WARS2 - tryptophanyl tRNA synthetase 2, mitochondrial Gene

Also Known as TrpRS; PKDYS3; NEMMLAS; mtTrpRS

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 10352

About WARS2

Cytogenetic location: 1p12 Genomic coordinates (GRCh38): 1:119,031,216-119,140,672 (from NCBI)

This gene has 5 transcripts (splice variants), 204 orthologues, 1 paralogue and is associated with 3 phenotypes. Ubiquitous expression in kidney (RPKM 4.3), colon (RPKM 4.1) and 25 other tissues.

Summary

Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking Amino acids with nucleotide triplets contained in tRNAs, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. Two forms of tryptophanyl-tRNA synthetase exist, a cytoplasmic form, named WARS, and a mitochondrial form, named WARS2. This gene encodes the mitochondrial tryptophanyl-tRNA synthetase. Two alternative transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

WARS2 Products (8)

mRNA Protein Name
NM_001378226.1 NP_001365155.1 tryptophan--tRNA ligase, mitochondrial isoform 3
NM_001378227.1 NP_001365156.1 tryptophan--tRNA ligase, mitochondrial isoform 3
NM_001378228.1 NP_001365157.1 tryptophan--tRNA ligase, mitochondrial isoform 4
NM_001378229.1 NP_001365158.1 tryptophan--tRNA ligase, mitochondrial isoform 5
NM_001378230.1 NP_001365159.1 tryptophan--tRNA ligase, mitochondrial isoform 6
NM_001378231.1 NP_001365160.1 tryptophan--tRNA ligase, mitochondrial isoform 7
NM_015836.4 NP_056651.1 tryptophan--tRNA ligase, mitochondrial isoform 1 precursor
NM_201263.2 NP_957715.1 tryptophan--tRNA ligase, mitochondrial isoform 2 precursor
Molecular Function GO Annotation Evidence References Source
enables tryptophan-tRNA ligase activity IDA
IDA: Inferred from direct assay
10828066 GOA
Cellular Component GO Annotation Evidence References Source
located in mitochondrial matrix IDA
IDA: Inferred from direct assay
28236339 GOA
located in mitochondrion IDA
IDA: Inferred from direct assay
10828066 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

WARS2 Protein Structure

tRNA-synt_1b

tRNA-synt_1b: tRNA synthetases class I (W and Y) (32 - 314)

