Free for academic non-profit institutions. Other users need a Commercial license

Aliases for DNASE1L2 Gene

Aliases for DNASE1L2 Gene

  • Deoxyribonuclease 1 Like 2 2 3 5
  • DNase I Homolog Protein DHP1 3 4
  • Deoxyribonuclease I-Like 2 3 4
  • DNase I-Like 2 3 4
  • DNAS1L2 3 4
  • Deoxyribonuclease I Like 2 2
  • Deoxyribonuclease-1-Like 2 3
  • EC 3.1.21.1 56
  • EC 3.1.21.- 4
  • DHP1 4

External Ids for DNASE1L2 Gene

Previous GeneCards Identifiers for DNASE1L2 Gene

  • GC16M002497
  • GC16P002311
  • GC16P002226
  • GC16P002286
  • GC16P002212
  • GC16P002285

Summaries for DNASE1L2 Gene

GeneCards Summary for DNASE1L2 Gene

DNASE1L2 (Deoxyribonuclease 1 Like 2) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include calcium ion binding and deoxyribonuclease activity. An important paralog of this gene is DNASE1.

UniProtKB/Swiss-Prot for DNASE1L2 Gene

  • Divalent cation-dependent acid DNA endonuclease involved in the breakdown of the nucleus during corneocyte formation of epidermal keratinocytes. May play an immune role by eliminating harmful DNA released into the extracellular environment by damaged epidermal cells.

Gene Wiki entry for DNASE1L2 Gene

Additional gene information for DNASE1L2 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DNASE1L2 Gene

Genomics for DNASE1L2 Gene

GeneHancer (GH) Regulatory Elements for DNASE1L2 Gene

Promoters and enhancers for DNASE1L2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16I002234 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE 550.8 +1.4 1360 5.2 HNRNPUL1 KLF17 SIN3A RAD21 ZNF335 GLIS2 ZNF213 KLF7 EGR2 SP3 ENSG00000259780 DNASE1L2 ENSG00000261505 SRRM2 ENSG00000260051 THOC6 LOC105371055 ENSG00000260954 ENSG00000255513 SNORA64
GH16I002427 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE 3.8 +193.4 193432 2.8 HDGF PKNOX1 SMAD1 ARID4B SIN3A DMAP1 ZBTB7B POLR2B E2F8 ZNF207 CCNF TBL3 AMDHD2 ZNF200 CRAMP1 ENSG00000261207 ENSG00000260051 ZNF598 LOC652276 KCTD5
GH16I002121 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 2.3 -110.3 -110251 8.2 HDGF PKNOX1 ATF1 SIN3A FEZF1 ZNF2 IRF4 ZNF121 GLIS2 ARID2 AMDHD2 ENSG00000260051 TBL3 E4F1 CLCN7 ENSG00000261207 ENSG00000261123 MLST8 ENSG00000261240 TSC2
GH16I001928 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 1.6 -306.1 -306092 1.8 ATF1 ARNT ARID4B SIN3A DMAP1 ZNF2 ZNF48 ZNF766 ZNF207 ZNF143 IFT140 CCDC154 TSC2 ERVK13-1 FAHD1 EME2 NME3 CRAMP1 ENSG00000260447 TELO2
GH16I002222 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 0.4 -11.6 -11642 2.7 HDGF PKNOX1 SMAD1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 E4F1 PGP IFT140 ENSG00000260646 CRAMP1 ENSG00000261123 LOC105371049 ZNF205 ENSG00000260447 DNASE1L2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around DNASE1L2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the DNASE1L2 gene promoter:

Genomic Locations for DNASE1L2 Gene

Genomic Locations for DNASE1L2 Gene
chr16:2,235,816-2,238,711
(GRCh38/hg38)
Size:
2,896 bases
Orientation:
Plus strand
chr16:2,285,817-2,288,712
(GRCh37/hg19)

Genomic View for DNASE1L2 Gene

Genes around DNASE1L2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DNASE1L2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DNASE1L2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DNASE1L2 Gene

Proteins for DNASE1L2 Gene

  • Protein details for DNASE1L2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q92874-DNSL2_HUMAN
    Recommended name:
    Deoxyribonuclease-1-like 2
    Protein Accession:
    Q92874
    Secondary Accessions:
    • E9PBY4
    • Q6JVM2
    • Q6JVM3

