NEIL2: A Key DNA Glycosylase in Base Excision Repair
Comprehensive gene card for NEIL2 (Nei Like DNA Glycosylase 2), including genomic context, expression, mutations, and clinical significance.
Gene Information Card
| Symbol | NEIL2 |
|---|---|
| Full Name | Nei Like DNA Glycosylase 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 8p23.1 |
| NCBI Gene ID | 252969 ncbi.nlm.nih.gov/gene/252969 |
| Ensembl ID | ENSG00000154328 |
| UniProt ID | Q8IY48 |
| OMIM ID | 608933 |
| HGNC ID | 17616 |
| Aliases | NEI2, FLJ22402, hNEI2 |
Description
NEIL2 encodes a DNA glycosylase involved in the base excision repair (BER) pathway, specifically recognizing and excising oxidative lesions such as 5-hydroxyuracil and thymine glycol from DNA. The enzyme acts on single-stranded and bubble DNA substrates, playing a critical role in maintaining genomic stability.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Lung Cancer | NEIL2 polymorphisms may reduce repair capacity, increasing susceptibility to oxidative DNA damage in lung tissue. | PMID: 19088103; ClinVar |
| Gastric Cancer | Reduced NEIL2 expression correlates with increased mutation burden and tumor progression. | PMID: 21573163; COSMIC |
| Neurodegenerative Disorders | Impaired NEIL2 function leads to accumulation of oxidative DNA damage in neurons, potentially contributing to Alzheimer's and Parkinson's disease. | PMID: 23086930; OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 8.2 | Medium |
| Lung | 5.1 | Low |
| Brain | 3.8 | Low |
| Liver | 2.9 | Low |
| Kidney | 4.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (Lung carcinoma) | 6.3 | Moderate expression |
| HEK293 (Embryonic kidney) | 4.1 | Low expression |
| HeLa (Cervical carcinoma) | 5.7 | Moderate expression |
| MCF7 (Breast carcinoma) | 3.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.257C>T (p.Pro86Leu) | Missense | 0.001% (gnomAD) | Reduced glycosylase activity in vitro |
| c.458G>A (p.Arg153Gln) | Missense | 0.002% (gnomAD) | Altered substrate specificity |
| c.1-79C>T | 5' UTR | 0.01% (ClinVar) | Potential impact on expression |
Mutation functional classification
Loss of Function (LOF)
p.Pro86Leu and p.Arg153Gln reduce or abolish enzymatic activity, impairing BER.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations described.
View complete mutation data：
Gene Ontology (GO)
| • DNA glycosylase activity (GO:0019104) | • base-excision repair (GO:0006284) |
| • damaged DNA binding (GO:0003684) | • nucleus (GO:0005634) |
| • response to oxidative stress (GO:0006979) |
Pathways
• Base Excision Repair (BER) - Reactome R-HSA-73929
• Oxidative Stress Induced Senescence - WikiPathways WP3879
Protein Summary
NEIL2 is a 36.6 kDa protein (332 amino acids) belonging to the Nei family of DNA glycosylases. It contains a helix-hairpin-helix (HhH) motif and a conserved proline-rich region. The enzyme excises oxidized pyrimidines and formamidopyrimidines from DNA, with a preference for lesions in single-stranded or bubble structures. NEIL2 interacts with other BER components such as APE1 and PCNA, facilitating efficient repair.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NEIL2 Knockout HEK293 Cell Line | EDJ-KQ2139 | Human | 252969 | Details Get a Quote |
| NEIL2 Knockout A-549 Cell Line | EDJ-KQ22301 | Human | 252969 | Details Get a Quote |
| NEIL2 Knockout HCT 116 Cell Line | EDJ-KQ22302 | Human | 252969 | Details Get a Quote |
| NEIL2 Knockout HeLa Cell Line | EDJ-KQ22303 | Human | 252969 | Details Get a Quote |
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