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Aliases for DIS3L2 Gene

Aliases for DIS3L2 Gene

  • DIS3 Like 3'-5' Exoribonuclease 2 2
  • DIS3 Like 3-5 Exoribonuclease 2 2 3 5
  • Family With Sequence Similarity 6, Member A 2 3
  • HDIS3L2 3 4
  • FAM6A 3 4
  • DIS3 Mitotic Control Homolog (S. Cerevisiae)-Like 2 2
  • DIS3 Mitotic Control Homolog-Like 2 3
  • EC 3.1.13.- 4
  • EC 3.1.13 63
  • PRLMNS 3

External Ids for DIS3L2 Gene

Previous HGNC Symbols for DIS3L2 Gene

  • FAM6A

Previous GeneCards Identifiers for DIS3L2 Gene

  • GC02P232537
  • GC02P232825
  • GC02P224677

Summaries for DIS3L2 Gene

Entrez Gene Summary for 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. [provided by RefSeq, Mar 2012]

GeneCards Summary for DIS3L2 Gene

DIS3L2 (DIS3 Like 3'-5' Exoribonuclease 2) is a Protein Coding gene. Diseases associated with DIS3L2 include Perlman Syndrome and Wilms Tumor Susceptibility-5. GO annotations related to this gene include magnesium ion binding and 3-5-exoribonuclease activity. An important paralog of this gene is DIS3L.

UniProtKB/Swiss-Prot for DIS3L2 Gene

  • 3-5-exoribonuclease that specifically recognizes RNAs polyuridylated at their 3 end and mediates their degradation. Component of an exosome-independent RNA degradation pathway that mediates degradation of both mRNAs and miRNAs that have been polyuridylated by a terminal uridylyltransferase, such as ZCCHC11/TUT4. Mediates degradation of cytoplasmic mRNAs that have been deadenylated and subsequently uridylated at their 3. Mediates degradation of uridylated pre-let-7 miRNAs, contributing to the maintenance of embryonic stem (ES) cells. Essential for correct mitosis, and negatively regulates cell proliferation.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DIS3L2 Gene

Genomics for DIS3L2 Gene

Regulatory Elements for DIS3L2 Gene

Enhancers for DIS3L2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around DIS3L2 on UCSC Golden Path with GeneCards custom track

Promoters for DIS3L2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around DIS3L2 on UCSC Golden Path with GeneCards custom track

Genomic Location for DIS3L2 Gene

Chromosome:
2
Start:
231,961,245 bp from pter
End:
232,344,350 bp from pter
Size:
383,106 bases
Orientation:
Plus strand

Genomic View for DIS3L2 Gene

Genes around DIS3L2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DIS3L2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DIS3L2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DIS3L2 Gene

Proteins for DIS3L2 Gene

  • Protein details for DIS3L2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IYB7-DI3L2_HUMAN
    Recommended name:
    DIS3-like exonuclease 2
    Protein Accession:
    Q8IYB7
    Secondary Accessions:
    • Q53S79
    • Q580W6
    • Q5XKH0
    • Q69YG5
    • Q6AW99
    • Q7Z4T6
    • Q8N9K9

    Protein attributes for DIS3L2 Gene

    Size:
    885 amino acids
    Molecular mass:
    99279 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for DIS3L2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DIS3L2 Gene

Proteomics data for DIS3L2 Gene at MOPED

Selected DME Specific Peptides for DIS3L2 Gene

Post-translational modifications for DIS3L2 Gene

  • Ubiquitination at Lys 596 and Lys 652
  • Modification sites at PhosphoSitePlus

Antibody Products

Domains & Families for DIS3L2 Gene

Protein Domains for DIS3L2 Gene

Suggested Antigen Peptide Sequences for DIS3L2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8IYB7

UniProtKB/Swiss-Prot:

DI3L2_HUMAN :
  • Specifically recognizes and binds polyuridylated RNAs via 3 RNA-binding regions (named U-zone 1, U-zone 2 and U-zone 3) that form an open funnel on one face of the catalytic domain, allowing RNA to navigate a path to the active site.
  • Belongs to the RNR ribonuclease family. DIS3L2 subfamily.
Domain:
  • Specifically recognizes and binds polyuridylated RNAs via 3 RNA-binding regions (named U-zone 1, U-zone 2 and U-zone 3) that form an open funnel on one face of the catalytic domain, allowing RNA to navigate a path to the active site.
Family:
  • Belongs to the RNR ribonuclease family. DIS3L2 subfamily.
genes like me logo Genes that share domains with DIS3L2: view

No data available for Gene Families for DIS3L2 Gene

Function for DIS3L2 Gene

Molecular function for DIS3L2 Gene

UniProtKB/Swiss-Prot Function:
3-5-exoribonuclease that specifically recognizes RNAs polyuridylated at their 3 end and mediates their degradation. Component of an exosome-independent RNA degradation pathway that mediates degradation of both mRNAs and miRNAs that have been polyuridylated by a terminal uridylyltransferase, such as ZCCHC11/TUT4. Mediates degradation of cytoplasmic mRNAs that have been deadenylated and subsequently uridylated at their 3. Mediates degradation of uridylated pre-let-7 miRNAs, contributing to the maintenance of embryonic stem (ES) cells. Essential for correct mitosis, and negatively regulates cell proliferation.

