IARS2 - isoleucyl-tRNA synthetase 2, mitochondrial Gene

Also Known as ILERS; CAGSSS

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 55699

About IARS2

Cytogenetic location: 1q41 Genomic coordinates (GRCh38): 1:220,094,132-220,148,041 (from NCBI)

This gene has 4 transcripts (splice variants), 205 orthologues, 7 paralogues and is associated with 3 phenotypes. Ubiquitous expression in fat (RPKM 38.4), kidney (RPKM 32.0) 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 isoleucine-tRNA synthetase exist, a cytoplasmic form and a mitochondrial form. This gene encodes the mitochondrial isoleucine-tRNA synthetase which belongs to the class-I Aminoacyl-tRNA Synthetase family. [provided by RefSeq, Dec 2014]

IARS2 Products (1)

mRNA Protein Name
NM_018060.4 NP_060530.3 isoleucine--tRNA ligase, mitochondrial precursor

IARS2 Protein Structure

tRNA-synt_1

tRNA-synt_1: tRNA synthetases class I (I, L, M and V) (27 - 637)

Anticodon_1

Anticodon_1: Anticodon-binding domain of tRNA (684 - 806)

zf-FPG_IleRS

zf-FPG_IleRS: Zinc finger found in FPG and IleRS (913 - 936)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 940 a.a.
Protein Preferred Names Protein Names

isoleucine--tRNA ligase, mitochondrial

  • isoleucine tRNA ligase 2, mitochondrial

IARS2 Antibodies

Cat. No. Product Name Application Reactivity
HY-P810989 IARS2 Antibody WB, IHC-P, ICC/IF Human, Mouse, Rat

Related Diseases

Diseases Alias
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
  • CAGSSS

  • Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome

Cataract
  • Cataracts

  • Cat - [Cataract]

  • Cataract Form

  • Lens Opacity

  • Lens Opacities

Peripheral Nervous System Disease
  • Peripheral Neuropathy

  • Peripheral Nerve Disease

  • Peripheral Nerve Disorders

  • Neuropathy, Peripheral

  • Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation

Leigh Syndrome
  • Leigh Disease

  • Infantile Subacute Necrotizing Encephalopathy

  • Leigh Syndrome Due To Mitochondrial Complex Iv Deficiency

  • LS

  • Sne

  • Leigh'S Disease

  • Leigh Syndrome Due To Mitochondrial Complex I Deficiency

  • Necrotizing Encephalopathy, Infantile Subacute, Of Leigh

  • Subacute Necrotizing Encephalomyelopathy

  • Necrotizing Encephalopathy Infantile Subacute Of Leigh

  • Leigh Syndrome Due To Mitochondrial Complex Iii Deficiency

  • Infantile Necrotizing Encephalomyelopathy

  • Juvenile Subacute Necrotizing Encephalomyelopathy

  • Leigh'S Necrotizing Encephalopathy

  • Subacute Necrotizing Encephalopathy

  • Juvenile Subacute Necrotizing Encephalopathy

  • Leigh Syndrome Due To Mitochondrial Complex Ii Deficiency

  • Leigh Syndrome Due To Mitochondrial Complex V Deficiency

  • Encephalopathy, Subacute Necrotizing, Infantile

  • Encephalopathy, Subacute Necrotizing, Juvenile

  • Maternally Inherited Leigh Syndrome

  • Subacute Necrotising Encephalomyelopathy

  • Subacute Necrotising Encephalopathy

Deafness, Autosomal Recessive 94
  • DFNB94

  • Autosomal Recessive Nonsyndromic Deafness 94

  • Autosomal Recessive Deafness 94

  • Deafness, Autosomal Recessive, 94

Developmental And Epileptic Encephalopathy 75
  • DEE75

  • Epileptic Encephalopathy, Early Infantile, 75

  • Eiee75

  • Developmental And Epileptic Encephalopathy, 75

  • Early Infantile Epileptic Encephalopathy 75

Deafness, Autosomal Recessive 89
  • DFNB89

  • Autosomal Recessive Nonsyndromic Deafness 89

  • Autosomal Recessive Deafness 89

  • Deafness, Autosomal Recessive, 89

  • Deafness, Autosomal Recessive, Type 89

Antisynthetase Syndrome
  • As Syndrome

  • Anti-Jo1 Syndrome

Sensorineural Hearing Loss
  • Sensory Hearing Loss

  • Sensorineural Deafness

  • Sensorineural Hearing Loss Disorder

  • Hearing Loss, Sensorineural

  • Central Hearing Loss

  • High Frequency Deafness

  • High Frequency Hearing Loss

  • High-Frequency Hearing Loss

  • Perceptive Deafness

  • Perceptive Hearing Loss

  • Perceptive Hearing Loss Or Deafness

  • Hearing Loss Sensorineural

  • Deafness Sensorineural

  • Hearing Loss High-Frequency

  • Hearing Loss, Central

  • Hearing Loss, High-Frequency

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 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

West Syndrome
  • Infantile Spasms

  • Infantile Spasms Syndrome

  • Infantile Spasm

  • X-Linked Infantile Spasm Syndrome

  • X-Linked Infantile Spasms

  • Epileptic Encephalopathy, Early Infantile, 1

  • Is

  • Tonic Spasms With Clustering, Arrest Of Psychomotor Development And Hypsarrhythmia On Eeg

  • West'S Syndrome

  • Spasms, Infantile

  • Is -[Infantile Spasm]

  • Salaam Spasm

  • Salaam Tic

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
Bos taurus IARS2 VGNC VGNC:30019
Mus musculus IARS2 MGD MGI:1919586
Canis familiaris IARS2 VGNC VGNC:41850
Felis catus IARS2 VGNC VGNC:62863
Macaca mulatta IARS2 VGNC VGNC:73458
Rattus norvegicus IARS2 RGD RGD:1311857
Others IARS2 NCBI