DIS3L2 (DIS3 like 3-5 exoribonuclease 2)

2012-04-01  

Identity

HGNC
DIS3L2
LOCATION
2q37.1
LOCUSID
129563
ALIAS
FAM6A,PRLMNS,hDIS3L2
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 129563
MIM: 614184
HGNC: 28648
Ensembl: ENSG00000144535

Variants:

dbSNP: 129563
ClinVar: 129563
TCGA: ENSG00000144535
COSMIC: DIS3L2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000144535ENST00000273009Q8IYB7
ENSG00000144535ENST00000325385Q8IYB7
ENSG00000144535ENST00000390005Q8IYB7
ENSG00000144535ENST00000409307Q8IYB7
ENSG00000144535ENST00000409401Q8IYB7
ENSG00000144535ENST00000417808H7C302
ENSG00000144535ENST00000418143H7C1Q8
ENSG00000144535ENST00000424049H7C440
ENSG00000144535ENST00000433430Q8IYB7
ENSG00000144535ENST00000434477H7C036
ENSG00000144535ENST00000441279C9JGP4
ENSG00000144535ENST00000445090Q8IYB7

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
223066532012Germline mutations in DIS3L2 cause the Perlman syndrome of overgrowth and Wilms tumor susceptibility.81
241416202013Mammalian DIS3L2 exoribonuclease targets the uridylated precursors of let-7 miRNAs.69
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
268096752016Identification of factors involved in target RNA-directed microRNA degradation.34
276478752016TUT-DIS3L2 is a mammalian surveillance pathway for aberrant structured non-coding RNAs.33
274313252016Perlman syndrome nuclease DIS3L2 controls cytoplasmic non-coding RNAs and provides surveillance pathway for maturing snRNAs.32
236134272013Perlman syndrome: overgrowth, Wilms tumor predisposition and DIS3L2.12
278814762017Lin28a uses distinct mechanisms of binding to RNA and affects miRNA levels positively and negatively.12
279117202016The roles of the exoribonucleases DIS3L2 and XRN1 in human disease.10
291008042018Immunohistochemical localization of exoribonucleases (DIS3L2 and XRN1) in intranuclear inclusion body disease.4

Citation

Dessen P

DIS3L2 (DIS3 like 3-5 exoribonuclease 2)

Atlas Genet Cytogenet Oncol Haematol. 2012-04-01

Online version: http://atlasgeneticsoncology.org/gene/52692/dis3l2