Enzyme Numbers (IUBMB) for DIS3L2 Gene

Gene Ontology (GO) - Molecular Function for DIS3L2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000287 magnesium ion binding IEA,IDA 24141620
genes like me logo Genes that share ontologies with DIS3L2: view

Phenotypes for DIS3L2 Gene

GenomeRNAi human phenotypes for DIS3L2:
genes like me logo Genes that share phenotypes with DIS3L2: view

Human Phenotype Ontology for DIS3L2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for DIS3L2 Gene

miRTarBase miRNAs that target DIS3L2

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for DIS3L2 Gene

Localization for DIS3L2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DIS3L2 Gene

Cytoplasm. Cytoplasm, P-body.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for DIS3L2 Gene COMPARTMENTS Subcellular localization image for DIS3L2 gene
Compartment Confidence
cytosol 2
nucleus 2
extracellular 1

Gene Ontology (GO) - Cellular Components for DIS3L2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000176 nuclear exosome (RNase complex) IBA --
GO:0005844 polysome TAS 23756462
genes like me logo Genes that share ontologies with DIS3L2: view

Pathways & Interactions for DIS3L2 Gene

SuperPathways for DIS3L2 Gene

No Data Available

Interacting Proteins for DIS3L2 Gene

Gene Ontology (GO) - Biological Process for DIS3L2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000291 nuclear-transcribed mRNA catabolic process, exonucleolytic IMP 23756462
GO:0006364 rRNA processing IBA --
GO:0008285 negative regulation of cell proliferation IMP 22306653
GO:0016075 rRNA catabolic process IBA --
GO:0051306 mitotic sister chromatid separation IMP 22306653
genes like me logo Genes that share ontologies with DIS3L2: view

No data available for Pathways by source and SIGNOR curated interactions for DIS3L2 Gene

Drugs & Compounds for DIS3L2 Gene

No Compound Related Data Available

Transcripts for DIS3L2 Gene

Unigene Clusters for DIS3L2 Gene

DIS3 mitotic control homolog (S. cerevisiae)-like 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for DIS3L2 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18a · 18b ^ 19a · 19b ^ 20
SP1: - - - - - - - - -
SP2:
SP3: -
SP4:

Relevant External Links for DIS3L2 Gene

GeneLoc Exon Structure for
DIS3L2
ECgene alternative splicing isoforms for
DIS3L2

Expression for DIS3L2 Gene

mRNA expression in normal human tissues for DIS3L2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for DIS3L2 Gene

This gene is overexpressed in Fetal Brain (13.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for DIS3L2 Gene



SOURCE GeneReport for Unigene cluster for DIS3L2 Gene Hs.732236

genes like me logo Genes that share expression patterns with DIS3L2: view

Protein tissue co-expression partners for DIS3L2 Gene

- Elite partner

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for DIS3L2 Gene

Orthologs for DIS3L2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for DIS3L2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia DIS3L2 35
  • 88.63 (n)
  • 89.78 (a)
DIS3L2 36
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DIS3L2 35
  • 90.37 (n)
  • 90.83 (a)
DIS3L2 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dis3l2 35
  • 86.76 (n)
  • 87.46 (a)
Dis3l2 16
Dis3l2 36
  • 86 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia DIS3L2 35
  • 99.54 (n)
  • 99.54 (a)
DIS3L2 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dis3l2 35
  • 86.24 (n)
  • 87.75 (a)
oppossum
(Monodelphis domestica)
Mammalia DIS3L2 36
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 82 (a)
OneToMany
-- 36
  • 62 (a)
OneToMany
chicken
(Gallus gallus)
Aves DIS3L2 35
  • 72.77 (n)
  • 72.61 (a)
DIS3L2 36
  • 71 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DIS3L2 36
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dis3l2 35
  • 67.47 (n)
  • 69.21 (a)
Str.6867 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.25728 35
zebrafish
(Danio rerio)
Actinopterygii LOC566106 35
  • 66.06 (n)
  • 67.44 (a)
wufi24g12 35
dis3l2 36
  • 53 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG16940 36
  • 27 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea F48E8.6 35
  • 50.94 (n)
  • 44.52 (a)
F48E8.6 36
  • 40 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes DIS3 36
  • 23 (a)
OneToMany
DSS1 38
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G77680 35
  • 48.15 (n)
  • 40.22 (a)
rice
(Oryza sativa)
Liliopsida Os02g0754100 35
  • 44.84 (n)
  • 36.33 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4876 35
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC2C4.07c 35
  • 48.27 (n)
  • 42.23 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5449 36
  • 45 (a)
OneToOne
Species with no ortholog for DIS3L2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for DIS3L2 Gene

