2. Gene
  3. PARS2 - prolyl-tRNA synthetase 2, mitochondrial Gene

PARS2 - prolyl-tRNA synthetase 2, mitochondrial Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as DEE75; proRS; EIEE75; MT-PRORS

Gene ID: 25973 | Gene type: protein coding

About PARS2

Cytogenetic location: 1p32.3 Genomic coordinates (GRCh38): 1:54,756,898-54,764,523 (from NCBI)

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-synt_2b: tRNA synthetase class II core domain (G, H, P, S and T) (99 - 264)

HGTP_anticodon

HGTP_anticodon: Anticodon binding domain (371 - 445)

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  • 475 a.a.
Protein Preferred Names Protein Names

probable proline--tRNA ligase, mitochondrial

proline tRNA ligase 2, mitochondrial (putative)

Related Diseases

Diseases Alias
Developmental And Epileptic Encephalopathy 75

DEE75

Epileptic Encephalopathy, Early Infantile, 75

Eiee75

Developmental And Epileptic Encephalopathy, 75

Early Infantile Epileptic Encephalopathy 75
Non-Specific Early-Onset Epileptic Encephalopathy

Undetermined Early-Onset Epileptic Encephalopathy

Non-Specific Eoee

Undetermined Eoee
Spastic Paraplegia 25, Autosomal Recessive

SPG25

Hereditary Spastic Paraplegia 25

Autosomal Recessive Spastic Paraplegia Type 25

Spastic Paraplegia 25

Disc Herniation With Spastic Paraplegia, Autosomal Recessive

Autosomal Recessive Spastic Paraplegia 25

Spinal Disc Herniation With Autosomal Recessive Spastic Paraplegia

Autosomal Recessive Spastic Paraplegia-Disc Herniation Syndrome
Chronic Frontal Sinusitis
Acute Ethmoiditis

Acute Ethmoidal Sinusitis

Acute Ethmoid Sinusitis

Ethmoidal Sinus - Acute
Deafness, Autosomal Recessive 94

DFNB94

Autosomal Recessive Nonsyndromic Deafness 94

Autosomal Recessive Deafness 94

Deafness, Autosomal Recessive, 94
Mitochondrial Dna Depletion Syndrome 4a

Alpers Syndrome

Alpers-Huttenlocher Syndrome

Alpers Progressive Infantile Poliodystrophy

Alpers Diffuse Degeneration Of Cerebral Gray Matter With Hepatic Cirrhosis

Alpers Disease

Progressive Sclerosing Poliodystrophy

Pndc

Diffuse Cerebral Sclerosis Of Schilder

MTDPS4A

Neuronal Degeneration Of Childhood With Liver Disease, Progressive

Alper'S Syndrome

Alpers' Disease Or Gray-Matter Degeneration

Diffuse Cerebral Degeneration In Infancy

Infantile Poliodystrophy

Poliodystrophia Cerebri Progressiva

Progressive Cerebral Poliodystrophy

Alpers' Disease

Alpers Progressive Sclerosing Poliodystrophy

Progressive Neuronal Degeneration Of Childhood With Liver Disease

Ahs

Mitochondrial Dna Depletion Syndrome 4a Alpers Type

Neuronal Degeneration Of Childhood With Liver Disease Progressive
Perrault Syndrome

Gonadal Dysgenesis, Xx Type, With Deafness

Ovarian Dysgenesis With Sensorineural Deafness

Gonadal Dysgenesis, Xx Type

Gonadal Dysgenesis With Auditory Dysfunction, Autosomal Recessive Inheritance

Gonadal Dysgenesis With Sensorineural Deafness, Autosomal Recessive Inheritance

Xx Gonodal Dysgenesis-Deafness Syndrome

Xx Gonodal Dysgenesis-Hearing Loss Syndrome

Gonadal Dysgenesis Xx Type Deafness
Mitochondrial Dna Depletion Syndrome

Mtdna Depletion Syndrome
Developmental And Epileptic Encephalopathy

Encephalopathy, Developmental And Epileptic
Hypomyelinating Leukodystrophy

Hld

Leukodystrophy, Hypomyelinating
Early Infantile Epileptic Encephalopathy

Early Infantile Epileptic Encephalopathy With Burst-Suppression

Early Infantile Epileptic Encephalopathy With Suppression Bursts

Eiee

Early Infantile Epileptic Encephalopathy With Suppression-Bursts

Ohtahara Syndrome

Encephalopathy, Epileptic, Early Infantile
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase
Bioactive Molecules (36)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-129047 Trypsin Activator / Unkown
HY-112558 AZ3451 Antagonist 99.84% Unkown
HY-P1308 SLIGRL-NH2 Agonist 99.98% Unkown
HY-P1314 2-Furoyl-LIGRLO-amide Agonist 99.87% Unkown
HY-P1309A PAR-4 Agonist Peptide, amide TFA Agonist 99.70% Unkown
HY-P0283 Protease-Activated Receptor-2, amide Agonist 98.73% Unkown
HY-123617 AZ8838 Antagonist 98.87% Unkown
HY-120528A GB-110 hydrochloride Agonist 99.86% Unkown
HY-120261 GB-88 Inhibitor 99.05% Unkown
HY-117793 I-191 Antagonist 99.14% Unkown
HY-P1309 PAR-4 Agonist Peptide, amide Agonist 99.48% Unkown
HY-124748A ENMD-1068 hydrochloride 98.33% Unkown
HY-P1260 FSLLRY-NH2 Inhibitor 98.52% Unkown
HY-14350 AC-55541 Agonist 99.25% Unkown
HY-P1260A FSLLRY-NH2 TFA Inhibitor 99.43% Unkown
HY-138558 PAR-2-IN-1 Inhibitor 99.79% Unkown
HY-129047A Trypsin (MS grade) Activator 95.00% Unkown
HY-P4803 PAR-2 (1-6) (human) Agonist 99.49% Unkown
HY-148016 I-287 Inhibitor 99.36% Unkown
HY-108556A RWJ-56110 dihydrochloride 99.54% Unkown
HY-P1310 VKGILS-NH2 Agonist 99.81% Unkown
HY-124061 GB83 Antagonist 99.80% Unkown
HY-14351 AC-264613 Agonist 98.3% Unkown
HY-120528 GB-110 Agonist / Unkown
HY-108556 RWJ-56110 / Unkown
HY-111214 K-14585 / Unkown
HY-122049 ENMD-1068 hydrobromide Antagonist / Unkown
HY-124748 ENMD-1068 / Unkown
HY-138951 AY77 Agonist / Unkown
HY-162762 PAR-2 antagonist 1 Antagonist / Unkown
HY-P1308A SLIGRL-NH2 TFA Agonist / Unkown
HY-P1310A VKGILS-NH2 TFA Agonist / Unkown
HY-P1314A 2-Furoyl-LIGRLO-amide TFA Agonist / Unkown
HY-P3259 AY254 Agonist / Unkown
HY-P5372 Ala-parafluoroPhe-Arg-Cha-Cit-Tyr-NH2 Agonist / Unkown
HY-RS10073 PARS2 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

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