PARS2 - prolyl-tRNA synthetase 2, mitochondrial Gene
Also Known as DEE75; proRS; EIEE75; MT-PRORS
Species: Homo sapiens
About PARS2
This gene has 1 transcript (splice variant), 179 orthologues, 4 paralogues and is associated with 2 phenotypes. Ubiquitous expression in testis (RPKM 3.4), ovary (RPKM 2.8) and 24 other tissues.
Summary
This gene encodes a putative member of the class II family of aminoacyl-tRNA synthetases. These Enzymes play a critical role in protein biosynthesis by charging tRNAs with their cognate Amino acids. This protein is encoded by the nuclear genome but is likely to be imported to the mitochondrion where it is thought to catalyze the ligation of proline to tRNA molecules. Mutations have been found in this gene in some patients with Alpers syndrome. [provided by RefSeq, Mar 2015]
PARS2 Products (1)
| mRNA | Protein | Name |
|---|---|---|
| NM_152268.4 | NP_689481.2 | probable proline--tRNA ligase, mitochondrial precursor |
PARS2 Protein Structure
tRNA-synt_2b: tRNA synthetase class II core domain (G, H, P, S and T) (99 - 264)
HGTP_anticodon: Anticodon binding domain (371 - 445)
- 0
- 100
- 200
- 300
- 400
- 475 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
probable proline--tRNA ligase, mitochondrial |
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Related Diseases
| Diseases | Alias | |
|---|---|---|
| Developmental And Epileptic Encephalopathy 75 |
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| Non-Specific Early-Onset Epileptic Encephalopathy |
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| Spastic Paraplegia 25, Autosomal Recessive |
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| Chronic Frontal Sinusitis |
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| Acute Ethmoiditis |
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| Deafness, Autosomal Recessive 94 |
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| Mitochondrial Dna Depletion Syndrome 4a |
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| Perrault Syndrome |
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| Mitochondrial Dna Depletion Syndrome |
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| Developmental And Epileptic Encephalopathy |
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| Hypomyelinating Leukodystrophy |
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| Early Infantile Epileptic Encephalopathy |
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Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Rattus norvegicus | PARS2 | RGD | RGD:1305345 |
| Felis catus | PARS2 | VGNC | VGNC:64044 |
| Bos taurus | PARS2 | VGNC | VGNC:49561 |
| Macaca mulatta | PARS2 | VGNC | VGNC:75707 |
| Mus musculus | PARS2 | MGD | MGI:2386296 |
| Others | PARS2 | NCBI |