ENSEMBL:
Gene Tree for DIS3L2 (if available)
TreeFam:
Gene Tree for DIS3L2 (if available)

Paralogs for DIS3L2 Gene

Paralogs for DIS3L2 Gene

(1) SIMAP similar genes for DIS3L2 Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with DIS3L2: view

Variants for DIS3L2 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for DIS3L2 Gene

DI3L2_HUMAN-Q8IYB7
Disrupted by a t(2;7)(q37.1;q21.3) chromosomal translocation found in a patient suffering from Marfanoid habitus and skeletal anomalies. However, its absence does not seem to be the cause of the disease.

Sequence variations from dbSNP and Humsavar for DIS3L2 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs723044 - 232,014,961(+) TCCGG(A/C/T)CCCTG nc-transcript-variant, reference, missense
rs186865544 - 232,263,228(+) TTGGC(C/G/T)GGACC nc-transcript-variant, reference, missense
VAR_067578 Perlman syndrome (PRLMNS)
VAR_067579 -
rs720734 -- 232,273,070(+) TGTGA(A/C)CTTCT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for DIS3L2 Gene

Variant ID Type Subtype PubMed ID
dgv1292e1 CNV Complex 17122850
nsv428408 CNV Gain+Loss 18775914
dgv1293e1 CNV Complex 17122850
essv10235 CNV CNV 17122850
esv2671155 CNV Deletion 23128226
nsv527152 CNV Gain 19592680
nsv3208 CNV Loss 18451855
nsv517411 CNV Gain 19592680
esv2483533 CNV Deletion 19546169
dgv767e199 CNV Deletion 23128226
nsv875970 CNV Loss 21882294
nsv3209 CNV Loss 18451855
esv2072026 CNV Deletion 18987734
esv7611 CNV Gain 19470904
esv1000331 CNV Insertion 20482838
nsv213397 CNV Insertion 16902084
nsv875971 CNV Loss 21882294
nsv522450 CNV Loss 19592680
esv34493 CNV Gain 17911159
dgv4448n71 CNV Loss 21882294
nsv821918 CNV Gain 20364138
nsv875977 CNV Loss 21882294
dgv675e201 CNV Deletion 23290073
dgv4449n71 CNV Gain 21882294
esv2721625 CNV Deletion 23290073
esv2314532 CNV Deletion 18987734
nsv875979 CNV Gain 21882294

Variation tolerance for DIS3L2 Gene

Residual Variation Intolerance Score: 22.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.63; 65.57% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DIS3L2 Gene

Human Gene Mutation Database (HGMD)
DIS3L2

Disorders for DIS3L2 Gene

MalaCards: The human disease database

(4) MalaCards diseases for DIS3L2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
perlman syndrome
  • nephroblastomatosis - fetal ascites - macrosomia - wilms tumor
wilms tumor susceptibility-5
  • wilms tumor
hydronephrosis
polyradiculopathy
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

DI3L2_HUMAN
  • Perlman syndrome (PRLMNS) [MIM:267000]: 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. {ECO:0000269 PubMed:22306653, ECO:0000269 PubMed:23486540, ECO:0000269 PubMed:23576526}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for DIS3L2

Genetic Association Database (GAD)
DIS3L2
Human Genome Epidemiology (HuGE) Navigator
DIS3L2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DIS3L2
genes like me logo Genes that share disorders with DIS3L2: view

No data available for Genatlas for DIS3L2 Gene

Publications for DIS3L2 Gene

  1. Germline mutations in DIS3L2 cause the Perlman syndrome of overgrowth and Wilms tumor susceptibility. (PMID: 22306653) Astuti D. … Maher E.R. (Nat. Genet. 2012) 2 3 4 67
  2. The exoribonuclease Dis3L2 defines a novel eukaryotic RNA degradation pathway. (PMID: 23503588) Malecki M. … Arraiano C.M. (EMBO J. 2013) 2 3
  3. Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci. (PMID: 25429064) He M. … Qi L. (Hum. Mol. Genet. 2015) 3
  4. Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. (PMID: 25921289) Emdal K.B. … Olsen J.V. (Sci Signal 2015) 3
  5. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3

Products for DIS3L2 Gene

Sources for DIS3L2 Gene

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