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 alanine-tRNA ligase activity and aminoacyl-tRNA deacylase activity. Predicted to be involved in mitochondrial alanyl-tRNA aminoacylation. Predicted to act upstream of or within alanyl-tRNA aminoacylation. Predicted to be located in cytoplasm. Predicted to be active in mitochondrion. Human ortholog(s) of this gene implicated in combined oxidative phosphorylation deficiency 8 and progressive leukoencephalopathy with ovarian failure. Orthologous to human AARS2 (alanyl-tRNA synthetase 2, mitochondrial).
- 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
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| sa43857 | Allele with one point mutation | Unknown | Splice Site | ENU |
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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 |
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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 |
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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 |
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Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH211-12H2 | ZFIN Curated Data | |
| Contained in | BAC | DKEY-240E12 | ZFIN Curated Data | |
| Encodes | EST | IMAGE:7141191 | Thisse et al., 2004 |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:XM_001332352 (1) | 3297 nt | ||
| Genomic | GenBank:BX571958 (1) | 221392 nt | ||
| Polypeptide | UniProtKB:A0A8M1Q6V5 (1) | 1004 aa |
- Rostad, K.O., Trognitz, T., Frøyset, A.K., Bifulco, E., Fladmark, K.E. (2024) Accelerated Sarcopenia Phenotype in the DJ-1/Park7-Knockout Zebrafish. Antioxidants (Basel, Switzerland). 13(12):
- Ma, A.C., McNulty, M.S., Tanya, P.L., Jarryd, C.M., Martínez-Gálvez, G., Argue, D.P., Lee, H.B., Urban, M.D., Bullard, C.E., Blackburn, P.R., Man, T.K., Clark, K.J., Ekker, S.C. (2016) FusX: A rapid one-step TALE assembly system for genome science. Human gene therapy. 27(6):451-63
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