2. Gene
  3. IARS2 - isoleucyl-tRNA synthetase 2, mitochondrial Gene

IARS2 - isoleucyl-tRNA synthetase 2, mitochondrial Gene

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

Also known as ILERS; CAGSSS

Gene ID: 55699 | Gene type: protein coding

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)

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  • 940 a.a.
Protein Preferred Names Protein Names

isoleucine--tRNA ligase, mitochondrial

isoleucine tRNA ligase 2, mitochondrial

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

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS06507 IARS2 Human Pre-designed siRNA Set A / Unkown

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