PARS2 - prolyl-tRNA synthetase 2, mitochondrial Gene

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

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 25973

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)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 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

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