DIS3L2

Protein identityUniProt · HPA

UniProt accession

Q8IYB7

Gene

DIS3L2

Ensembl

ENSG00000144535

Chromosome

2

Canonical length

885 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins

OverviewNCBI 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. [provided by RefSeq, Mar 2012]

Canonical amino-acid sequenceUniProt

885 residues, UniProt reviewed canonical sequence.

>Q8IYB7|DIS3L2
     1  MSHPDYRMNL RPLGTPRGVS AVAGPHDIGA SPGDKKSKNR STRGKKKSIF ETYMSKEDVS
    61  EGLKRGTLIQ GVLRINPKKF HEAFIPSPDG DRDIFIDGVV ARNRALNGDL VVVKLLPEEH
   121  WKVVKPESND KETEAAYESD IPEELCGHHL PQQSLKSYND SPDVIVEAQF DGSDSEDGHG
   181  ITQNVLVDGV KKLSVCVSEK GREDGDAPVT KDETTCISQD TRALSEKSLQ RSAKVVYILE
   241  KKHSRAATGF LKLLADKNSE LFRKYALFSP SDHRVPRIYV PLKDCPQDFV ARPKDYANTL
   301  FICRIVDWKE DCNFALGQLA KSLGQAGEIE PETEGILTEY GVDFSDFSSE VLECLPQGLP
   361  WTIPPEEFSK RRDLRKDCIF TIDPSTARDL DDALSCKPLA DGNFKVGVHI ADVSYFVPEG
   421  SDLDKVAAER ATSVYLVQKV VPMLPRLLCE ELCSLNPMSD KLTFSVIWTL TPEGKILDEW
   481  FGRTIIRSCT KLSYEHAQSM IESPTEKIPA KELPPISPEH SSEEVHQAVL NLHGIAKQLR
   541  QQRFVDGALR LDQLKLAFTL DHETGLPQGC HIYEYRESNK LVEEFMLLAN MAVAHKIHRA
   601  FPEQALLRRH PPPQTRMLSD LVEFCDQMGL PVDFSSAGAL NKSLTQTFGD DKYSLARKEV
   661  LTNMCSRPMQ MALYFCSGLL QDPAQFRHYA LNVPLYTHFT SPIRRFADVL VHRLLAAALG
   721  YRERLDMAPD TLQKQADHCN DRRMASKRVQ ELSTSLFFAV LVKESGPLES EAMVMGILKQ
   781  AFDVLVLRYG VQKRIYCNAL ALRSHHFQKV GKKPELTLVW EPEDMEQEPA QQVITIFSLV
   841  EVVLQAESTA LKYSAILKRP GTQGHLGPEK EEEESDGEPE DSSTS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against DIS3L2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.33

Highest tissue expression

17 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about DIS3L2.

Disease | AllUniProt

Conditions DIS3L2 is implicated in, by any mechanism.

• Perlman syndrome (PRLMNS) MIM:267000

Disease | GeneticClinVar

99 pathogenic / likely-pathogenic of 2,321 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Perlman syndrome
• DIS3L2-related disorder
• Nephroblastoma
• Familial cancer of breast

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.33

gnomAD pLI

0.94

gnomAD missense Z

0.94

DepMap mean gene effect

-0.05

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• cell division
• miRNA catabolic process
• mitotic cell cycle
• mitotic sister chromatid separation
• mRNA catabolic process
• negative regulation of cell population proliferation
• nuclear-transcribed mRNA catabolic process
• polyuridylation-dependent mRNA catabolic process
• stem cell population maintenance

Molecular functions

• 3'-5'-RNA exonuclease activity
• magnesium ion binding
• poly(U) RNA binding
• RNA nuclease activity

Cellular components

• cytoplasm
• P-body

Protein domainsUniProt · Pfam · InterPro

• Ribonuclease II/R
• Nucleic acid-binding, OB-fold
• Ribonuclease II/R, conserved site
• Rrp44-like cold shock domain
• Dis3-like cold-shock domain 2
• RNR Ribonuclease
• RNB domain
• Rrp44-like cold shock domain
• Dis3-like cold-shock domain 2 (CSD2)
• DIS3-like exonuclease 2
• DIS3-like exonuclease 2-like, C-terminal
• DIS3-like exonuclease 2 C terminal

KeywordsUniProt

• Acetylation
• Cell cycle
• Cell division
• Cytoplasm
• Exonuclease
• Hydrolase
• Magnesium
• Metal-binding
• Mitosis
• Nuclease
• Phosphoprotein
• RNA-binding
• Tumor suppressor

InteractionsUniProt · HPA

Protein binding partners of DIS3L2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• XRN1