Gene
rars2
- ID
- ZDB-GENE-040426-1244
- Name
- arginyl-tRNA synthetase 2, mitochondrial
- Symbol
- rars2 Nomenclature History
- Previous Names
-
- zgc:63702
- Type
- protein_coding_gene
- Location
- Chr: 20 Mapping Details/Browsers
- Description
- Predicted to enable arginine-tRNA ligase activity. Acts upstream of or within brain morphogenesis. Predicted to be active in mitochondrion. Human ortholog(s) of this gene implicated in pontocerebellar hypoplasia type 6. Orthologous to human RARS2 (arginyl-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
-
- MGC:63702 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- 2 figures from Kasher et al., 2011
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| sa17180 | Allele with one point mutation | Unknown | Splice Site | ENU |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| MO1-rars2 | N/A | Kasher et al., 2011 |
| MO2-rars2 | N/A | Kasher et al., 2011 |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| pontocerebellar hypoplasia type 6 | Alliance | Pontocerebellar hypoplasia, type 6 | 611523 |
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Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR001412 | Aminoacyl-tRNA synthetase, class I, conserved site |
| Domain | IPR008909 | DALR anticodon binding |
| Domain | IPR035684 | Arginyl-tRNA synthetase, catalytic core domain |
| Family | IPR001278 | Arginine-tRNA ligase |
| Homologous_superfamily | IPR009080 | Aminoacyl-tRNA synthetase, class Ia, anticodon-binding |
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Domain Details Per Protein
| Protein | Additional Resources | Length | Aminoacyl-tRNA synthetase, class Ia, anticodon-binding | Aminoacyl-tRNA synthetase, class I, conserved site | Arginine-tRNA ligase | Arginyl-tRNA synthetase, catalytic core domain | DALR anticodon binding | Rossmann-like alpha/beta/alpha sandwich fold |
|---|---|---|---|---|---|---|---|---|
| UniProtKB:Q6PGW8 | InterPro | 597 | ||||||
| UniProtKB:A0A8M3AVZ0 | InterPro | 577 |
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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 | CH73-317M8 | ZFIN Curated Data | |
| Contained in | Fosmid | CH1073-493K20 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:63702 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_200617 (1) | 1928 nt | ||
| Genomic | GenBank:CT573058 (1) | 108787 nt | ||
| Polypeptide | UniProtKB:Q6PGW8 (1) | 597 aa |
- Elkon, R., Milon, B., Morrison, L., Shah, M., Vijayakumar, S., Racherla, M., Leitch, C.C., Silipino, L., Hadi, S., Weiss-Gayet, M., Barras, E., Schmid, C.D., Ait-Lounis, A., Barnes, A., Song, Y., Eisenman, D.J., Eliyahu, E., Frolenkov, G.I., Strome, S.E., Durand, B., Zaghloul, N.A., Jones, S.M., Reith, W., Hertzano, R. (2015) RFX transcription factors are essential for hearing in mice. Nature communications. 6:8549
- Kasher, P.R., Namavar, Y., van Tijn, P., Fluiter, K., Sizarov, A., Kamermans, M., Grierson, A.J., Zivkovic, D., and Baas, F. (2011) Impairment of the tRNA splicing endonuclease subunit 54 (tsen54) gene causes neurological abnormalities and larval death in zebrafish models of Pontocerebellar Hypoplasia. Human molecular genetics. 20(8):1574-84
- Strausberg,R.L., Feingold,E.A., Grouse,L.H., Derge,J.G., Klausner,R.D., Collins,F.S., Wagner,L., Shenmen,C.M., Schuler,G.D., Altschul,S.F., Zeeberg,B., Buetow,K.H., Schaefer,C.F., Bhat,N.K., Hopkins,R.F., Jordan,H., Moore,T., Max,S.I., Wang,J., Hsieh,F., Diatchenko,L., Marusina,K., Farmer,A.A., Rubin,G.M., Hong,L., Stapleton,M., Soares,M.B., Bonaldo,M.F., Casavant,T.L., Scheetz,T.E., Brownstein,M.J., Usdin,T.B., Toshiyuki,S., Carninci,P., Prange,C., Raha,S.S., Loquellano,N.A., Peters,G.J., Abramson,R.D., Mullahy,S.J., Bosak,S.A., McEwan,P.J., McKernan,K.J., Malek,J.A., Gunaratne,P.H., Richards,S., Worley,K.C., Hale,S., Garcia,A.M., Gay,L.J., Hulyk,S.W., Villalon,D.K., Muzny,D.M., Sodergren,E.J., Lu,X., Gibbs,R.A., Fahey,J., Helton,E., Ketteman,M., Madan,A., Rodrigues,S., Sanchez,A., Whiting,M., Madan,A., Young,A.C., Shevchenko,Y., Bouffard,G.G., Blakesley,R.W., Touchman,J.W., Green,E.D., Dickson,M.C., Rodriguez,A.C., Grimwood,J., Schmutz,J., Myers,R.M., Butterfield,Y.S., Krzywinski,M.I., Skalska,U., Smailus,D.E., Schnerch,A., Schein,J.E., Jones,S.J., and Marra,M.A. (2002) Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Proceedings of the National Academy of Sciences of the United States of America. 99(26):16899-903
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