InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: DIS3L2

Summary

InnateDB Protein

IDBP-292912.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

DIS3L2

Protein Name

DIS3 mitotic control homolog (S. cerevisiae)-like 2

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000386799

InnateDB Gene

IDBG-83173 (DIS3L2)

Protein Structure

UniProt Annotation

Function

3'-5'-exoribonuclease that specifically recognizes RNAs polyuridylated at their 3' end and mediates their degradation. Component of an exosome-independent RNA degradation pathway that mediates degradation of both mRNAs and miRNAs that have been polyuridylated by a terminal uridylyltransferase, such as ZCCHC11/TUT4. Mediates degradation of cytoplasmic mRNAs that have been deadenylated and subsequently uridylated at their 3'. Mediates degradation of uridylated pre-let-7 miRNAs, contributing to the maintenance of embryonic stem (ES) cells. Essential for correct mitosis, and negatively regulates cell proliferation. {ECO:0000255HAMAP-Rule:MF_03045, ECO:0000269PubMed:23756462}.

Subcellular Localization

Cytoplasm. Cytoplasm, P-body.

Disease Associations

Perlman syndrome (PRLMNS) [MIM:267000]: An autosomal recessive congenital overgrowth syndrome. Affected children are large at birth, are hypotonic, and show organomegaly, characteristic facial dysmorphisms (inverted V-shaped upper lip, prominent forehead, deep-set eyes, broad and flat nasal bridge, and low-set ears), renal anomalies (nephromegaly and hydronephrosis), frequent neurodevelopmental delay, and high neonatal mortality. Perlman syndrome is associated with a high risk of Wilms tumor. Histologic examination of the kidneys in affected children shows frequent nephroblastomatosis, which is a precursor lesion for Wilms tumor. {ECO:0000269PubMed:22306653}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 8 experimentally validated interaction(s) in this database.

Experimentally validated
Total	8 [view]
Protein-Protein	8 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0000175	3'-5'-exoribonuclease activity
GO:0003723	RNA binding
GO:0004540	ribonuclease activity
GO:0005515	protein binding

Biological Process

GO:0000291	nuclear-transcribed mRNA catabolic process, exonucleolytic
GO:0007067	mitotic nuclear division
GO:0008285	negative regulation of cell proliferation
GO:0010587	miRNA catabolic process
GO:0019827	stem cell maintenance
GO:0034427	nuclear-transcribed mRNA catabolic process, exonucleolytic, 3'-5'
GO:0051306	mitotic sister chromatid separation
GO:0090501	RNA phosphodiester bond hydrolysis
GO:0090503	RNA phosphodiester bond hydrolysis, exonucleolytic
GO:1990074	polyuridylation-dependent mRNA catabolic process