AARS2 - alanyl-tRNA synthetase 2, mitochondrial Gene

Also Known as AARSL; LKENP; COXPD8; MTALARS; MT-ALARS

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 57505

About AARS2

Cytogenetic location: 6p21.1 Genomic coordinates (GRCh38): 6:44,298,731-44,313,347 (from NCBI)

This gene has 2 transcripts (splice variants), 195 orthologues, 2 paralogues and is associated with 5 phenotypes. Ubiquitous expression in small intestine (RPKM 2.7), ovary (RPKM 2.7) and 25 other tissues.

Summary

The protein encoded by this gene belongs to the class-II Aminoacyl-tRNA Synthetase family. Aminoacyl-tRNA synthetases play critical roles in mRNA translation by charging tRNAs with their cognate Amino acids. The encoded protein is a mitochondrial enzyme that specifically aminoacylates alanyl-tRNA. Mutations in this gene are a cause of combined Oxidative Phosphorylation deficiency 8. [provided by RefSeq, Dec 2011]

AARS2 Products (1)

mRNA	Protein	Name
NM_020745.4	NP_065796.2	alanine--tRNA ligase, mitochondrial

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables alanine-tRNA ligase activity	IMP IMP: Inferred from mutant phenotype	21549344	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in mitochondrial alanyl-tRNA aminoacylation	IMP IMP: Inferred from mutant phenotype	21549344	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in mitochondrion	IDA IDA: Inferred from direct assay	21549344	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

AARS2 Protein Structure

tRNA-synt_2c

tRNA_SAD

0
200
400
600
800
985 a.a.

Protein Preferred Names	Protein Names
alanine--tRNA ligase, mitochondrial	alanine tRNA ligase 2, mitochondrial (putative)

