DNASE1L2
Chr 16deoxyribonuclease 1 like 2
Also known as: DNAS1L2
The protein is a divalent cation-dependent acid DNA endonuclease that breaks down nuclear DNA during corneocyte formation in epidermal keratinocytes and may eliminate harmful extracellular DNA from damaged skin cells. Mutations cause autosomal recessive hypotrichosis simplex, a condition characterized by sparse hair affecting the scalp and body. The gene shows very low constraint against loss-of-function variants, consistent with recessive inheritance.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
DNASE1L2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
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