Gene
aars2
- ID
- ZDB-GENE-041008-213
- Name
- alanyl-tRNA synthetase 2, mitochondrial (putative)
- Symbol
- aars2 Nomenclature History
- Previous Names
-
- im:7141191
- si:dkey-240e12.1 (1)
- Type
- protein_coding_gene
- Location
- Chr: 22 Mapping Details/Browsers
- Description
- Predicted to enable UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity. Predicted to be involved in protein O-linked glycosylation. Predicted to act upstream of or within alanyl-tRNA aminoacylation. Predicted to be located in cytoplasm. Predicted to be active in Golgi membrane. Human ortholog(s) of this gene implicated in combined oxidative phosphorylation deficiency 8 and progressive leukoencephalopathy with ovarian failure. Orthologous to several human genes including B3GALT5 (beta-1,3-galactosyltransferase 5).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Thisse et al., 2004
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7141191 (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 |
|---|---|---|---|
| combined oxidative phosphorylation deficiency 8 | Alliance | Combined oxidative phosphorylation deficiency 8 | 614096 |
| progressive leukoencephalopathy with ovarian failure | Alliance | Leukoencephalopathy, progressive, with ovarian failure | 615889 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR012947 | Threonyl/alanyl tRNA synthetase, SAD |
| Domain | IPR018164 | Alanyl-tRNA synthetase, class IIc, N-terminal |
| Domain | IPR018165 | Alanyl-tRNA synthetase, class IIc, core domain |
| Family | IPR002318 | Alanine-tRNA ligase, class IIc |
| Family | IPR023033 | Alanine-tRNA ligase, eukaryota/bacteria |
| Family | IPR050058 | Alanine--tRNA ligase |
| Homologous_superfamily | IPR009000 | Translation protein, beta-barrel domain superfamily |
| Homologous_superfamily | IPR018162 | Alanine-tRNA ligase, class IIc, anti-codon-binding domain superfamily |
| Homologous_superfamily | IPR018163 | Threonyl/alanyl tRNA synthetase, class II-like, putative editing domain superfamily |
| Homologous_superfamily | IPR045864 | Class II Aminoacyl-tRNA synthetase/Biotinyl protein ligase (BPL) and lipoyl protein ligase (LPL) |
Domain Details Per Protein
| Protein | Additional Resources | Length | Alanine--tRNA ligase | Alanine-tRNA ligase, class IIc | Alanine-tRNA ligase, class IIc, anti-codon-binding domain superfamily | Alanine-tRNA ligase, eukaryota/bacteria | Alanyl-tRNA synthetase, class IIc, core domain | Alanyl-tRNA synthetase, class IIc, N-terminal | Class II Aminoacyl-tRNA synthetase/Biotinyl protein ligase (BPL) and lipoyl protein ligase (LPL) | Threonyl/alanyl tRNA synthetase, class II-like, putative editing domain superfamily | Threonyl/alanyl tRNA synthetase, SAD | Translation protein, beta-barrel domain superfamily |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:A0A8M1Q6V5 | InterPro | 1004 | ||||||||||
| UniProtKB:A0A8M9PDL5 | InterPro | 1004 | ||||||||||
| UniProtKB:A0A8M3AME6 | InterPro | 856 |
Interactions and Pathways
No data available
Plasmids
No data available