DNASE2B
Chr 1deoxyribonuclease 2 beta
Also known as: DLAD
The protein functions as an endonuclease that hydrolyzes DNA under acidic conditions without requiring divalent cations, with expression restricted to salivary glands and lungs, and participates in nuclear DNA degradation during lens cell differentiation. This gene is extremely tolerant of loss-of-function variants (pLI near zero), and no established Mendelian diseases have been definitively linked to DNASE2B mutations in current medical literature.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
55 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 14 | 0 | 14 |
Likely Pathogenic | 0 | 0 | 2 | 0 | 2 |
VUS | 0 | 34 | 3 | 0 | 37 |
Likely Benign | 0 | 0 | 0 | 0 | 0 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 0 | 34 | 19 | 0 | 53 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
DNASE2B · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools