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

Gene ID: 1777, updated on 19-Sep-2024

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; AllianceGenome:HGNC:2960
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; AIPCS; 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
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Genomic context

See DNASE2 in Genome Data Viewer
Location:
19p13.13
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (12875209..12881449, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (12999693..13005938, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (12986023..12992263, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene CRISPRi-FlowFISH-validated PRDX2 regulatory element 5 Neighboring gene uncharacterized LOC105372281 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10176 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:12940863-12941364 Neighboring gene CRISPRi-FlowFISH-validated PRDX2 regulatory element 6 Neighboring gene retbindin Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:12945351-12945880 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:12948942-12949125 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10177 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10178 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14087 Neighboring gene microtubule associated serine/threonine kinase 1 Neighboring gene CRISPRi-FlowFISH-validated KLF1 and PRDX2 regulatory element Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:12963003-12963503 Neighboring gene microRNA 6794 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr19:12975591-12976379 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr19:12976380-12977167 Neighboring gene Sharpr-MPRA regulatory region 6054 Neighboring gene CRISPRi-FlowFISH-validated KLF1 regulatory element 1 Neighboring gene CRISPRi-FlowFISH-validated DNASE2 regulatory element 1 Neighboring gene CRISPRi-FlowFISH-validated DNASE2 regulatory element 2 Neighboring gene CRISPRi-FlowFISH-validated PRDX2 and RAD23A regulatory element Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10180 Neighboring gene CRISPRi-FlowFISH-validated CALR, DHPS, JUNB, PRDX2, RAD23A, RNASEH2A and WDR83OS regulatory element Neighboring gene CRISPRi-FlowFISH-validated KLF1 regulatory element 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14090 Neighboring gene H3K27ac-H3K4me1 hESC enhancers GRCh37_chr19:13001481-13002118 and GRCh37_chr19:13002119-13002756 Neighboring gene KLF transcription factor 1 Neighboring gene glutaryl-CoA dehydrogenase Neighboring gene ribosomal protein S6 pseudogene 25

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues 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
Autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency
MedGen: C5676977 OMIM: 619858 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

Description
Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles.
EBI GWAS Catalog

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

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA binding TAS
Traceable Author Statement
more info
PubMed 
enables deoxyribonuclease II activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in DNA metabolic process TAS
Traceable Author Statement
more info
PubMed 
involved_in apoptotic DNA fragmentation IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in enucleate erythrocyte differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of immune response IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in extracellular exosome HDA PubMed 
located_in 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)

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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
    B2RD06, B7Z4K6, O00115, O43910
    UniProtKB/TrEMBL
    B3KQS9
    Related
    ENSP00000222219.2, ENST00000222219.8
    Conserved Domains (1) summary
    pfam03265
    Location:18343
    DNase_II; Deoxyribonuclease II

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    12999693..13005938 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)