    Protein attributes for DNASE1L2 Gene

    Size:
    299 amino acids
    Molecular mass:
    32853 Da
    Cofactor:
    Name=Ca(2+); Xref=ChEBI:CHEBI:29108;
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for DNASE1L2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DNASE1L2 Gene

Selected DME Specific Peptides for DNASE1L2 Gene

Q92874:
  • SDHFPVE
  • CAYDRIV
  • FSREPFVV
  • WLIPDSADTT
  • GDFNADC

Post-translational modifications for DNASE1L2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DNASE1L2 Gene

Domains & Families for DNASE1L2 Gene

Gene Families for DNASE1L2 Gene

Human Protein Atlas (HPA):
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for DNASE1L2 Gene

Graphical View of Domain Structure for InterPro Entry

Q92874

UniProtKB/Swiss-Prot:

DNSL2_HUMAN :
  • Belongs to the DNase I family.
Family:
  • Belongs to the DNase I family.
genes like me logo Genes that share domains with DNASE1L2: view

Function for DNASE1L2 Gene

Molecular function for DNASE1L2 Gene

GENATLAS Biochemistry:
DNase I-like endonuclease 2,expressed in brain
UniProtKB/Swiss-Prot Function:
Divalent cation-dependent acid DNA endonuclease involved in the breakdown of the nucleus during corneocyte formation of epidermal keratinocytes. May play an immune role by eliminating harmful DNA released into the extracellular environment by damaged epidermal cells.
UniProtKB/Swiss-Prot Induction:
Up-regulated by inflammatory cytokines.

Enzyme Numbers (IUBMB) for DNASE1L2 Gene

Gene Ontology (GO) - Molecular Function for DNASE1L2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding TAS 9205125
GO:0004518 nuclease activity IEA --
GO:0004519 endonuclease activity IEA --
GO:0004536 deoxyribonuclease activity IEA,TAS --
GO:0005509 calcium ion binding TAS 9205125
genes like me logo Genes that share ontologies with DNASE1L2: view
genes like me logo Genes that share phenotypes with DNASE1L2: view

Animal Models for DNASE1L2 Gene

MGI Knock Outs for DNASE1L2:

Clone Products

No data available for Phenotypes From GWAS Catalog , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for DNASE1L2 Gene

Localization for DNASE1L2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DNASE1L2 Gene

Cytoplasm. Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DNASE1L2 gene
Compartment Confidence
extracellular 4
nucleus 4
mitochondrion 3
plasma membrane 1
peroxisome 1
endoplasmic reticulum 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for DNASE1L2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005634 nucleus IBA --
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with DNASE1L2: view

Pathways & Interactions for DNASE1L2 Gene

SuperPathways for DNASE1L2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for DNASE1L2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001942 hair follicle development IEA --
GO:0003335 corneocyte development IEA --
GO:0006259 DNA metabolic process TAS 9205125
GO:0006308 DNA catabolic process IEA --
GO:0090305 nucleic acid phosphodiester bond hydrolysis IEA --
genes like me logo Genes that share ontologies with DNASE1L2: view

No data available for Pathways by source and SIGNOR curated interactions for DNASE1L2 Gene

Drugs & Compounds for DNASE1L2 Gene

No Compound Related Data Available

Transcripts for DNASE1L2 Gene

Unigene Clusters for DNASE1L2 Gene

Deoxyribonuclease I-like 2:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for DNASE1L2 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b
SP1:
SP2: -

Relevant External Links for DNASE1L2 Gene

GeneLoc Exon Structure for
DNASE1L2
ECgene alternative splicing isoforms for
DNASE1L2

Expression for DNASE1L2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DNASE1L2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DNASE1L2 Gene

This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (x11.5) and Skin - Sun Exposed (Lower leg) (x9.0).

