NEIL2

Chr 8

nei like DNA glycosylase 2

Also known as: NEH2, NEI2

NCBI Gene: 252969ENSG00000154328UniProt: Q969S2

This gene encodes a member of the Fpg/Nei family of DNA glycosylases. These glycosylases initiate the first step in base excision repair by cleaving oxidatively damaged bases and introducing a DNA strand break via their abasic site lyase activity. This enzyme is primarily associated with DNA repair during transcription and acts prefentially on cytosine-derived lesions, particularly 5-hydroxyuracil and 5-hydroxycytosine. It contains an N-terminal catalytic domain, a hinge region, and a C-terminal DNA-binding domain with helix-two-turn-helix and zinc finger motifs. This enzyme interacts with the X-ray cross complementing factor 1 scaffold protein as part of a multi-protein DNA repair complex. A pseudogene of this gene has been identified. [provided by RefSeq, Mar 2017]

0
Active trials
114
Pathogenic / LP
227
ClinVar variants
8
Pubs (1 yr)
-2.1
Missense Z
1.74
LOEUF
Clinical Summary— NEIL2
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
114 Pathogenic / Likely Pathogenic· 94 VUS of 227 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
1.74LOEUF
pLI 0.000
Z-score -0.53
OE 1.16 (0.77–1.74)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
-2.09Z-score
OE missense 1.43 (1.29–1.59)
264 obs / 184.2 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE1.16 (0.77–1.74)
0≤0.351.4
Missense OE1.43 (1.29–1.59)
0≤0.61.4
Synonymous OE1.40
0≤1.21.6
LoF obs/exp: 15 / 12.9Missense obs/exp: 264 / 184.2Syn Z: -2.84

ClinVar Variant Classifications

227 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic108
Likely Pathogenic6
VUS94
Likely Benign13
Benign6
108
Pathogenic
6
Likely Pathogenic
94
VUS
13
Likely Benign
6
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
108
0
108
Likely Pathogenic
0
0
6
0
6
VUS
1
82
11
0
94
Likely Benign
0
7
3
3
13
Benign
0
2
1
3
6
Total1911296227

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

NEIL2 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Landmark / reviewRecent case evidence
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 4 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients