DIS3L2
DIS3 Like 3'-5' Exoribonuclease 2
Gene Information Card
| Symbol | DIS3L2 |
|---|---|
| Full Name | DIS3 Like 3'-5' Exoribonuclease 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 2q37.1 |
| NCBI Gene ID | 129563 ncbi.nlm.nih.gov/gene/129563 |
| Ensembl ID | ENSG00000164211 |
| UniProt ID | Q8IYB7 |
| OMIM ID | 614184 |
| HGNC ID | 28648 |
| Aliases | FAM118A, KIAA1726, hDIS3L2 |
Description
DIS3L2 encodes a 3'-5' exoribonuclease that degrades RNA substrates, including uridylated RNAs. It is a member of the RNase II/R family and plays a critical role in RNA surveillance and decay. Mutations in DIS3L2 are associated with Perlman syndrome and predispose to Wilms tumor.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Perlman syndrome | Loss-of-function mutations in DIS3L2 disrupt RNA degradation, leading to fetal overgrowth and predisposition to Wilms tumor. | OMIM #267000 |
| Wilms tumor (nephroblastoma) | Somatic and germline DIS3L2 mutations impair exoribonuclease activity, contributing to tumorigenesis. | PMID: 22405088, COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Kidney | 8.2 | Medium |
| Placenta | 7.1 | Medium |
| Liver | 5.3 | Low |
| Brain | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.1 | Embryonic kidney cell line |
| HeLa | 6.4 | Cervical carcinoma cell line |
| K562 | 4.9 | Leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1930C>T (p.Arg644*) | Nonsense | Rare | Loss of function; truncation of exoribonuclease domain |
| c.2563_2564del (p.Leu855fs) | Frameshift | Rare | Loss of function; premature termination |
| c.1942G>A (p.Gly648Arg) | Missense | Rare | Impaired catalytic activity |
Mutation functional classification
Loss of Function (LOF)
Most DIS3L2 mutations are loss-of-function, leading to reduced RNA degradation and accumulation of RNA substrates.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Not established; recessive inheritance pattern in Perlman syndrome.
View complete mutation data：
Gene Ontology (GO)
| • 3'-5'-exoribonuclease activity | • RNA binding |
| • cytoplasm | • nucleus |
| • RNA catabolic process | • Uridylation-dependent RNA catabolic process |
Pathways
• RNA degradation (KEGG: hsa03018)
• Uridylation-dependent RNA decay
Protein Summary
DIS3L2 is a 3'-5' exoribonuclease that processes and degrades RNA molecules, particularly those with oligo(U) tails. It localizes to both the cytoplasm and nucleus and is essential for proper RNA turnover. Loss of function leads to Perlman syndrome and increased risk of Wilms tumor.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DIS3L2 Knockout HEK293 Cell Line | EDJ-KQ8441 | Human | 129563 | 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 |
