DIS3L2

The protein encoded by this gene is similar in sequence to 3'/5' exonucleolytic subunits of the RNA exosome. The exosome is a large multimeric ribonucleotide complex responsible for degrading various RNA substrates. Several transcript variants, some protein-coding and some not, have been found for this gene.

Full Name

DIS3 LIKE 3'-5' EXORIBONUCLEASE 2

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.

Biological Process

Cell division Source: UniProtKB-KW
miRNA catabolic process Source: UniProtKB
Mitotic cell cycle Source: UniProtKB
Mitotic sister chromatid separation Source: UniProtKB
mRNA catabolic process Source: GO_Central
Negative regulation of cell population proliferation Source: UniProtKB
Nuclear-transcribed mRNA catabolic process, exonucleolytic Source: UniProtKB
Nuclear-transcribed mRNA catabolic process, exonucleolytic, 3'-5' Source: InterPro
Polyuridylation-dependent mRNA catabolic process Source: UniProtKB
Stem cell population maintenance Source: UniProtKB

Cellular Location

Cytoplasm; P-body

Involvement in disease

Perlman syndrome (PRLMNS):
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.