Protein differential expression in normal tissues from HIPED for DNASE1L2 Gene

This gene is overexpressed in Hair follicle (68.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for DNASE1L2 Gene



Protein tissue co-expression partners for DNASE1L2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of DNASE1L2 Gene:

DNASE1L2

SOURCE GeneReport for Unigene cluster for DNASE1L2 Gene:

Hs.103503

mRNA Expression by UniProt/SwissProt for DNASE1L2 Gene:

Q92874-DNSL2_HUMAN
Tissue specificity: Preferentially expressed in the skin and up-regulated during keratinocytes differentiation. Highly abundant (at protein level) in the stratum granulosum.

Evidence on tissue expression from TISSUES for DNASE1L2 Gene

  • Skin(4.4)
genes like me logo Genes that share expression patterns with DNASE1L2: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for DNASE1L2 Gene

Orthologs for DNASE1L2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for DNASE1L2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DNASE1L2 33 34
  • 93.77 (n)
cow
(Bos Taurus)
Mammalia DNASE1L2 33 34
  • 86.45 (n)
mouse
(Mus musculus)
Mammalia Dnase1l2 33 16 34
  • 79.5 (n)
rat
(Rattus norvegicus)
Mammalia Dnase1l2 33
  • 79.38 (n)
oppossum
(Monodelphis domestica)
Mammalia DNASE1L2 34
  • 68 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DNASE1L2 34
  • 60 (a)
OneToOne
chicken
(Gallus gallus)
Aves -- 34
  • 64 (a)
OneToMany
DNASE1 34
  • 57 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia DNASE1L2 34
  • 52 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii dnase1 34
  • 49 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 40 (a)
ManyToMany
-- 34
  • 35 (a)
ManyToMany
-- 34
  • 30 (a)
ManyToMany
-- 34
  • 29 (a)
ManyToMany
Species where no ortholog for DNASE1L2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for DNASE1L2 Gene

ENSEMBL:
Gene Tree for DNASE1L2 (if available)
TreeFam:
Gene Tree for DNASE1L2 (if available)

Paralogs for DNASE1L2 Gene

Paralogs for DNASE1L2 Gene

(3) SIMAP similar genes for DNASE1L2 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with DNASE1L2: view

Variants for DNASE1L2 Gene

Sequence variations from dbSNP and Humsavar for DNASE1L2 Gene

SNP ID Clin Chr 16 pos Variation AA Info Type
rs1000359585 -- 2,236,089(+) T/A upstream_transcript_variant
rs1000753426 -- 2,239,156(+) C/T downstream_transcript_variant
rs1001019631 -- 2,238,316(+) G/T intron_variant
rs1001281994 -- 2,237,708(+) G/T intron_variant
rs1001637331 -- 2,237,112(+) G/A coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for DNASE1L2 Gene

Variant ID Type Subtype PubMed ID
dgv4859n54 CNV loss 21841781
dgv4861n54 CNV loss 21841781
dgv4863n54 CNV loss 21841781
esv2422427 CNV duplication 17116639
esv2673834 CNV deletion 23128226
esv3637631 CNV loss 21293372
nsv1052260 CNV gain 25217958
nsv457351 CNV loss 19166990
nsv471072 CNV loss 18288195
nsv571200 CNV loss 21841781
nsv952902 CNV deletion 24416366

Variation tolerance for DNASE1L2 Gene

Residual Variation Intolerance Score: 69.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.26; 25.18% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DNASE1L2 Gene

Human Gene Mutation Database (HGMD)
DNASE1L2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DNASE1L2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DNASE1L2 Gene

Disorders for DNASE1L2 Gene

Additional Disease Information for DNASE1L2

No disorders were found for DNASE1L2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for DNASE1L2 Gene

Publications for DNASE1L2 Gene

  1. DNase1L2 degrades nuclear DNA during corneocyte formation. (PMID: 16902420) Fischer H … Tschachler E (The Journal of investigative dermatology 2007) 3 4 22 58
  2. Identification, localization, and expression of two novel human genes similar to deoxyribonuclease I. (PMID: 9205125) Rodriguez AM … Schneider MC (Genomics 1997) 2 3 4 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  5. Characterization of the human DNAS1L2 gene and the molecular mechanism for its transcriptional activation induced by inflammatory cytokines. (PMID: 15203207) Shiokawa D … Tanuma S (Genomics 2004) 3 4 58

Products for DNASE1L2 Gene

Sources for DNASE1L2 Gene

Content
Loading form....