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    DNASE2 deoxyribonuclease 2, lysosomal [ Homo sapiens (human) ]

    Gene ID: 1777, updated on 22-Apr-2017
    Official Symbol
    DNASE2provided by HGNC
    Official Full Name
    deoxyribonuclease 2, lysosomalprovided by HGNC
    Primary source
    HGNC:HGNC:2960
    See related
    Ensembl:ENSG00000105612 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]
    Orthologs
    Location:
    19p13.13
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 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 uncharacterized LOC105372281 Neighboring gene retbindin Neighboring gene microtubule associated serine/threonine kinase 1 Neighboring gene microRNA 6794 Neighboring gene Kruppel like factor 1 Neighboring gene ribosomal protein S6 pseudogene 25 Neighboring gene glutaryl-CoA dehydrogenase

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env HIV-1 gp120 upregulates the expression of lysosomal deoxyribonuclease II (DNASE2) in human B cells PubMed

    Go to the HIV-1, Human Interaction Database

    • 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...
    • Vesicle-mediated transport, organism-specific biosystem (from REACTOME)
      Vesicle-mediated transport, organism-specific biosystemThe transit of proteins and other cargo through the cell requires a cellular transport process in which transported substances are moved in membrane-bounded vesicles. Transported substances are enclo...
    • 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 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
    DNase II alpha
    DNase II, lysosomal
    R31240_2
    acid DNase
    deoxyribonuclease II alpha
    deoxyribonuclease II, lysosomal
    lysosomal DNase II
    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 identical proteins and their annotated locations for NP_001366.1

      Status: REVIEWED

      Source sequence(s)
      AF060222, BX394955
      Consensus CDS
      CCDS12284.1
      UniProtKB/Swiss-Prot
      O00115
      UniProtKB/TrEMBL
      A0A024R7F4
      Related
      ENSP00000222219.2, OTTHUMP00000264566, ENST00000222219.7, 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:18345
      DNase_II; Deoxyribonuclease II

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p7 Primary Assembly

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

    Alternate CHM1_1.1

    Genomic

    1. NC_018930.2 Alternate CHM1_1.1

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