Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	1776
Gene name	Deoxyribonuclease 1L3
Gene symbol	DNASE1L3
Synonyms (NCBI Gene)	D3DHP2DNAS1L3LSDSLEB16
Chromosome	3
Chromosome location	3p14.3
Summary	This gene encodes a member of the deoxyribonuclease I family. The encoded protein hydrolyzes DNA, is not inhibited by actin, and mediates the breakdown of DNA during apoptosis. Mutations in this gene are a cause of systemic lupus erythematosus-16. Alterna

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SNP ID	Visualize variation	Clinical significance	Consequence
rs1575496354	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1575497576	->T	Pathogenic	Frameshift variant, coding sequence variant

Show/Hide all (46)

miRTarBase ID	miRNA	Experiments	Reference
MIRT016727	hsa-miR-335-5p	Microarray	18185580
MIRT609493	hsa-miR-6801-3p	HITS-CLIP	23824327
MIRT609492	hsa-miR-6810-3p	HITS-CLIP	23824327
MIRT609491	hsa-miR-6812-3p	HITS-CLIP	23824327
MIRT609490	hsa-miR-1236-3p	HITS-CLIP	23824327
MIRT609489	hsa-miR-1184	HITS-CLIP	23824327
MIRT609488	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT609487	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT609486	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT609485	hsa-miR-7156-3p	HITS-CLIP	23824327
MIRT609484	hsa-miR-4725-5p	HITS-CLIP	23824327
MIRT609495	hsa-miR-6819-3p	HITS-CLIP	23824327
MIRT609494	hsa-miR-6877-3p	HITS-CLIP	23824327
MIRT609493	hsa-miR-6801-3p	HITS-CLIP	23824327
MIRT609492	hsa-miR-6810-3p	HITS-CLIP	23824327
MIRT609491	hsa-miR-6812-3p	HITS-CLIP	23824327
MIRT609490	hsa-miR-1236-3p	HITS-CLIP	23824327
MIRT609489	hsa-miR-1184	HITS-CLIP	23824327
MIRT609488	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT609487	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT609486	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT609485	hsa-miR-7156-3p	HITS-CLIP	23824327
MIRT609484	hsa-miR-4725-5p	HITS-CLIP	23824327
MIRT609493	hsa-miR-6801-3p	HITS-CLIP	23824327
MIRT609492	hsa-miR-6810-3p	HITS-CLIP	23824327
MIRT609491	hsa-miR-6812-3p	HITS-CLIP	23824327
MIRT609490	hsa-miR-1236-3p	HITS-CLIP	23824327
MIRT609489	hsa-miR-1184	HITS-CLIP	23824327
MIRT609488	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT609487	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT609486	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT609485	hsa-miR-7156-3p	HITS-CLIP	23824327
MIRT609484	hsa-miR-4725-5p	HITS-CLIP	23824327
MIRT609495	hsa-miR-6819-3p	HITS-CLIP	23824327
MIRT609494	hsa-miR-6877-3p	HITS-CLIP	23824327
MIRT609493	hsa-miR-6801-3p	HITS-CLIP	23824327
MIRT609492	hsa-miR-6810-3p	HITS-CLIP	23824327
MIRT609491	hsa-miR-6812-3p	HITS-CLIP	23824327
MIRT609490	hsa-miR-1236-3p	HITS-CLIP	23824327
MIRT609489	hsa-miR-1184	HITS-CLIP	23824327
MIRT609488	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT609487	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT609486	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT609485	hsa-miR-7156-3p	HITS-CLIP	23824327
MIRT609484	hsa-miR-4725-5p	HITS-CLIP	23824327
MIRT942182	hsa-miR-1303	CLIP-seq

Show/Hide all (34)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002283	Process	Neutrophil activation involved in immune response	IEA
GO:0002283	Process	Neutrophil activation involved in immune response	ISS	29191910
GO:0002673	Process	Regulation of acute inflammatory response	IEA
GO:0002673	Process	Regulation of acute inflammatory response	ISS	29191910
GO:0003677	Function	DNA binding	IBA
GO:0003677	Function	DNA binding	IEA
GO:0003677	Function	DNA binding	TAS	9070308
GO:0003824	Function	Catalytic activity	IEA
GO:0004518	Function	Nuclease activity	IEA
GO:0004519	Function	Endonuclease activity	IEA
GO:0004520	Function	DNA endonuclease activity	IEA
GO:0004530	Function	Deoxyribonuclease I activity	IBA
GO:0004536	Function	DNA nuclease activity	IEA
GO:0004536	Function	DNA nuclease activity	TAS	9070308
GO:0005509	Function	Calcium ion binding	TAS	9205125
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005576	Component	Extracellular region	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	23229555
GO:0005634	Component	Nucleus	IEA
GO:0005783	Component	Endoplasmic reticulum	IDA	23229555
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0006259	Process	DNA metabolic process	TAS	9070308
GO:0006308	Process	DNA catabolic process	IEA
GO:0006309	Process	Apoptotic DNA fragmentation	IBA
GO:0006309	Process	Apoptotic DNA fragmentation	IDA	23229555
GO:0006309	Process	Apoptotic DNA fragmentation	IEA
GO:0006915	Process	Apoptotic process	IEA
GO:0010623	Process	Programmed cell death involved in cell development	IBA
GO:0010623	Process	Programmed cell death involved in cell development	IEA
GO:0012501	Process	Programmed cell death	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0070948	Process	Regulation of neutrophil mediated cytotoxicity	IEA
GO:0070948	Process	Regulation of neutrophil mediated cytotoxicity	ISS	29191910

