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DNASE2 deoxyribonuclease II, lysosomal [ Homo sapiens (human) ]

Gene ID: 1777, updated on 7-Dec-2014
Official Symbol
DNASE2provided by HGNC
Official Full Name
deoxyribonuclease II, lysosomalprovided by HGNC
Primary source
HGNC:HGNC:2960
See related
Ensembl:ENSG00000105612; HPRD:00531; MIM:126350; Vega:OTTHUMG00000180535
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
DNL; DNL2; DNASE2A
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]
See DNASE2 in Epigenomics, MapViewer
Location:
19p13.2
Exon count:
6
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 19 NC_000019.10 (12875211..12881521, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (12986025..12992409, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene retbindin Neighboring gene microtubule associated serine/threonine kinase 1 Neighboring gene microRNA 6794 Neighboring gene Kruppel-like factor 1 (erythroid) Neighboring gene ribosomal protein S6 pseudogene 25 Neighboring gene glutaryl-CoA dehydrogenase

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • Clathrin derived vesicle budding, organism-specific biosystem (from REACTOME)
    Clathrin derived vesicle budding, organism-specific biosystemThere at least two classes of clathrin coated vesicles in cells, one predominantly Golgi-associated, involved in budding from the trans-Golgi network and the other at the plasma membrane. Here the cl...
  • Lysosome, organism-specific biosystem (from KEGG)
    Lysosome, organism-specific biosystemLysosomes are membrane-delimited organelles in animal cells serving as the cell's main digestive compartment to which all sorts of macromolecules are delivered for degradation. They contain more than...
  • Lysosome, conserved biosystem (from KEGG)
    Lysosome, conserved biosystemLysosomes are membrane-delimited organelles in animal cells serving as the cell's main digestive compartment to which all sorts of macromolecules are delivered for degradation. They contain more than...
  • Lysosome Vesicle Biogenesis, organism-specific biosystem (from REACTOME)
    Lysosome Vesicle Biogenesis, organism-specific biosystemProteins that have been synthesized, processed and sorted eventually reach the final steps of the secretory pathway. This pathway is responsible not only for proteins that are secreted from the cell ...
  • Membrane Trafficking, organism-specific biosystem (from REACTOME)
    Membrane Trafficking, organism-specific biosystemThe secretory membrane system allows a cell to regulate delivery of newly synthesized proteins, carbohydrates, and lipids to the cell surface, a necessity for growth and homeostasis. The system is ma...
  • trans-Golgi Network Vesicle Budding, organism-specific biosystem (from REACTOME)
    trans-Golgi Network Vesicle Budding, organism-specific biosystemAfter passing through the Golgi complex, secretory cargo is packaged into post-Golgi transport intermediates (post-Golgi), which translocate plus-end directed along microtubules to the plasma membran...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding TAS
Traceable Author Statement
more info
PubMed 
deoxyribonuclease II activity IBA
Inferred from Biological aspect of Ancestor
more info
 
Process Evidence Code Pubs
DNA metabolic process TAS
Traceable Author Statement
more info
PubMed 
apoptotic DNA fragmentation IBA
Inferred from Biological aspect of Ancestor
more info
 
erythrocyte differentiation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
extracellular vesicular exosome IDA
Inferred from Direct Assay
more info
PubMed 
intracellular IBA
Inferred from Biological aspect of Ancestor
more info
 
lysosome IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
deoxyribonuclease-2-alpha
Names
deoxyribonuclease-2-alpha
R31240_2
acid DNase
DNase II alpha
lysosomal DNase II
DNase II, lysosomal
deoxyribonuclease II alpha
NP_001366.1

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001375.2NP_001366.1  deoxyribonuclease-2-alpha precursor

    See proteins identical to NP_001366.1

    Status: REVIEWED

    Source sequence(s)
    AF060222, BX394955
    Consensus CDS
    CCDS12284.1
    UniProtKB/TrEMBL
    A0A024R7F4
    UniProtKB/Swiss-Prot
    O00115
    Related
    ENSP00000222219, OTTHUMP00000264566, ENST00000222219, OTTHUMT00000451790
    Conserved Domains (3) summary
    cd09189
    Location:15176
    PLDc_DNaseII_alpha_1; Catalytic domain, repeat 1, of Deoxyribonuclease II alpha and similar proteins
    cd09191
    Location:209347
    PLDc_DNaseII_alpha_2; Catalytic domain, repeat 2, of Deoxyribonuclease II alpha and similar proteins
    pfam03265
    Location:17347
    DNase_II; Deoxyribonuclease II

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000019.10 

    Range
    12875211..12881521
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018930.2 

    Range
    12986545..12992854
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000151.1 

    Range
    12557881..12564200
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)