DNASE1 (deoxyribonuclease 1)

2011-08-01  

Identity

HGNC
DNASE1
LOCATION
16p13.3
LOCUSID
1773
ALIAS
DNL1,DRNI
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 1773
MIM: 125505
HGNC: 2956
Ensembl: ENSG00000213918

Variants:

dbSNP: 1773
ClinVar: 1773
TCGA: ENSG00000213918
COSMIC: DNASE1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000213918ENST00000246949P24855
ENSG00000213918ENST00000407479P24855
ENSG00000213918ENST00000570376I3L530
ENSG00000213918ENST00000570664I3L298
ENSG00000213918ENST00000570769I3L0Z9
ENSG00000213918ENST00000570807I3L1N2
ENSG00000213918ENST00000571460I3L530
ENSG00000213918ENST00000572237I3L4U3
ENSG00000213918ENST00000575479I3L4C7
ENSG00000213918ENST00000576050I3L530
ENSG00000213918ENST00000576792I3L4B8

Expression (GTEx)

0
5
10
15
20
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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
204397452010Impairment of neutrophil extracellular trap degradation is associated with lupus nephritis.379
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
151883642004Chromatin breakdown during necrosis by serum Dnase1 and the plasminogen system.28
193627002009Regulation of the cytosolic DNA-sensing system in innate immunity: a current view.25
208568932010Renal Dnase1 enzyme activity and protein expression is selectively shut down in murine and human membranoproliferative lupus nephritis.21
181742302008Association of polymorphisms in complement component C3 gene with susceptibility to systemic lupus erythematosus.18
163524562006Systemic lupus-erythematosus: deoxyribonuclease 1 in necrotic chromatin disposal.15
193183942009DNase 1 activity in patients with systemic lupus erythematosus: relationship with epidemiological, clinical, immunological and therapeutical features.15
231837582013Serum DNase I activity in systemic lupus erythematosus: correlation with immunoserological markers, the disease activity and organ involvement.14
208006032010Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.12

Citation

Dessen P

DNASE1 (deoxyribonuclease 1)

Atlas Genet Cytogenet Oncol Haematol. 2011-08-01

Online version: http://atlasgeneticsoncology.org/gene/43229/dnase1