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Imported Disease Annotations - OMIMTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Perrault Syndrome 2 | | ISO | RGD:1352732 | 7240710 | | OMIM | | |
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Imported Disease Annotations - OMIMTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Perrault Syndrome 2 | | ISO | RGD:1352732 | 7240710 | | OMIM | | |
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# | Reference Title | Reference Citation |
1. | Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. | Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27. |
2. | Rat ISS GO annotations from MGI mouse gene data--August 2006 | MGD data from the GO Consortium |
3. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
4. | SMPDB Annotation Import Pipeline | Pipeline to import SMPDB annotations from SMPDB into RGD |
5. | GOA pipeline | RGD automated data pipeline |
6. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
7. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
8. | Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. | Strausberg RL, etal., Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11. |
Hars2 (Rattus norvegicus - Norway rat) |
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HARS2 (Homo sapiens - human) |
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Hars2 (Mus musculus - house mouse) |
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Hars2 (Chinchilla lanigera - long-tailed chinchilla) |
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HARS2 (Pan paniscus - bonobo/pygmy chimpanzee) |
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HARS2 (Canis lupus familiaris - dog) |
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Hars2 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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HARS2 (Sus scrofa - pig) |
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HARS2 (Chlorocebus sabaeus - green monkey) |
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Hars2 (Heterocephalus glaber - naked mole-rat) |
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Variants in Hars2
16 total Variants ![]() |
The detailed report is available here: | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer |
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
The following QTLs overlap with this region. | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer | ![]() | Gviewer |
RH131148 |
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BG373676 |
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alimentary part of gastrointestinal system | circulatory system | endocrine system | exocrine system | hemolymphoid system | hepatobiliary system | integumental system | musculoskeletal system | nervous system | renal system | reproductive system | respiratory system | appendage | |
High | |||||||||||||
Medium | 3 | 43 | 52 | 36 | 19 | 36 | 8 | 10 | 74 | 35 | 38 | 11 | 8 |
Low | 5 | 5 | 5 | 1 | 3 | ||||||||
Below cutoff |
RefSeq Transcripts | NM_001014012 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
XM_006254575 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039096863 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039096864 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_005496038 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | BC089973 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
CK481952 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CV075096 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JACYVU010000299 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENSRNOT00000021516 ⟹ ENSRNOP00000021516 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSRNOT00000021797 ⟹ ENSRNOP00000021797 | ||||||||||||
RefSeq Status: | |||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSRNOT00000095646 ⟹ ENSRNOP00000078926 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSRNOT00000097043 ⟹ ENSRNOP00000085580 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSRNOT00000104252 ⟹ ENSRNOP00000090091 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSRNOT00000112291 ⟹ ENSRNOP00000085665 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_001014012 ⟹ NP_001014034 | ||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_006254575 ⟹ XP_006254637 | ||||||||||||||||
RefSeq Status: | |||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_039096863 ⟹ XP_038952791 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_039096864 ⟹ XP_038952792 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XR_005496038 | ||||||||
RefSeq Status: | |||||||||
Type: | NON-CODING | ||||||||
Position: |
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Protein RefSeqs | NP_001014034 | (Get FASTA) | NCBI Sequence Viewer |
XP_006254637 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038952791 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038952792 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAH89973 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_001014034 ⟸ NM_001014012 |
