DNASE1L3 (deoxyribonuclease 1 like 3)

2007-02-01 Affiliation

Identity

HGNC

DNASE1L3

LOCATION

3p14.3

LOCUSID

1776

ALIAS

DHP2,DNAS1L3,LSD,SLEB16

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 1776
MIM: 602244
HGNC: 2959
Ensembl: ENSG00000163687

Variants:

dbSNP: 1776
ClinVar: 1776
TCGA: ENSG00000163687
COSMIC: DNASE1L3

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000163687	ENST00000394549	Q13609
ENSG00000163687	ENST00000394549	A0A024R365
ENSG00000163687	ENST00000460422	C9J0L2
ENSG00000163687	ENST00000461914	C9J9N0
ENSG00000163687	ENST00000477209	H7C4R7
ENSG00000163687	ENST00000483681	A0A0A0MT68
ENSG00000163687	ENST00000486455	Q13609

Expression (GTEx)

100

150

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
22019780	2011	Loss-of-function variant in DNASE1L3 causes a familial form of systemic lupus erythematosus.	95
20379614	2010	Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.	62
23229555	2013	Apoptotic DNA fragmentation may be a cooperative activity between caspase-activated deoxyribonuclease and the poly(ADP-ribose) polymerase-regulated DNAS1L3, an endoplasmic reticulum-localized endonuclease that translocates to the nucleus during apoptosis.	15
25332064	2014	An Immunochip-based interrogation of scleroderma susceptibility variants identifies a novel association at DNASE1L3.	14
20800603	2010	Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.	12
19559017	2009	Caucasian-specific allele in non-synonymous single nucleotide polymorphisms of the gene encoding deoxyribonuclease I-like 3, potentially relevant to autoimmunity, produces an inactive enzyme.	11
19559017	2009	Caucasian-specific allele in non-synonymous single nucleotide polymorphisms of the gene encoding deoxyribonuclease I-like 3, potentially relevant to autoimmunity, produces an inactive enzyme.	11
24206041	2014	Evaluation of all non-synonymous single nucleotide polymorphisms (SNPs) in the genes encoding human deoxyribonuclease I and I-like 3 as a functional SNP potentially implicated in autoimmunity.	8
12154052	2002	The Poly(ADP-ribose) polymerase-1-regulated endonuclease DNAS1L3 is required for etoposide-induced internucleosomal DNA fragmentation and increases etoposide cytotoxicity in transfected osteosarcoma cells.	7
12943533	2003	Identification of two functional nuclear localization signals in DNase gamma and their roles in its apoptotic DNase activity.	5

Citation

Dessen P

DNASE1L3 (deoxyribonuclease 1 like 3)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/43705/dnase1l3