| UniProt Protein Function: | DIS3L2: Ribonuclease that plays a critical role in RNA metabolism. It is essential for correct mitosis, and negatively regulates cell proliferation. Defects in DIS3L2 are the cause of 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. Belongs to the RNR ribonuclease family. 5 isoforms of the human protein are produced by alternative splicing.Protein type: EC 3.1.13.-; Ribonuclease; Tumor suppressorChromosomal Location of Human Ortholog: 2q37.1Cellular Component: cytoplasm; nuclear exosome (RNase complex); polysomeMolecular Function: 3'-5'-exoribonuclease activity; magnesium ion binding; poly(U) binding; protein binding; ribonuclease activityBiological Process: cell division; mitosis; mitotic sister chromatid separation; mRNA catabolic process, exonucleolytic; negative regulation of cell proliferation; rRNA catabolic process; rRNA processing; stem cell maintenanceDisease: Perlman Syndrome |
| UniProt Protein Details: | |
| NCBI Summary: | 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. [provided by RefSeq, Mar 2012] |
| UniProt Code: | Q8IYB7 |
| NCBI GenInfo Identifier: | 134288890 |
| NCBI Gene ID: | 129563 |
| NCBI Accession: | NP_689596 |
| UniProt Secondary Accession: | Q8IYB7,Q53S79, Q580W6, Q5XKH0, Q69YG5, Q6AW99, Q7Z4T6 Q8N9K9 |
| UniProt Related Accession: | Q8IYB7 |
| Molecular Weight: | Predicted: 97 kDaObserved: 94 kDa |
| NCBI Full Name: | DIS3-like exonuclease 2 isoform 1 |
| NCBI Synonym Full Names: | DIS3 like 3'-5' exoribonuclease 2 |
| NCBI Official Symbol: | DIS3L2 |
| NCBI Official Synonym Symbols: | FAM6A; PRLMNS; hDIS3L2 |
| NCBI Protein Information: | DIS3-like exonuclease 2 |
| UniProt Protein Name: | DIS3-like exonuclease 2 |
| UniProt Synonym Protein Names: | |
| Protein Family: | DIS3-like exonuclease |
| UniProt Gene Name: | DIS3L2 |
| UniProt Entry Name: | DI3L2_HUMAN |