  • 0
  • 100
  • 200
  • 300
  • 360 a.a.
Protein Preferred Names Protein Names

tryptophan--tRNA ligase, mitochondrial

  • (Mt)TrpRS

Related Diseases

Diseases Alias
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
  • NEMMLAS

  • Wars2-Related Combined Oxidative Phosphorylation Defect

  • Mitochondrial Tryptophanyl-Trna Synthetase Deficiency

  • Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With/Without Seizures

Parkinsonism-Dystonia 3, Childhood-Onset
  • PKDYS3

Combined Oxidative Phosphorylation Deficiency 12
  • COXPD12

  • Ltbl

  • Leukoencephalopathy With Thalamus And Brainstem Involvement And High Lactate

  • Leukoencephalopathy-Thalamus And Brainstem Anomalies-High Lactate Syndrome

  • Combined Oxidative Phosphorylation Defect Type 12

  • Combined Oxidative Phosphorylation Deficiency, Type 12

Bulbar Polio
  • Poliomyelitis, Bulbar

  • Bulbar Poliomyelitis

Developmental And Epileptic Encephalopathy 75
  • DEE75

  • Epileptic Encephalopathy, Early Infantile, 75

  • Eiee75

  • Developmental And Epileptic Encephalopathy, 75

  • Early Infantile Epileptic Encephalopathy 75

Lactic Acidosis
  • Acidosis, Lactic

  • Acidosis Lactic

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

Neuronopathy, Distal Hereditary Motor, Type Va
  • Dsmav

  • Distal Hereditary Motor Neuropathy Type V

  • Young Adult-Onset Distal Hereditary Motor Neuropathy

  • Neuronopathy, Distal Hereditary Motor, Type V

  • Distal Hereditary Motor Neuronopathy Type 5

  • Dhmn5

  • Distal Spinal Muscular Atrophy Type 5

  • HMN5A

  • Hmn5

  • Dhmn5a

  • Dhmn Va

  • Dsmava

  • Spinal Muscular Atrophy, Distal, With Upper Limb Predominance

  • Distal Hmn V

  • Autosomal Recessive Distal Spinal Muscular Atrophy Type 5

  • Dsma5

  • Young Adult-Onset Dhmn

  • Dhmn-V

  • Hmn V

  • Neuronopathy, Distal Hereditary Motor, Type 5a

  • Hmn 5a

  • Neuropathy, Distal Hereditary Motor, Type Va

  • Spinal Muscular Atrophy, Distal, Type Va

  • Spinal Muscular Atrophy, Distal, Type V

  • Distal Spinal Muscular Atrophy Type V

  • Distal Spinal Muscular Atrophy With Upper Limb Predominance

  • Distal Hereditary Motor Neuronopathy Type 5a

  • Distal Hmn Va

  • Distal Spinal Muscular Atrophy Type Va

  • Distal Hereditary Motor Neuropathy, Type V

  • Distal Hereditary Motor Neuronopathy, Type V

  • Distal Spinal Muscular Atrophy, Type V

  • Spinal Muscular Atrophy, Distal Type V

  • Distal Hereditary Motor Neuropathy Type 5

  • Neuronopathy, Distal Hereditary Motor, 5a

  • Dhmn V

  • Distal Hereditary Motor Neuronopathy Type Va

  • Distal Hereditary Motor Neuropathy Type Va

  • Dsma-V

  • Hmn Va

  • Spinal Muscular Atrophy Distal Type V

  • Spinal Muscular Atrophy Distal Type Va

  • Spinal Muscular Atrophy Distal With Upper Limb Predominance

  • Neuropathy, Distal Hereditary Motor, Type V

  • Neuropathy, Motor, Distal, Hereditary, Type Va

Dystonia
  • Dystonic Disease

  • Dystonic Disorder

  • Dystonia Disorders

  • Neuroleptic Dyskinesia

Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
  • Melas Syndrome

  • MELAS

  • Mitochondrial Encephalomyopathy Lactic Acidosis And Stroke-Like Episodes

  • Mitochondrial Myopathy, Lactic Acidosis, Stroke-Like Episode

  • Mitochondrial Encephalomyopathy, Lactic Acidosis, And Stroke-Like Episodes

  • Myopathy, Mitochondrial-Encephalopathy-Lactic Acidosis-Stroke

  • Mitochondrial Encephalomyopathy, Lactic Acidosis And Stroke-Like Episodes

  • Mitochondrial Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes

  • Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis And Stroke-Like Episodes

  • Mitochondrial Encephalomyopathy With Lactic Acidosis And Stroke-Like Episodes Syndrome

  • Myopathy, Mitochondrial, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes

Charcot-Marie-Tooth Disease
  • Cmt

  • Hmsn

  • Hereditary Motor And Sensory Neuropathy

  • Pma

  • Cmt - Charcot-Marie-Tooth Disease

  • Charcot Marie Tooth Disease

  • Charcot-Marie-Tooth Hereditary Neuropathy

  • Charcot-Marie-Tooth Syndrome

  • Peroneal Muscular Atrophy

  • Hereditary Motor And Sensory Neuropathies

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 WARS2 RGD RGD:1593417
Canis familiaris WARS2 VGNC VGNC:48332
Mus musculus WARS2 MGD MGI:1917810
Bos taurus WARS2 VGNC VGNC:36864
Felis catus WARS2 VGNC VGNC:67000
Macaca mulatta WARS2 VGNC VGNC:100187
Others WARS2 NCBI