DIS3L: DIS3 Like 3'-5' Exoribonuclease - Gene, Function, and Disease Associations
A comprehensive overview of the DIS3L gene, including its genomic context, protein function, expression patterns, and clinical relevance.
Gene Information Card
| Symbol | DIS3L |
|---|---|
| Full Name | DIS3 like 3'-5' exoribonuclease |
| Gene Type | protein-coding |
| Chromosomal Location | 15q22.31 |
| NCBI Gene ID | 115752 ncbi.nlm.nih.gov/gene/115752 |
| Ensembl ID | ENSG00000166922 |
| UniProt ID | Q8TF46 |
| OMIM ID | 614184 |
| HGNC ID | 20313 |
| Aliases | DIS3L1, FLJ12914 |
Description
DIS3L (DIS3 like 3'-5' exoribonuclease) is a protein-coding gene located on chromosome 15q22.31. It encodes a catalytic component of the RNA exosome complex, which is responsible for 3' to 5' exoribonucleolytic degradation of various RNA species, including mRNA, rRNA, and non-coding RNAs. DIS3L is involved in RNA processing, surveillance, and degradation, playing a critical role in post-transcriptional gene regulation. Mutations and altered expression of DIS3L have been implicated in cancer and other diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered expression or mutations may disrupt RNA degradation, leading to aberrant gene expression and tumorigenesis. | COSMIC database lists DIS3L mutations in multiple cancer types; ClinVar reports variants associated with conditions. |
| Immunodeficiency | Loss-of-function mutations may impair immune cell function due to defective RNA processing. | ClinVar and literature suggest potential links, though evidence is limited. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.4 | Medium |
| Spleen | 10.1 | Medium |
| Lymph node | 9.8 | Medium |
| Bone marrow | 8.5 | Low |
| Brain | 6.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 | 15.3 | High expression in leukemia cell line |
| HeLa | 12.0 | Moderate expression |
| A549 | 9.5 | Low expression |
| HepG2 | 8.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234A>G (p.Thr412Ala) | Missense | 0.01% (gnomAD) | Likely benign; no known functional impact. |
| c.456C>T (p.Arg152Ter) | Nonsense | Rare | Loss-of-function; may lead to reduced exoribonuclease activity. |
| c.789_790del (p.Glu264fs) | Frameshift | Rare | Loss-of-function; predicted to cause protein truncation. |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in DIS3L, such as nonsense or frameshift variants, are expected to reduce or abolish exoribonuclease activity, impairing RNA degradation and potentially contributing to disease phenotypes.
Gain of Function (GOF)
No evidence of gain-of-function mutations in DIS3L has been reported to date.
Dominant Negative (DN)
Dominant-negative effects have not been established for DIS3L mutations; however, some missense variants could potentially interfere with exosome complex assembly, but this remains speculative.
View complete mutation data：
Gene Ontology (GO)
| • 3'-5'-exoribonuclease activity | • RNA binding |
| • nucleic acid binding | • exoribonuclease activity |
| • RNA exosome complex | • cytoplasm |
| • nucleus | • RNA catabolic process |
| • rRNA processing | • mRNA catabolic process |
Pathways
• RNA degradation (KEGG: hsa03018)
• mRNA surveillance pathway (KEGG: hsa03015)
• Exosome-mediated RNA degradation
Protein Summary
The DIS3L protein is a 3'-5' exoribonuclease that is a core component of the RNA exosome complex. It contains an RNase II-like domain and a S1 RNA-binding domain. DIS3L localizes predominantly to the cytoplasm, where it degrades RNA substrates, while its paralog DIS3 is nuclear. The protein is involved in the degradation of mRNA, rRNA, and non-coding RNAs, playing a key role in RNA quality control and turnover. Its activity is essential for proper gene expression regulation and cellular homeostasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DIS3L Knockout HEK293 Cell Line | EDJ-KQ7531 | Human | 115752 | Details Get a Quote |
| DIS3L2 Knockout HEK293 Cell Line | EDJ-KQ8441 | Human | 129563 | Details Get a Quote |
| DIS3L Knockout HCT 116 Cell Line | EDJ-KQ31464 | Human | 115752 | Details Get a Quote |
| DIS3L Knockout A-549 Cell Line | EDJ-KQ32816 | Human | 115752 | Details Get a Quote |
| DIS3L Knockout HeLa Cell Line | EDJ-KQ32818 | Human | 115752 | Details Get a Quote |
| DIS3L2 Knockout A-549 Cell Line | EDJ-KQ35788 | Human | 129563 | Details Get a Quote |
| DIS3L2 Knockout HCT 116 Cell Line | EDJ-KQ35790 | Human | 129563 | Details Get a Quote |
| DIS3L2 Knockout HeLa Cell Line | EDJ-KQ35791 | Human | 129563 | Details Get a Quote |
| DIS3L2 (p.N529=) Point Mutation in HAP1 Cell Line | EDC03450 | Human | 129563 | Details Get a Quote |
