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 localize to mitochondrion. Human ortholog(s) of this gene implicated in autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4 and mitochondrial DNA depletion syndrome. Is expressed in retina. 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