DNASE2 Chromosome 19
Deoxyribonuclease 2, lysosomal
Upload your DNA to see your personal genotypes for variants in DNASE2.
What This Gene Does
This gene encodes a member of the DNase family. The protein, located in the lysosome, hydrolyzes DNA under acidic conditions and mediates the breakdown of DNA during erythropoiesis and apoptosis. Two codominant alleles have been characterized, DNASE2*L (low activity) and DNASE2*H (high activity), that differ at one nucleotide in the promoter region. The DNASE2*H allele is represented in this record. [provided by RefSeq, Jul 2008]
Associated Conditions (5)
DNASE2-related disorder
Thyroid cancer
nonmedullary
1
Autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency
Key Variants
RS554384572
Conflicting classifications of pathogenicity
DNASE2-related disorder, DNASE2-related disorder
Health Risk
RS763188696
Conflicting classifications of pathogenicity
Health Risk
RS765996726
Conflicting classifications of pathogenicity
Health Risk
RS778890192
Conflicting classifications of pathogenicity
Thyroid cancer, nonmedullary, 1
Health Risk
RS1970347303
Pathogenic
Autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency, Autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency
Health Risk
RS201030953
Pathogenic
Autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency, Autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency
Health Risk
RS2145921549
Pathogenic
Autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency, Autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency
Health Risk
All Variants (7)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS554384572 | Health Risk | Conflicting classifications of pathogenicity | DNASE2-related disorder, DNASE2-related disorder |
| RS763188696 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS765996726 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS778890192 | Health Risk | Conflicting classifications of pathogenicity | Thyroid cancer, nonmedullary, 1 |
| RS1970347303 | Health Risk | Pathogenic | Autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency, Autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency |
| RS201030953 | Health Risk | Pathogenic | Autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency, Autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency |
| RS2145921549 | Health Risk | Pathogenic | Autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency, Autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency |