DNASE1L2

Chr 16

deoxyribonuclease 1 like 2

Also known as: DNAS1L2

NCBI Gene: 1775ENSG00000167968UniProt: Q92874OMIM: 602622

Predicted to enable DNA binding activity and deoxyribonuclease I activity. Predicted to be involved in DNA catabolic process. Predicted to act upstream of or within corneocyte development and hair follicle development. Predicted to be located in cytoplasm and extracellular region. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Jul 2025]

OMIMResearchGenerating clinical summary…
LOEUF 1.40
Clinical Summary— DNASE1L2
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Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.40LOEUF
pLI 0.000
Z-score 0.52
OE 0.84 (0.53–1.40)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.34Z-score
OE missense 1.07 (0.95–1.20)
200 obs / 186.9 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.84 (0.53–1.40)
0≤0.351.4
Missense OE?1.07 (0.95–1.20)
0≤0.61.4
Synonymous OE?0.98
0≤1.21.6
LoF obs/exp: 11 / 13.0Missense obs/exp: 200 / 186.9Syn Z: 0.11

ClinVar Variant Classifications

0 submitted variants in ClinVar

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.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

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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