Related Diseases

Diseases	Alias
Combined Oxidative Phosphorylation Deficiency 8	COXPD8 Combined Oxidative Phosphorylation Defect Type 8 Cardiomyopathy, Hypertrophic Mitochondrial, Fatal Infantile Cardiomyopathy Hypertrophic Mitochondrial Fatal Infantile Combined Oxidative Phosphorylation Deficiency, Type 8
Leukoencephalopathy, Progressive, With Ovarian Failure	LKENP
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1	Hereditary Diffuse Leukoencephalopathy With Spheroids Adult-Onset Leukoencephalopathy With Axonal Spheroids And Pigmented Glia Alsp Gpsc Subcortical Gliosis Of Neumann Leukoencephalopathy, Diffuse Hereditary, With Spheroids 1 Autosomal Dominant Leukoencephalopathy With Neuroaxonal Spheroids Hdls HDLS1 Leukoencephalopathy, Adult-Onset, With Axonal Spheroids And Pigmented Glia Gliosis, Familial Progressive Subcortical Leukoencephalopathy, Diffuse Hereditary, With Spheroids Pold Pigmentary Orthochromatic Leukodystrophy Hereditary Diffuse Leukoencephalopathy With Axonal Spheroids And Pigmented Glia Familial Progressive Subcortical Gliosis Leukoencephalopathy With Neuroaxonal Spheroids, Autosomal Dominant Dementia, Familial, Neumann Type Adult-Onset Leukodystrophy With Neuroaxonal Spheroids Hereditary Diffuse Leukoencephalopathy With Axonal Spheroids Neuroaxonal Leukodystrophy Fpsg Familial Dementia, Neumann Type Familial Dementia Neumann Type Leukoencephalopathy, Diffuse Hereditary, With Spheroid
Leukoencephalopathy With Vanishing White Matter	Cree Leukoencephalopathy Vanishing White Matter Disease Ovarioleukodystrophy Vanishing White Matter Leukodystrophy Childhood Ataxia With Central Nervous System Hypomyelinization Cach Cach Syndrome Myelinosis Centralis Diffusa VWM Cle Childhood Ataxia With Central Nervous System Hypomyelination Childhood Ataxia With Diffuse Central Nervous System Hypomyelination Cach/Vwm Cach/Vwm Syndrome Childhood Ataxia With Central Nervous System Hypomyelination/Vanishing White Matter Cree Leukoencehalopathy Late Infantile Cach Syndrome Juvenile Or Adult Cach Syndrome Congenital Or Early Infantile Cach Syndrome Leukodystrophy With Vanishing White Matter
Combined Oxidative Phosphorylation Deficiency
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
Charcot-Marie-Tooth Disease, Axonal, Type 2n	Charcot-Marie-Tooth Disease Axonal Type 2n CMT2N Autosomal Dominant Charcot-Marie-Tooth Disease Type 2n Charcot-Marie-Tooth Neuropathy Axonal Type 2n Charcot-Marie-Tooth Neuropathy, Axonal, Type 2n Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2n Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Type 2n Charcot-Marie-Tooth Disease 2n Charcot-Marie-Tooth Disease Axonal Autosomal Dominant Type 2n Charcot-Marie-Tooth Disease, Type 2n
Charcot-Marie-Tooth Disease, Recessive Intermediate B	Charcot-Marie-Tooth Disease Recessive Intermediate B CMTRIB Ri-Cmtb Charcot-Marie-Tooth Disease, Recessive Intermediate, B Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease Type B Charcot-Marie-Tooth Neuropathy Recessive Intermediate B Charcot-Marie-Tooth Neuropathy, Recessive Intermediate B Ri-Cmt Type B Charcot-Marie-Tooth Disease, Recessive, Intermediate Type, B
Mitochondrial Complex V Deficiency, Nuclear Type 5	Mitochondrial Complex V Deficiency MC5DN5 Mitochondrial Complex V Deficiency, Atp5f1d Type Mitochondrial Complex V Deficiency Mitochondrial Complex 5 Deficiency Nuclear Type 5 Complex 5 Mitochondrial Respiratory Chain Deficiency Atp Synthase Deficiency Mitochondrial Complex V Deficiency, Nuclear Type 5 Complex V Deficiency
Myopathy, Lactic Acidosis, And Sideroblastic Anemia
Mitochondrial Disease	Mitochondrial Diseases Mitochondrial Disorder
Gait Apraxia
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
Pontocerebellar Hypoplasia, Type 6	Pontocerebellar Hypoplasia Type 6 PCH6 Fatal Infantile Encephalopathy With Mitochondrial Respiratory Chain Defects Encephalopathy, Fatal Infantile, With Mitochondrial Respiratory Chain Defects Encephalopathy Fatal Infantile With Mitochondrial Respiratory Chain Defects Pontocerebellar Hypoplasia 6 Hypoplasia, Pontocerebellar, Type 6
Hypertrophic Cardiomyopathy	Hypertrophic Obstructive Cardiomyopathy Cardiomyopathy, Hypertrophic Cardiomyopathy Hypertrophic Obstructive Cardiomyopathy, Hypertrophic, Familial Idiopathic Myocardial Hypertrophy Idiopathic Hypertrophic Cardiomyopathy Obstructive Idiopathic Hypertrophic Cardiomyopathy Obstructive Cardiomyopathy Idiopathic Hypertrophic Subaortic Stenosis Muscular Subaortic Stenosis Hypertrophic Obstructive Subaortic Stenosis
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
Cerebral Degeneration	Brain Degeneration Degenerative Brain Disorder
Metachromatic Leukodystrophy	Arylsulfatase A Deficiency MLD Arsa Deficiency Sulfatide Lipidosis Metachromatic Leukoencephalopathy Cerebral Sclerosis, Diffuse, Metachromatic Form Cerebroside Sulfatase Deficiency Leukodystrophy, Metachromatic Pseudoarylsulfatase A Deficiency Leukodystrophy Metachromatic Sulfatidosis Metachromatic Leukodystrophy, Late Infantile Metachromatic Leukodystrophy Variant Deficiency Of Cerebroside-Sulfatase Scholz Cerebral Sclerosis Sulfatide Lipoidosis Cerebral Sclerosis Diffuse Metachromatic Form Arylsulfatase A Deficiency Disease Cerebroside Sulphatase Deficiency Disease Greenfield Disease Metachromatic Leukodystrophy, Adult Metachromatic Leukodystrophy, Juvenile Leukodystrophy Metachromatic Adult Leukodystrophy Metachromatic Juvenile Leukodystrophy Metachromatic Late Infantile Metachromatic Leukodystrophy, Adult Type Metachromatic Leukodystrophy, Juvenile Type Metachromatic Leukodystrophy, Infant Greenfield'S Disease
Canavan Disease	Aspartoacylase Deficiency Aminoacylase 2 Deficiency Spongy Degeneration Of Central Nervous System Aspa Deficiency Acy2 Deficiency Canavan-Van Bogaert-Bertrand Disease Mild Canavan Disease Asp Deficiency Spongy Degeneration Of The Central Nervous System Severe Canavan Disease Von Bogaert-Bertrand Disease Canavan'S Disease Spongy Degeneration Of The Brain Juvenile Canavan Disease Infantile Canavan Disease Neonatal Canavan Disease CAND Disease, Canavan Canavan Disease, Juvenile Canavan Disease, Infantile Canavan Disease, Neonatal
Pontocerebellar Hypoplasia	Pch Congenital Pontocerebellar Hypoplasia Opch Hypoplasia, Pontocerebellar Pontoneocerebellar Hypoplasia Nonsyndromic Pontocerebellar Hypoplasia
Leukodystrophy	Leukodystrophies
Hypomyelinating Leukodystrophy	Hld Leukodystrophy, Hypomyelinating
Mitochondrial Myopathy	Mitochondrial Myopathies Mitochondrial Cytopathy Myopathies In Mitochondrial Disorders
Spastic Ataxia	Spax Ataxia, Spastic
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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	상품명	효과	Purity	Rare Diseases
HY-RS00029	AARS2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS00026	AAR2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21465	Aars2 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27983	Aars2 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	AARS2	MGD	MGI:2681839
Macaca mulatta	AARS2	VGNC	VGNC:69489
Rattus norvegicus	AARS2	RGD	RGD:1310617
Bos taurus	AARS2	VGNC	VGNC:25449
Felis catus	AARS2	VGNC	VGNC:59455
Canis familiaris	AARS2	VGNC	VGNC:37416
Others	AARS2	NCBI