DIS3L2 Chromosome 2
DIS3 like 3'-5' exoribonuclease 2
Upload your DNA to see your personal genotypes for variants in DIS3L2.
What This Gene Does
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]
Gene Info
Gene Group
MicroRNA protein coding host genes
Locus Type
gene with protein product
Location
2q37.1
Ensembl
ENSG00000144535
Associated Conditions (7)
Perlman syndrome
Sarcoma
Cervical cancer
DIS3L2-related disorder
Inborn genetic diseases
Nephroblastoma
Familial cancer of breast
Key Variants
RS114804860
Conflicting classifications of pathogenicity
Perlman syndrome, Sarcoma, Cervical cancer
Health Risk
RS116327839
Conflicting classifications of pathogenicity
Perlman syndrome, Perlman syndrome
Health Risk
RS1283433476
Conflicting classifications of pathogenicity
Perlman syndrome, Perlman syndrome
Health Risk
RS141560952
Conflicting classifications of pathogenicity
Perlman syndrome, DIS3L2-related disorder, Perlman syndrome
Health Risk
RS143680532
Conflicting classifications of pathogenicity
Perlman syndrome, Perlman syndrome
Health Risk
RS148106618
Conflicting classifications of pathogenicity
Perlman syndrome, Perlman syndrome
Health Risk
RS1489037110
Conflicting classifications of pathogenicity
Perlman syndrome, Perlman syndrome
Health Risk
RS186340144
Conflicting classifications of pathogenicity
Perlman syndrome, DIS3L2-related disorder, Perlman syndrome
Health Risk
RS186865544
Conflicting classifications of pathogenicity
Perlman syndrome, DIS3L2-related disorder, Perlman syndrome
Health Risk
RS187563594
Conflicting classifications of pathogenicity
Perlman syndrome, DIS3L2-related disorder, Perlman syndrome
Health Risk
RS187677159
Conflicting classifications of pathogenicity
Perlman syndrome, Perlman syndrome
Health Risk
RS191608083
Conflicting classifications of pathogenicity
Perlman syndrome, Inborn genetic diseases, Perlman syndrome
Health Risk
All Variants (142)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1696704929 | Health Risk | Pathogenic | Perlman syndrome, Perlman syndrome |
| RS1696706093 | Health Risk | Pathogenic | Perlman syndrome, Perlman syndrome |
| RS201308521 | Health Risk | Pathogenic | Perlman syndrome, Perlman syndrome |
| RS2106221588 | Health Risk | Pathogenic | Perlman syndrome, Perlman syndrome |
| RS2106232915 | Health Risk | Pathogenic | Perlman syndrome, Perlman syndrome |
| RS2106239691 | Health Risk | Pathogenic | Perlman syndrome, Perlman syndrome |
| RS2106239900 | Health Risk | Pathogenic | Perlman syndrome, Perlman syndrome |
| RS2106264887 | Health Risk | Pathogenic | Perlman syndrome, Perlman syndrome |
| RS2106281153 | Health Risk | Pathogenic | Perlman syndrome, Perlman syndrome, Perlman syndrome |
| RS2106309194 | Health Risk | Pathogenic | Perlman syndrome, Perlman syndrome |
| RS2106309216 | Health Risk | Pathogenic | Perlman syndrome, Perlman syndrome |
| RS2106348112 | Health Risk | Pathogenic | Perlman syndrome, Perlman syndrome |
| RS2106348160 | Health Risk | Pathogenic | Perlman syndrome, Perlman syndrome |
| RS2106353572 | Health Risk | Pathogenic | Perlman syndrome, Perlman syndrome |
| RS2106354296 | Health Risk | Pathogenic | Perlman syndrome, Perlman syndrome |
| RS2469611960 | Health Risk | Pathogenic | Perlman syndrome, Perlman syndrome |
| RS2469749590 | Health Risk | Pathogenic | Perlman syndrome, Perlman syndrome |
| RS2469848385 | Health Risk | Pathogenic | Perlman syndrome, Perlman syndrome |
| RS2469848433 | Health Risk | Pathogenic | Perlman syndrome, Perlman syndrome |
| RS2469848450 | Health Risk | Pathogenic | Perlman syndrome, Perlman syndrome |
| RS2469848634 | Health Risk | Pathogenic | Perlman syndrome, Perlman syndrome |
| RS2469848763 | Health Risk | Pathogenic | Perlman syndrome, Perlman syndrome |
| RS2469895386 | Health Risk | Pathogenic | Perlman syndrome, Perlman syndrome |
| RS2469982239 | Health Risk | Pathogenic | Perlman syndrome, Perlman syndrome |
| RS2469982350 | Health Risk | Pathogenic | Perlman syndrome, Perlman syndrome |
| RS2470049272 | Health Risk | Pathogenic | Perlman syndrome, Perlman syndrome |
| RS376019404 | Health Risk | Pathogenic | Perlman syndrome, Perlman syndrome |
| RS747734015 | Health Risk | Pathogenic | Perlman syndrome, Perlman syndrome |
| RS748001988 | Health Risk | Pathogenic | Perlman syndrome, Perlman syndrome |
| RS772157269 | Health Risk | Pathogenic | Perlman syndrome, Perlman syndrome |
| RS781163337 | Health Risk | Pathogenic | Perlman syndrome, Perlman syndrome |
| RS878855224 | Health Risk | Pathogenic | Perlman syndrome, Perlman syndrome |
| RS1328362747 | Health Risk | Pathogenic/Likely pathogenic | Perlman syndrome, DIS3L2-related disorder, Perlman syndrome |
| RS1395962146 | Health Risk | Pathogenic/Likely pathogenic | Perlman syndrome, Perlman syndrome |
| RS1441475659 | Health Risk | Pathogenic/Likely pathogenic | Perlman syndrome, Perlman syndrome |
| RS1559220022 | Health Risk | Pathogenic/Likely pathogenic | Perlman syndrome, Perlman syndrome |
| RS199648534 | Health Risk | Pathogenic/Likely pathogenic | Perlman syndrome, DIS3L2-related disorder, Perlman syndrome |
| RS2106220804 | Health Risk | Pathogenic/Likely pathogenic | Perlman syndrome, Perlman syndrome |
| RS760123810 | Health Risk | Pathogenic/Likely pathogenic | Perlman syndrome, Perlman syndrome |
| RS762653147 | Health Risk | Pathogenic/Likely pathogenic | Perlman syndrome, Perlman syndrome |
| RS766629924 | Health Risk | Pathogenic/Likely pathogenic | Perlman syndrome, Perlman syndrome |
| RS773260717 | Health Risk | Pathogenic/Likely pathogenic | Perlman syndrome, Perlman syndrome |