MIM	HGNC	e!Ensembl
602244	2959	ENSG00000163687

Q13609

Protein name

Deoxyribonuclease gamma (DNase gamma) (EC 3.1.21.-) (DNase I homolog protein DHP2) (Deoxyribonuclease I-like 3) (DNase I-like 3) (Liver and spleen DNase) (LS-DNase) (LSD)

Protein function

Has DNA hydrolytic activity. Is capable of both single- and double-stranded DNA cleavage, producing DNA fragments with 3'-OH ends (By similarity). Can cleave chromatin to nucleosomal units and cleaves nucleosomal and liposome-coated DNA (PubMed:

PDB

7KIU

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF03372	Exo_endo_phos	24 → 274	Endonuclease/Exonuclease/phosphatase family	Domain

Tissue specificity

TISSUE SPECIFICITY: Liver and spleen.

Sequence

MSRELAPLLLLLLSIHSALAMRICSFNVRSFGESKQEDKNAMDVIVKVIKRCDIILVMEI
KDSNNRICPILMEKLNRNSRRGITYNYVISSRLGRNTYKEQYAFLYKEKLVSVKRSYHYH
DYQDGDADVFSREPFVVWFQSPHTAVKDFVIIPLHTTPETSVKEIDELVEVYTDVKHRWK
AENFIFMGDFNAGCSYVPKKAWKNIRLRTDPRFVWLIGDQEDTTVKKSTNCAYDRIVLRG
QEIVSSVVPKSNSVFDFQKAYKLTEEEALDVSDHFPVEFKLQSSRAFTNSKKSVTLRKKT
KSKRS

Sequence length

305

Interactions

View interactions

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autosomal systemic lupus erythematosus type 16	Likely pathogenic; Pathogenic	rs751206379, rs2107373870, rs1164270727, rs2471306385, rs1575496354, rs1575497576	RCV001526441 RCV001824250 RCV005034492 RCV004584153 RCV000023182 RCV005036138
DNASE1L3-related disorder	Likely pathogenic; Pathogenic	rs751206379	RCV003416385

Show/Hide Unknown Diseases (9)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Adrenocortical carcinoma, hereditary	Benign	rs3772985	RCV005914445
Cervical cancer	Uncertain significance	rs776563700	RCV005926747
Cholangiocarcinoma	Benign	rs3772985	RCV005914450
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	rs3772985	RCV005914451
Familial pancreatic carcinoma	Benign	rs3772985	RCV005914447
Lymphoma	Benign	rs3772985	RCV005914449
Malignant lymphoma, large B-cell, diffuse	Benign	rs3772985	RCV005914448
Nonpapillary renal cell carcinoma	Benign	rs3772985	RCV005914444
Uveal melanoma	Benign	rs3772985	RCV005914446

Show/Hide Text Mining Associations (31)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Arthritis Rheumatoid	Associate	33173951
Asthma	Stimulate	31903716
Asthma	Associate	33035569
Autoimmune Diseases	Associate	33173951, 36708011
Behcet Syndrome	Associate	33971891
Carcinoma Hepatocellular	Associate	31977318, 33744849, 33879119, 34726341, 35035517, 39223584
Carcinoma Hepatocellular	Inhibit	35748106
Carcinoma Pancreatic Ductal	Inhibit	40065365
Carcinoma Renal Cell	Associate	28349958
Colorectal Neoplasms	Inhibit	34157681, 37950156
COVID 19	Associate	35852866
Diabetes Mellitus Type 2	Associate	35257412
Diabetic Nephropathies	Associate	37867508
Drug Related Side Effects and Adverse Reactions	Associate	14725611
Gaucher Disease	Associate	23434032
Glomerulonephritis Membranoproliferative	Associate	23666765
Hereditary leiomyomatosis and renal cell cancer	Associate	38081297
Hodgkin Disease	Associate	38081297
Lung Neoplasms	Associate	21720004
Lupus Erythematosus Systemic	Associate	23666765, 25332064, 30707351, 33173951, 33455918, 35964089, 36941260, 37048133
Lupus Erythematosus Systemic	Inhibit	32188756
Lysosomal Storage Diseases	Associate	23434032
Neoplasm Metastasis	Inhibit	35748106
Neoplasms	Inhibit	33744849, 34726341, 40065365
Neoplasms	Associate	38081297
Pneumonia	Associate	28302172
Primary Myelofibrosis	Associate	38386293
Scleroderma Systemic	Associate	25332064, 33173951, 36708011
Sleep Apnea Obstructive	Associate	34529670
Sleep Deprivation	Stimulate	19574717
Uterine Cervical Neoplasms	Associate	14725611

DNASE1L3 (deoxyribonuclease 1L3)