- UniProtKB: | F1M9C9 (UniProtKB/TrEMBL), Q5EB72 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_006254637 ⟸ XM_006254575 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A0A8I5ZM00 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | ENSRNOP00000021797 ⟸ ENSRNOT00000021797 |
RefSeq Acc Id: | XP_038952792 ⟸ XM_039096864 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_038952791 ⟸ XM_039096863 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | ENSRNOP00000085665 ⟸ ENSRNOT00000112291 |
RefSeq Acc Id: | ENSRNOP00000078926 ⟸ ENSRNOT00000095646 |
RefSeq Acc Id: | ENSRNOP00000090091 ⟸ ENSRNOT00000104252 |
RefSeq Acc Id: | ENSRNOP00000021516 ⟸ ENSRNOT00000021516 |
RefSeq Acc Id: | ENSRNOP00000085580 ⟸ ENSRNOT00000097043 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-F1M9C9-F1-model_v2 | AlphaFold | F1M9C9 | 1-507 | view protein structure |
eQTL | View at Phenogen | |
WGCNA | View at Phenogen | |
Tissue/Strain Expression | View at Phenogen |
RGD ID: | 13700731 | ||||||||
Promoter ID: | EPDNEW_R11255 | ||||||||
Type: | multiple initiation site | ||||||||
Name: | Hars2_1 | ||||||||
Description: | histidyl-tRNA synthetase 2, mitochondrial | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
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Database | Acc Id | Source(s) |
AGR Gene | RGD:1308426 | AgrOrtholog |
BioCyc Gene | G2FUF-7855 | BioCyc |
BioCyc Pathway | TRNA-CHARGING-PWY [tRNA charging] | BioCyc |
Ensembl Genes | ENSRNOG00000016087 | Ensembl, ENTREZGENE, UniProtKB/TrEMBL |
Ensembl Protein | ENSRNOP00000021797 | ENTREZGENE |
ENSRNOP00000021797.3 | UniProtKB/TrEMBL | |
ENSRNOP00000078926 | ENTREZGENE | |
ENSRNOP00000078926.1 | UniProtKB/TrEMBL | |
ENSRNOP00000085580.1 | UniProtKB/TrEMBL | |
ENSRNOP00000085665.1 | UniProtKB/TrEMBL | |
ENSRNOP00000090091.1 | UniProtKB/TrEMBL | |
Ensembl Transcript | ENSRNOT00000021797 | ENTREZGENE |
ENSRNOT00000021797.6 | UniProtKB/TrEMBL | |
ENSRNOT00000095646 | ENTREZGENE | |
ENSRNOT00000095646.1 | UniProtKB/TrEMBL | |
ENSRNOT00000097043.1 | UniProtKB/TrEMBL | |
ENSRNOT00000104252.1 | UniProtKB/TrEMBL | |
ENSRNOT00000112291.1 | UniProtKB/TrEMBL | |
Gene3D-CATH | 3.40.50.800 | UniProtKB/TrEMBL |
Classic Zinc Finger | UniProtKB/TrEMBL | |
IMAGE_CLONE | IMAGE:7316402 | IMAGE-MGC_LOAD |
InterPro | aa-tRNA-synth_II | UniProtKB/TrEMBL |
aa-tRNA-synth_II/BPL/LPL | UniProtKB/TrEMBL | |
Anticodon-bd | UniProtKB/TrEMBL | |
Anticodon-bd_dom_sf | UniProtKB/TrEMBL | |
His-tRNA-ligase | UniProtKB/TrEMBL | |
His-tRNA_synth_IIA | UniProtKB/TrEMBL | |
HisRS-like_core | UniProtKB/TrEMBL | |
HisRS_anticodon | UniProtKB/TrEMBL | |
Matrin/U1-like-C_Znf_C2H2 | UniProtKB/TrEMBL | |
Znf_C2H2_jaz | UniProtKB/TrEMBL | |
Znf_C2H2_sf | UniProtKB/TrEMBL | |
KEGG Report | rno:307491 | UniProtKB/TrEMBL |
MGC_CLONE | MGC:109366 | IMAGE-MGC_LOAD |
NCBI Gene | 307491 | ENTREZGENE |
PANTHER | HISTIDINE--TRNA LIGASE, MITOCHONDRIAL | UniProtKB/TrEMBL |
HISTIDYL-TRNA SYNTHETASE | UniProtKB/TrEMBL | |
Pfam | HGTP_anticodon | UniProtKB/TrEMBL |
tRNA-synt_His | UniProtKB/TrEMBL | |
zf-C2H2_jaz | UniProtKB/TrEMBL | |
PhenoGen | Hars2 | PhenoGen |
PIRSF | His-tRNA_synth | UniProtKB/TrEMBL |
PROSITE | AA_TRNA_LIGASE_II | UniProtKB/TrEMBL |
SMART | ZnF_U1 | UniProtKB/TrEMBL |
Superfamily-SCOP | Class II aaRS ABD-related | UniProtKB/TrEMBL |
SSF55681 | UniProtKB/TrEMBL | |
SSF57667 | UniProtKB/TrEMBL | |
TIGRFAMs | hisS | UniProtKB/TrEMBL |
UniProt | A0A8I5ZM00 | ENTREZGENE, UniProtKB/TrEMBL |
A0A8I6A401_RAT | UniProtKB/TrEMBL | |
A0A8I6AB48_RAT | UniProtKB/TrEMBL | |
A0A8I6GD20_RAT | UniProtKB/TrEMBL | |
F1M9C9 | ENTREZGENE, UniProtKB/TrEMBL | |
Q5EB72 | ENTREZGENE, UniProtKB/TrEMBL |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
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2017-03-27 | Hars2 | histidyl-tRNA synthetase 2, mitochondrial | Hars2 | histidyl-tRNA synthetase 2 | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
2015-12-02 | Hars2 | histidyl-tRNA synthetase 2 | Hars2 | histidyl-tRNA synthetase 2, mitochondrial | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
2012-07-25 | Hars2 | histidyl-tRNA synthetase 2, mitochondrial | Hars2 | histidyl-tRNA synthetase 2, mitochondrial (putative) | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
2012-07-16 | Hars2 | histidyl-tRNA synthetase 2, mitochondrial (putative) | Hars2l | histidyl-tRNA synthetase 2-like | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
2008-03-13 | Hars2l | histidyl-tRNA synthetase 2-like | Zmat2 | zinc finger, matrin type 2 | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
2006-03-30 | Zmat2 | zinc finger, matrin type 2 | RGD1308426 | similar to histidyl-tRNA synthetase-like | Symbol and Name updated | 1299863 | APPROVED |
2005-12-06 | RGD1308426 | similar to histidyl-tRNA synthetase-like | RGD1308426_predicted | similar to histidyl-tRNA synthetase-like (predicted) | Symbol and Name updated | 1559027 | APPROVED |
2005-01-20 | RGD1308426_predicted | similar to histidyl-tRNA synthetase-like (predicted) | LOC307491_predicted | Symbol and Name status set to approved | 1331353 | APPROVED | |
2005-01-12 | LOC307491_predicted | similar to histidyl-tRNA synthetase-like (predicted) | Symbol and Name status set to provisional | 70820 | PROVISIONAL |