Format

Send to:

Choose Destination

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

Gene ID: 1777, updated on 24-Nov-2020

Summary

Official Symbol
DNASE2provided by HGNC
Official Full Name
deoxyribonuclease 2, lysosomalprovided by HGNC
Primary source
HGNC:HGNC:2960
See related
Ensembl:ENSG00000105612 MIM:126350
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]
Expression
Ubiquitous expression in thyroid (RPKM 23.0), lymph node (RPKM 17.9) and 25 other tissues See more
Orthologs

Genomic context

See DNASE2 in Genome Data Viewer
Location:
19p13.13
Exon count:
6
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (12875209..12881449, 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 microtubule associated serine/threonine kinase 1 Neighboring gene microRNA 6794 Neighboring gene Sharpr-MPRA regulatory region 6054 Neighboring gene CRISPRi-FlowFISH-validated KLF1 regulatory element Neighboring gene CRISPRi-FlowFISH-validated DNASE2 regulatory element Neighboring gene CRISPRi-FlowFISH-validated DNASE2 regulatory element

Genomic regions, transcripts, and products

Expression

  • 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles.
GeneReviews: Not available

HIV-1 interactions

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
PubMed 
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
PubMed 
erythrocyte differentiation IEA
Inferred from Electronic Annotation
more info
 
regulation of immune response IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
extracellular exosome HDA PubMed 
lysosome IEA
Inferred from Electronic Annotation
more info
 

General protein information

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

NCBI Reference Sequences (RefSeq)

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_001375.3NP_001366.1  deoxyribonuclease-2-alpha precursor

    See identical proteins and their annotated locations for NP_001366.1

    Status: REVIEWED

    Source sequence(s)
    AC020934, AF060222
    Consensus CDS
    CCDS12284.1
    UniProtKB/Swiss-Prot
    O00115
    UniProtKB/TrEMBL
    A0A024R7F4
    Related
    ENSP00000222219.2, ENST00000222219.8
    Conserved Domains (1) summary
    pfam03265
    Location:18343
    DNase_II; Deoxyribonuclease II

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    12875209..12881449 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Support Center