low |
| Breast | 0.5 | Low |
| Ovary | 0.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 0.9 | Low expression |
| HeLa | 0.7 | Low expression |
| MCF7 | 0.6 | Low expression |
| A549 | 0.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2152C>T (p.Arg718Trp) | Missense | <0.01% | Unknown; predicted damaging by SIFT |
| c.2870G>A (p.Arg957Gln) | Missense | <0.01% | Unknown; predicted benign |
| c.1234delA (p.Thr412fs) | Frameshift | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations are predicted to cause loss of polymerase activity, impairing TLS and DNA repair.
Gain of Function (GOF)
No gain-of-function mutations have been reported in POLN.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for POLN.
View complete mutation data：
Gene Ontology (GO)
| • DNA-directed DNA polymerase activity | • 3'-5' exonuclease activity |
| • DNA repair | • translesion synthesis |
| • nucleus | • nucleoplasm |
Pathways
• Translesion synthesis
• Fanconi anemia pathway
• DNA damage bypass
• DNA polymerase nu is a 1
• 002-amino acid protein with an N-terminal 3'-5' exonuclease domain and a C-terminal DNA polymerase domain. It localizes to the nucleus and is involved in bypassing DNA lesions during replication. The enzyme is highly conserved in vertebrates and is thought to play a backup role in TLS when other polymerases are compromised.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| POLN Knockout HEK293 Cell Line | EDJ-KQ1928 | Human | 353497 | Details Get a Quote |
| POLN Knockout A-549 Cell Line | EDJ-KQ20555 | Human | 353497 | Details Get a Quote |
| POLN Knockout HCT 116 Cell Line | EDJ-KQ21855 | Human | 353497 | Details Get a Quote |
| POLN Knockout HeLa Cell Line | EDJ-KQ59878 | Human | 353497 | Details Get a Quote |
| POLN Knockout HAP1 Cell Line | EDC08059 | Human | 353497 | Details Get a Quote |
Displaying Records 1 To 5 Of 5 Records
