DNASE2

Chr 19p13.13

deoxyribonuclease 2, lysosomal

MANE:: ENST00000222219.8

OMIM: 126350 ↗NCBI: 1777 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

DNASE2 · O00115

v62025-08-01

Predicted Aligned Error matrix for DNASE2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

91.1/ 100

Very high

360 residues

Confidence breakdown

Very high(≥ 90)82%
Confident(70–90)8%
Low(50–70)6%
Very low(< 50)4%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

COVID-19 research
BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency
0.69
systemic lupus erythematosus
0.11
arthropathy
0.08
obesity disorder
0.07
breast cancer
0.06
breast carcinoma
0.06
Hemoglobin C - beta-thalassemia
0.05
hemoglobin C-beta-thalassemia syndrome
0.05
type 2 diabetes mellitus
0.05
hemoglobin D disease
0.05

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Deoxyribonuclease-2-alpha

Hydrolyzes DNA under acidic conditions with a preference for double-stranded DNA. Plays a major role in the clearance of nucleic acids generated through apoptosis, hence preventing autoinflammation (PubMed:29259162, PubMed:31775019). Necessary for proper fetal development and for definitive erythropoiesis in fetal liver and bone marrow, where it degrades nuclear DNA expelled from erythroid precursor cells (PubMed:29259162)