ERI2: Exoribonuclease 2 (ERI2) Gene
ERI2 Gene - Function, Expression, and Clinical Significance
Gene Information Card
| Symbol | ERI2 |
|---|---|
| Full Name | Exoribonuclease 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 16p13.3 |
| NCBI Gene ID | 112479 ncbi.nlm.nih.gov/gene/112479 |
| Ensembl ID | ENSG00000161960 |
| UniProt ID | Q8N2Z9 |
| OMIM ID | 617596 |
| HGNC ID | 28300 |
| Aliases | ERI-2, EXOSC10, RRP6, PM-Scl100 |
Description
The ERI2 gene encodes exoribonuclease 2, a 3'-5' exoribonuclease that is a catalytic component of the RNA exosome complex. It is involved in the processing and degradation of various RNA species, including ribosomal RNA, small nuclear RNA, and messenger RNA. ERI2 plays a critical role in RNA surveillance and quality control.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary biliary cholangitis | Autoantibodies against PM/Scl complex (including ERI2) are associated with disease | PMID: 23438837 |
| Autoimmune myositis | Anti-PM/Scl antibodies target ERI2; associated with polymyositis/scleroderma overlap | PMID: 23438837 |
| Cancer (various) | Dysregulation of RNA exosome components, including ERI2, may contribute to tumorigenesis | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lymph node | 10.2 | Medium |
| Spleen | 9.8 | Medium |
| Bone marrow | 8.5 | Medium |
| Brain | 6.3 | Low |
| Heart | 5.1 | Low |
| Liver | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 | 15.3 | Leukemia cell line; high expression |
| HeLa | 12.1 | Cervical cancer cell line |
| HepG2 | 8.7 | Hepatocellular carcinoma cell line |
| A549 | 7.4 | Lung carcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Cys) | Missense | <0.01% | Unknown; potential loss of function |
| c.567_569del (p.Lys189del) | In-frame deletion | <0.01% | Unknown; may affect exosome complex assembly |
Mutation functional classification
Loss of Function (LOF)
Missense or nonsense mutations that disrupt the exoribonuclease active site or protein stability are predicted to cause loss of function.
Gain of Function (GOF)
No gain-of-function mutations have been reported for ERI2.
Dominant Negative (DN)
Mutations that impair exosome complex assembly may act in a dominant-negative manner, but evidence is limited.
View complete mutation data：
Gene Ontology (GO)
| • 3'-5' exoribonuclease activity | • RNA binding |
| • nucleic acid binding | • nuclear exosome (RNase complex) |
| • RNA processing | • rRNA processing |
| • mRNA catabolic process |
Pathways
• RNA degradation (KEGG: hsa03018)
• Exosome complex pathway
Protein Summary
Exoribonuclease 2 (ERI2) is a 100 kDa protein that functions as a 3'-5' exoribonuclease within the RNA exosome complex. It is essential for the processing of ribosomal RNA, small nuclear RNA, and the degradation of defective RNA molecules. The protein contains an RNase D domain and is localized primarily to the nucleus. Autoantibodies against ERI2 are found in patients with autoimmune diseases such as primary biliary cholangitis and polymyositis/scleroderma overlap syndrome.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ERI2 Knockout HEK293 Cell Line | EDJ-KQ7381 | Human | 112479 | Details Get a Quote |
| ERI2 Knockout A-549 Cell Line | EDJ-KQ31145 | Human | 112479 | Details Get a Quote |
| ERI2 Knockout HCT 116 Cell Line | EDJ-KQ32519 | Human | 112479 | Details Get a Quote |
| ERI2 Knockout HeLa Cell Line | EDJ-KQ32520 | Human | 112479 | Details Get a Quote |
