1. Gene
  2. WARS2 - tryptophanyl tRNA synthetase 2, mitochondrial Gene

WARS2 - tryptophanyl tRNA synthetase 2, mitochondrial Gene

Homo sapiens

Also known as TrpRS; PKDYS3; NEMMLAS; mtTrpRS

Gene ID: 10352 | Gene type: protein coding

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
Gene Ontology
  • Molecular Function
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables tryptophan-tRNA ligase activity IDA
IDA: Inferred from direct assay
10828066 GOA
Cellular Component GO Annotation Evidence Reference 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