DNASE2 - deoxyribonuclease 2, lysosomal Gene

Also Known as DNL; DNL2; AIPCS; DNASE2A

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 1777

About DNASE2

Cytogenetic location: 19p13.13 Genomic coordinates (GRCh38): 19:12,875,209-12,881,449 (from NCBI)

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
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

DNASE2 Protein Structure

DNase_II

DNase_II: Deoxyribonuclease II (18 - 347)

  • 0
  • 100
  • 200
  • 300
  • 360 a.a.
Protein Preferred Names Protein Names

deoxyribonuclease-2-alpha

  • DNase II 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
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Autoinflammatory-Pancytopenia Syndrome
  • AIPCS

Transient Neonatal Thrombocytopenia
Transient Neonatal Neutropenia
Neonatal Anemia
  • Anemia Neonatal

  • Anemia, Neonatal

  • Anaemia Neonatal

  • Neonatal Anaemia

Chilblain Lupus 1
  • Chilblain Lupus

  • CHBL1

  • Chilblain Lupus Erythematosus

  • Chle

  • Hutchinson Lupus

  • Chilblain Lupus, Type 1

Sting-Associated Vasculopathy With Onset In Infancy
  • Savi

  • Sting-Associated Vasculopathy, Infantile Onset

  • Sting-Associated Vasculopathy, Infantile-Onset

Aicardi-Goutieres Syndrome
  • Aicardi Goutieres Syndrome

  • Cree Encephalitis

  • Aicardi-Goutières Syndrome

  • Encephalopathy With Basal Ganglia Calcification

  • Ags

  • Encephalopathy With Intracranial Calcification And Chronic Lymphocytosis Of Cerebrospinal Fluid

  • Pseudotoxoplasmosis Syndrome

  • Encephalopathy, Familial Infantile, With Calcification Of Basal Ganglia And Chronic Cerebrospinal Fluid Lymphocytosis

  • Familial Infantile Encephalopathy With Intracranial Calcification And Chronic Cerebrospinal Fluid Lymphocytosis

  • Aicardi-Goutieres Syndrome 1

Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
  • Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations

  • Crv

  • Rvcl

  • Rvcl-S

  • Vasculopathy, Retinal, With Cerebral Leukodystrophy

  • Retinopathy, Vascular, With Cerebral And Renal Involvement And Raynaud And Migraine Phenomena

  • Retinal Vasculopathy With Cerebral Leukodystrophy

  • Retinal Vasculopathy And Cerebral Leukoencephalopathy

  • Hereditary Vascular Retinopathy

  • Hvr

  • RVCLS

  • Cerebroretinal Vasculopathy, Hereditary

  • Cerebroretinal Vasculopathy

  • Herns

  • Vasculopathy, Retinal, With Cerebral Leukodystrophy, Formerly

  • Hereditary Cerebroretinal Vasculopathy

  • Hereditary Endotheliopathy, Retinopathy, Nephropathy, Stroke

  • Hereditary Systemic Angiopathy

  • Hsa

  • Retinal Vasculopathy With Cerebral Leukodystrophy With Systemic Manifestations

  • Adrvcl

  • Autosomal Dominant Retinal Vasculopathy With Cerebral Leukodystrophy

  • Hereditary Endotheliopathy With Retinopathy-Nephropathy-Stroke

  • Vascular Retinopathy With Cerebral And Renal Involvement And Raynaud And Migraine Phenomena

Torch Syndrome
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

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