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 and protein glycosylation. Predicted to be located in Golgi membrane. Predicted to be active in membrane. Human ortholog(s) of this gene implicated in combined oxidative phosphorylation deficiency 8. 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 | 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
|
1004 | ||||||||||
|
UniProtKB:A0A8M9PDL5
|
1004 | ||||||||||
|
UniProtKB:A0A8M3AME6
|
856 |
Interactions and Pathways
No data available
Plasmids
No data available