Jump to content

DIS3L2

From Wikipedia, the free encyclopedia
DIS3L2
Identifiers
AliasesDIS3L2, FAM6A, PRLMNS, hDIS3 like 3'-5' exoribonuclease 2
External IDsOMIM: 614184; MGI: 2442555; HomoloGene: 62417; GeneCards: DIS3L2; OMA:DIS3L2 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
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 MbChr 1: 86.63 – 86.98 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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

[edit]

Mutations in DIS3L2 cause Perlman syndrome.[6]

References

[edit]
  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000144535Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000053333Ensembl, 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

[edit]