Gene
polg2
- ID
- ZDB-GENE-060810-116
- Name
- polymerase (DNA directed), gamma 2, accessory subunit
- Symbol
- polg2 Nomenclature History
- Previous Names
-
- im:7158733 (1)
- si:ch211-157f15.3
- Type
- protein_coding_gene
- Location
- Chr: 6 Mapping Details/Browsers
- Description
- Predicted to be involved in mitochondrial DNA replication. Predicted to act upstream of or within DNA repair and DNA replication. Predicted to be active in mitochondrion. Is expressed in retina. Human ortholog(s) of this gene implicated in autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4 and mitochondrial DNA depletion syndrome. Orthologous to human POLG2 (DNA polymerase gamma 2, accessory subunit).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 4 figures from 4 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7158733 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4 | Alliance | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 | 610131 |
| mitochondrial DNA depletion syndrome 16 | Alliance | ?Mitochondrial DNA depletion syndrome 16 (hepatic type) | 618528 |
| mitochondrial DNA depletion syndrome 16B | Alliance | ?Mitochondrial DNA depletion syndrome 16B (neuroophthalmic type) | 619425 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR004154 | Anticodon-binding |
| Family | IPR027031 | Glycyl-tRNA synthetase/DNA polymerase subunit gamma-2 |
| Homologous_superfamily | IPR036621 | Anticodon-binding domain superfamily |
| Homologous_superfamily | IPR045864 | Class II Aminoacyl-tRNA synthetase/Biotinyl protein ligase (BPL) and lipoyl protein ligase (LPL) |
Domain Details Per Protein
| Protein | Length | Anticodon-binding | Anticodon-binding domain superfamily | Class II Aminoacyl-tRNA synthetase/Biotinyl protein ligase (BPL) and lipoyl protein ligase (LPL) | Glycyl-tRNA synthetase/DNA polymerase subunit gamma-2 |
|---|---|---|---|---|---|
|
UniProtKB:E7F4P9
|
442 |
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available