DIS3L2

DIS3L2
Identifiers
Aliases	DIS3L2, FAM6A, PRLMNS, hDIS3 like 3'-5' exoribonuclease 2
External IDs	OMIM: 614184 MGI: 2442555 HomoloGene: 62417 GeneCards: DIS3L2
Gene location (Human)
Chr.	Chromosome 2 (human)[1]
End	232,344,350 bp[1]
Gene location (Mouse)
Chr.	Chromosome 1 (mouse)[2]
End	87,050,095 bp[2]
Gene ontology
Molecular function	• 3'-5'-exoribonuclease activity; • poly(U) RNA binding; • metal ion binding; • ribonuclease activity; • GO:0001948 protein binding; • RNA binding; • nuclease activity; • exonuclease activity; • hydrolase activity; • magnesium ion binding;
Cellular component	• cytoplasm; • polysome; • P-body; • exosome complex;
Biological process	• miRNA catabolic process; • nucleic acid phosphodiester bond hydrolysis; • nuclear-transcribed mRNA catabolic process, exonucleolytic, 3'-5'; • cell division; • stem cell population maintenance; • rRNA processing; • cell cycle; • mitotic sister chromatid separation; • negative regulation of cell proliferation; • RNA phosphodiester bond hydrolysis, exonucleolytic; • RNA phosphodiester bond hydrolysis; • nuclear-transcribed mRNA catabolic process, exonucleolytic; • polyuridylation-dependent mRNA catabolic process; • GO:0007067 mitotic cell cycle; • RNA catabolic process;
	Sources:Amigo / QuickGO
Orthologs
	129563
	208718
	ENSG00000144535
	ENSMUSG00000053333
	Q8IYB7
	Q8CI75
	NM_001257281; NM_001257282; NM_152383
	NM_001172157; NM_153530
	NP_001244210; NP_001244211; NP_689596
	NP_001165628; NP_705758
	Wikidata
View/Edit Human	View/Edit Mouse

DIS3 mitotic control homolog (S. cerevisiae)-like 2 is a protein in humans that is encoded by the DIS3L2 gene.[5] 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].

Clinical significance

Mutations in DIS3L2 cause Perlman syndrome.[6]

References

GRCh38: Ensembl release 89: ENSG00000144535 - Ensembl, May 2017
GRCm38: Ensembl release 89: ENSMUSG00000053333 - Ensembl, May 2017
"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
"Entrez Gene: DIS3 mitotic control homolog (S. cerevisiae)-like 2". Retrieved 2013-03-10.
"OMIM Entry - # 267000 - PERLMAN SYNDROME; PRLMNS". www.omim.org. Retrieved 2020-01-25.

DIS3L2

Clinical significance

References

Further reading