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DIS3L2
Identifiers
Aliases	DIS3L2, FAM6A, PRLMNS, hDIS3 like 3'-5' exoribonuclease 2
External IDs	OMIM: 614184; MGI: 2442555; HomoloGene: 62417; GeneCards: DIS3L2; OMA:DIS3L2 - orthologs
Gene location (Human) Chr. Chromosome 2 (human) Band 2q37.1 Start 231,961,245 bp End 232,344,350 bp
Gene location (Mouse) Chr. Chromosome 1 (mouse) Band 1|1 C5 Start 86,631,530 bp End 86,977,817 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in sural nerve sperm buccal mucosa cell right uterine tube right lobe of thyroid gland right testis left testis Achilles tendon left lobe of thyroid gland left ovary Top expressed in spermatid Rostral migratory stream hand spermatocyte lumbar spinal ganglion lens muscle of thigh genital tubercle lumbar subsegment of spinal cord neural tube More reference expression data BioGPS n/a
Gene ontology Molecular function 3'-5'-exoribonuclease activity poly(U) RNA binding metal ion binding ribonuclease activity protein binding RNA binding nuclease activity exonuclease activity hydrolase activity magnesium ion binding Cellular component cytoplasm polysome P-body exosome (RNase 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 population proliferation RNA phosphodiester bond hydrolysis, exonucleolytic RNA phosphodiester bond hydrolysis nuclear-transcribed mRNA catabolic process, exonucleolytic polyuridylation-dependent mRNA catabolic process mitotic cell cycle RNA catabolic process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 129563 208718 Ensembl ENSG00000144535 ENSMUSG00000053333 UniProt Q8IYB7 Q8CI75 RefSeq (mRNA) NM_001257281 NM_001257282 NM_152383 NM_001172157 NM_153530 RefSeq (protein) NP_001244210 NP_001244211 NP_689596 NP_001165628 NP_705758 Location (UCSC) Chr 2: 231.96 – 232.34 Mb Chr 1: 86.63 – 86.98 Mb PubMed search
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. 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. .

Clinical significance

Mutations in DIS3L2 cause Perlman syndrome.

References

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

Further reading

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