Gene
exosc2
- ID
- ZDB-GENE-050417-27
- Name
- exosome component 2
- Symbol
- exosc2 Nomenclature History
- Previous Names
-
- fa97b01
- wu:fa97b01
- zgc:110117
- Type
- protein_coding_gene
- Location
- Chr: 5 Mapping Details/Browsers
- Description
- Predicted to enable RNA binding activity. Acts upstream of or within neural retina development; ribonucleotide metabolic process; and spinal cord development. Predicted to be located in cytoplasm and nucleolus. Predicted to be part of cytoplasmic exosome (RNase complex) and nuclear exosome (RNase complex). Is expressed in immature eye; midbrain hindbrain boundary; and optic tectum. Human ortholog(s) of this gene implicated in short stature, hearing loss, retinitis pigmentosa, and distinctive facies. Orthologous to human EXOSC2 (exosome component 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 3 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:6903240 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- 4 figures from Yatsuka et al., 2020
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| short stature, hearing loss, retinitis pigmentosa, and distinctive facies | Alliance | Short stature, hearing loss, retinitis pigmentosa, and distinctive facies | 617763 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR004088 | K Homology domain, type 1 |
| Domain | IPR025721 | Exosome complex component, N-terminal domain |
| Domain | IPR048565 | RRP4, S1 domain |
| Family | IPR026699 | Exosome complex RNA-binding protein 1/RRP40/RRP4 |
| Homologous_superfamily | IPR012340 | Nucleic acid-binding, OB-fold |
| Homologous_superfamily | IPR036612 | K Homology domain, type 1 superfamily |
Domain Details Per Protein
| Protein | Additional Resources | Length | Exosome complex component, N-terminal domain | Exosome complex RNA-binding protein 1/RRP40/RRP4 | K Homology domain, type 1 | K Homology domain, type 1 superfamily | Nucleic acid-binding, OB-fold | RRP4, S1 domain |
|---|---|---|---|---|---|---|---|---|
| UniProtKB:F8W3K6 | InterPro | 295 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
exosc2-201
(1)
|
Ensembl | 1,032 nt | ||
| ncRNA |
exosc2-002
(1)
|
Ensembl | 782 nt |
Interactions and Pathways
No data available
Plasmids
No data available