Deoxyribonuclease ii, lysosomal

DNASE2
Identifiers
Aliases	DNASE2 , DNASE2A, DNL, DNL2, deoxyribonuclease II, lysosomal, deoxyribonuclease 2, lysosomal
External IDs	OMIM: 126350 MGI: 1329019 HomoloGene: 68179 GeneCards: DNASE2
Gene location (Human)
Chr.	Chromosome 19 (human) [1]
End	12,881,466 bp [1]
Gene location (Mouse)
Chr.	Chromosome 8 (mouse) [2]
End	84,922,915 bp [2]
Gene ontology
Molecular function	• DNA binding ; • nuclease activity ; • endonuclease activity ; • endodeoxyribonuclease activity ; • hydrolase activity ; • deoxyribonuclease II activity ;
Cellular component	• lysosome ; • extracellular exosome ; • intracellular ;
Biological process	• erythrocyte differentiation ; • multicellular organism development ; • DNA metabolic process ; • DNA catabolic process ; • DNA catabolic process, endonucleolytic ; • apoptotic process ; • apoptotic DNA fragmentation ; • regulation of immune response ;
	Sources:Amigo / QuickGO
Orthologs
	1777
	13423
	ENSG00000105612
	ENSMUSG00000003812
	O00115
	P56542
	NM_001375
	NM_010062 ; NM_001368295 ; NM_001368296
	NP_001366 ; NP_001366.1
	NP_034192 ; NP_001355224 ; NP_001355225
	Wikidata
View/Edit Human	View/Edit Mouse

Last updated October 31, 2019

Deoxyribonuclease II, lysosomal is a protein that in humans is encoded by the DNASE2 gene. ^[5]

Protein Biological molecule consisting of chains of amino acid residues

Proteins are large biomolecules, or macromolecules, consisting of one or more long chains of amino acid residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, responding to stimuli, providing structure to cells, and organisms, and transporting molecules from one location to another. Proteins differ from one another primarily in their sequence of amino acids, which is dictated by the nucleotide sequence of their genes, and which usually results in protein folding into a specific three-dimensional structure that determines its activity.

In biology, a gene is a sequence of nucleotides in DNA or RNA that encodes the synthesis of a gene product, either RNA or protein.

Function

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.

A deoxyribonuclease is an enzyme that catalyzes the hydrolytic cleavage of phosphodiester linkages in the DNA backbone, thus degrading DNA. Deoxyribonucleases are one type of nuclease, a generic term for enzymes capable of hydrolyzing phosphodiester bonds that link nucleotides. A wide variety of deoxyribonucleases are known, which differ in their substrate specificities, chemical mechanisms, and biological functions.

A lysosome is a membrane-bound organelle found in many animal cells. They are spherical vesicles that contain hydrolytic enzymes that can break down many kinds of biomolecules. A lysosome has a specific composition, of both its membrane proteins, and its lumenal proteins. The lumen's pH (~4.5–5.0) is optimal for the enzymes involved in hydrolysis, analogous to the activity of the stomach. Besides degradation of polymers, the lysosome is involved in various cell processes, including secretion, plasma membrane repair, cell signaling, and energy metabolism.

Hydrolysis is any chemical reaction in which a molecule of water ruptures one or more chemical bonds. The term is used broadly for substitution, elimination, and fragmentation reactions in which water is the nucleophile.

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.

An allele is a variant form of a given gene. Sometimes, different alleles can result in different observable phenotypic traits, such as different pigmentation. A notable example of this trait of color variation is Gregor Mendel's discovery that the white and purple flower colors in pea plants were the result of "pure line" traits which could be used as a control for future experiments. However, most alleles result in little or no observable phenotypic variation.

Nucleotides are molecules consisting of a nucleoside and a phosphate group. They are the basic building blocks of DNA and RNA.

Related Research Articles

Deoxyribonuclease I protein-coding gene in the species Homo sapiens

Deoxyribonuclease I, is an endonuclease coded by the human gene DNASE1. DNase I is a nuclease that cleaves DNA preferentially at phosphodiester linkages adjacent to a pyrimidine nucleotide, yielding 5'-phosphate-terminated polynucleotides with a free hydroxyl group on position 3', on average producing tetranucleotides. It acts on single-stranded DNA, double-stranded DNA, and chromatin. In addition to its role as a waste-management endonuclease, it has been suggested to be one of the deoxyribonucleases responsible for DNA fragmentation during apoptosis.

Acid alpha-glucosidase, also called α-1,4-glucosidase and acid maltase, is an enzyme that helps to break down glycogen in the lysosome. It is functionally similar to glycogen debranching enzyme, but is on a different chromosome, processed differently by the cell and is located in the lysosome rather than the cytosol. In humans, it is encoded by the GAA gene. Errors in this gene cause glycogen storage disease type II.

Cathepsin A is an enzyme that is classified both as a cathepsin and a carboxypeptidase. In humans, it is encoded by the CTSA gene.

Membrane-bound transcription factor site-1 protease, or site-1 protease (S1P) for short, also known as subtilisin/kexin-isozyme 1 (SKI-1), is an enzyme that in humans is encoded by the MBTPS1 gene. S1P cleaves the endoplasmic reticulum loop of sterol regulatory element-binding protein (SREBP) transcription factors.

Putative P2Y purinoceptor 10 is a protein that, in humans, is encoded by the P2RY10 gene.

G-protein coupled receptor family C group 5 member B is a protein that in humans is encoded by the GPRC5B gene.

Deoxyribonuclease gamma is an enzyme that in humans is encoded by the DNASE1L3 gene.

Deoxyribonuclease-1-like 1 is an enzyme that in humans is encoded by the DNASE1L1 gene.

Group XV phospholipase A2 is an enzyme that in humans is encoded by the PLA2G15 gene.

Gamma-interferon-inducible lysosomal thiol reductase is an enzyme that in humans is encoded by the IFI30 gene.

V-type proton ATPase subunit C 2 is an enzyme that in humans is encoded by the ATP6V1C2 gene.

Di-N-acetylchitobiase is an enzyme that in humans is encoded by the CTBS gene.

ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2 is a protein in humans that is encoded by the ATP6V0D2 gene. It is part of proton pumps in the plasma membranes of osteoclasts and aids with extracellular acidification in bone resorption.

Transmembrane protein 200A is a protein that in humans is encoded by the TMEM200A gene.

Solute carrier family 7, member 14 is a protein that in humans is encoded by the SLC7A14 gene.

Ribonuclease H2 subunit C is a protein that in humans is encoded by the RNASEH2C gene. RNase H2 is composed of a single catalytic subunit (A) and two non-catalytic subunits, and degrades the RNA of RNA:DNA hybrids.

Lysosomal protein transmembrane 4 alpha is a protein that in humans is encoded by the LAPTM4A gene.

Late endosomal/lysosomal adaptor, MAPK and MTOR activator 4 is a protein that in humans is encoded by the LAMTOR4 gene.

Deoxyribonuclease 2 beta is a protein that in humans is encoded by the DNASE2B gene.

Single-stranded DNA-binding protein 4 is a protein that in humans is encoded by the SSBP4 gene.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000105612 - Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000003812 - Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Entrez Gene: Deoxyribonuclease II, lysosomal" . Retrieved 2016-09-07.

Deoxyribonuclease ii, lysosomal

Contents

Function

Related Research Articles

References

Further reading