Seroatlas · Human Serome Atlas

DNASE2

Deoxyribonuclease-2-alpha

Also known as: DNL, DNL2, DNS2A_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: O00115
Gene: DNASE2
Ensembl: ENSG00000105612
Chromosome: 19
Canonical length: 360 aa
Protein class: Disease related genes, Enzymes, Human disease related genes, Potential drug targets, Predicted intracellular proteins
Secretome location: Intracellular and membrane

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

360 residues, UniProt reviewed canonical sequence.

>O00115|DNASE2
     1  MIPLLLAALL CVPAGALTCY GDSGQPVDWF VVYKLPALRG SGEAAQRGLQ YKYLDESSGG
    61  WRDGRALINS PEGAVGRSLQ PLYRSNTSQL AFLLYNDQPP QPSKAQDSSM RGHTKGVLLL
   121  DHDGGFWLVH SVPNFPPPAS SAAYSWPHSA CTYGQTLLCV SFPFAQFSKM GKQLTYTYPW
   181  VYNYQLEGIF AQEFPDLENV VKGHHVSQEP WNSSITLTSQ AGAVFQSFAK FSKFGDDLYS
   241  GWLAAALGTN LQVQFWHKTV GILPSNCSDI WQVLNVNQIA FPGPAGPSFN STEDHSKWCV
   301  SPKGPWTCVG DMNRNQGEEQ RGGGTLCAQL PALWKAFQPL VKNYQPCNGM ARKPSRAYKI

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against DNASE2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.25
Highest tissue expression: 43 nTPM

Expression across tissuesHPA

Tissue

blood vessel: 43 nTPM
lymph node: 36 nTPM
parathyroid gland: 34 nTPM
salivary gland: 32 nTPM
lung: 32 nTPM
liver: 31 nTPM

Single-cell type

hofbauer cells: 211 nCPM
extravillous trophoblasts: 132 nCPM
kupffer cells: 110 nCPM
migrating cytotrophoblasts: 71 nCPM
cytotrophoblasts: 71 nCPM
epididymal principal cells: 67 nCPM

Immune cell

non-classical monocyte: 96 nTPM
intermediate monocyte: 81 nTPM
classical monocyte: 61 nTPM
T-reg: 49 nTPM
basophil: 48 nTPM
total PBMC: 45 nTPM

Brain region

white matter: 20 nTPM
medulla oblongata: 14 nTPM
spinal cord: 14 nTPM
choroid plexus: 14 nTPM
pons: 14 nTPM
thalamus: 12 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about DNASE2.

Disease | AllUniProt

Conditions DNASE2 is implicated in, by any mechanism.

Autoinflammatory-pancytopenia syndrome (AIPCS) MIM:619858

Disease | GeneticClinVar

3 pathogenic / likely-pathogenic of 194 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.88
gnomAD pLI: 0
gnomAD missense Z: 0.64
DepMap mean gene effect: -0.11
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads DNASE2 as an antibody target. Whether an autoantibody or antibody against DNASE2 could matter depends on whether native DNASE2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

DNASE2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label DNASE2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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