DNASE2 - deoxyribonuclease 2, lysosomal Gene
Also Known as DNL; DNL2; AIPCS; DNASE2A
Species: Homo sapiens
About DNASE2
This gene has 7 transcripts (splice variants), 192 orthologues, 1 paralogue and is associated with 1 phenotype. Ubiquitous expression in thyroid (RPKM 23.0), lymph node (RPKM 17.9) and 25 other tissues.
Summary
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]
DNASE2 Products (1)
| mRNA | Protein | Name |
|---|---|---|
| NM_001375.3 | NP_001366.1 | deoxyribonuclease-2-alpha precursor |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
28514442 | GOA |
DNASE2 Protein Structure
DNase_II: Deoxyribonuclease II (18 - 347)
- 0
- 100
- 200
- 300
- 360 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
deoxyribonuclease-2-alpha |
|
DNASE2 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
DNASE2 | O00115 | CANX | Homo sapiens | P27824 | 28514442 | |
|
Intra
|
DNASE2 | O00115 | CANX | Homo sapiens | P27824 | 33961781 |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Autoinflammatory-Pancytopenia Syndrome |
|
|
| Transient Neonatal Thrombocytopenia |
|
|
| Transient Neonatal Neutropenia |
|
|
| Neonatal Anemia |
|
|
| Chilblain Lupus 1 |
|
|
| Sting-Associated Vasculopathy With Onset In Infancy |
|
|
| Aicardi-Goutieres Syndrome |
|
|
| Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
|
| Torch Syndrome |
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Mus musculus | DNASE2 | MGD | MGI:1329019 |
| Macaca mulatta | DNASE2 | VGNC | VGNC:71950 |
| Rattus norvegicus | DNASE2 | RGD | RGD:621457 |
| Felis catus | DNASE2 | VGNC | VGNC:61555 |
| Canis familiaris | DNASE2 | VGNC | VGNC:40026 |
| Bos taurus | DNASE2 | VGNC | VGNC:28136 |
| Others | DNASE2 | NCBI |