DNASE2 - deoxyribonuclease 2, lysosomal Gene

Homo sapiens

Also known as DNL; DNL2; AIPCS; DNASE2A

Gene ID: 1777 | Gene type: protein coding

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

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Reference	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

0
100
200
300
360 a.a.

Protein Preferred Names

Protein Names

deoxyribonuclease-2-alpha

DNase II alpha

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03898	DNASE2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

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

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