MARS2 - methionyl-tRNA synthetase 2, mitochondrial Gene

Also Known as MetRS; COXPD25; mtMetRS

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 92935

About MARS2

Cytogenetic location: 2q33.1 Genomic coordinates (GRCh38): 2:197,705,369-197,708,395 (from NCBI)

This gene has 1 transcript (splice variant), 185 orthologues, 7 paralogues and is associated with 4 phenotypes.

Summary

This gene produces a mitochondrial methionyl-tRNA synthetase protein that is encoded by the nuclear genome and imported to the mitochondrion. This protein likely functions as a monomer and is predicted to localize to the mitochondrial matrix. Mutations in this gene are associated with the autosomal recessive neurodegenerative disease spastic ataxia-3 (SPAX3). [provided by RefSeq, Apr 2014]

MARS2 Products (1)

mRNA	Protein	Name
NM_138395.4	NP_612404.1	methionine--tRNA ligase, mitochondrial precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables methionine-tRNA ligase activity	IDA IDA: Inferred from direct assay	15274629	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in methionyl-tRNA aminoacylation	IDA IDA: Inferred from direct assay	15274629	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in mitochondrial matrix	IDA IDA: Inferred from direct assay	15274629	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

MARS2 Protein Structure

tRNA-synt_1g

0
100
200
300
400
500
593 a.a.

Protein Preferred Names	Protein Names
methionine--tRNA ligase, mitochondrial	methionine tRNA ligase 2, mitochondrial

Related Diseases

Diseases	Alias
Combined Oxidative Phosphorylation Deficiency 25	COXPD25 Combined Oxidative Phosphorylation Defect Type 25 Oxidative Phosphorylation Deficiency, Combined, Type 25
Spastic Ataxia 3, Autosomal Recessive	SPAX3 Autosomal Recessive Spastic Ataxia With Leukoencephalopathy Arsal Autosomal Recessive Spastic Ataxia Type 3 Ataxia, Spastic 3, Autosomal Recessive Ataxia, Spastic, 3, Autosomal Recessive
Spastic Ataxia 3
Developmental And Epileptic Encephalopathy 29	DEE29 Epileptic Encephalopathy, Early Infantile, 29 Eiee29 Developmental And Epileptic Encephalopathy, 29 Early Infantile Epileptic Encephalopathy 29 Encephalopathy, Developmental And Epileptic, Type 29
Spastic Ataxia	Spax Ataxia, Spastic
Charcot-Marie-Tooth Disease, Axonal, Type 2u	CMT2U Charcot-Marie-Tooth Disease Axonal Type 2u Charcot-Marie-Tooth Neuropathy, Type 2u Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2u Autosomal Dominant Charcot-Marie-Tooth Disease Type 2u Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Type 2u Charcot-Marie-Tooth Neuropathy Type 2u Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To Mars Mutation Charcot-Marie-Tooth Disease 2u
Combined Oxidative Phosphorylation Deficiency
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
Spastic Ataxia 2
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
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
Infantile Liver Failure Syndrome	Infantile Liver Failure
Charcot-Marie-Tooth Disease, Dominant Intermediate C	CMTDIC Charcot-Marie-Tooth Disease Dominant Intermediate C Di-Cmtc Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type C Charcot-Marie-Tooth Neuropathy, Dominant Intermediate C Charcot-Marie-Tooth Neuropathy Dominant Intermediate C Charcot-Marie-Tooth Disease, Dominant, Intermediate Type, C Charcot-Marie-Tooth Disease, Dominant Intermediate, Type C
Charcot-Marie-Tooth Disease, Axonal, Type 2d	Charcot-Marie-Tooth Disease Type 2d CMT2D Charcot-Marie-Tooth Disease, Type 2d Autosomal Dominant Charcot-Marie-Tooth Disease Type 2d Charcot-Marie-Tooth Disease Neuronal Type 2d Charcot-Marie-Tooth Neuropathy Type 2d Charcot-Marie-Tooth Disease, Neuronal, Type 2d Charcot-Marie-Tooth Neuropathy, Type 2d Charcot-Marie-Tooth Disease 2d Charcot-Marie-Tooth Disease Axonal Type 2d
Vulto-Van Silfhout-De Vries Syndrome	Vulto-Van Silfout-De Vries Syndrome VSVS Intellectual Developmental Disorder With Impaired Expressive Speech And Behavioral Abnormalities, With Or Without Seizures Iddisbas Mrd24 Mental Retardation, Autosomal Dominant 24 Autosomal Dominant Mental Retardation 24 Autosomal Dominant Non-Syndromic Intellectual Disability 24 Mental Retardation, Autosomal Dominant, Type 24
Mild Cognitive Impairment
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
Arthrogryposis, Distal, Type 1a	Distal Arthrogryposis Type 1 Digitotalar Dysmorphism DA1A Da1 Amcd1 Arthrogryposis, Distal, Type 2b4 Distal Arthrogryposis Type 1a Arthrogryposis, Distal, Type 1 Arthrogryposis Multiplex Congenita Distal Type 1 Arthrogryposis Multiplex Congenita, Distal Type 1 Arthrogryposis Multiplex Congenita, Distal, Type I Distal Arthrogryposis Type 1b Arthrogryposis, Distal, 1a Amc Arthrogryposis Multiplex Congenita Arthrogryposis, Distal, 2b4 DA2B4 Arthrogryposis Multiplex Congenita, Distal, Type 1 Arthrogryposis
Charcot-Marie-Tooth Disease Intermediate Type	Intermediate Charcot-Marie-Tooth Disease Charcot-Marie-Tooth Disease Dominant Intermediate Charcot-Marie-Tooth Disease Recessive Intermediate Intermediate Cmt Intermediate Hereditary Motor And Sensory Neuropathy Charcot-Marie-Tooth Disease, Intermediate Type Charcot-Marie-Tooth, Intermediate
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	Pch Congenital Pontocerebellar Hypoplasia Opch Hypoplasia, Pontocerebellar Pontoneocerebellar Hypoplasia Nonsyndromic Pontocerebellar Hypoplasia
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
Hereditary Spastic Paraplegia	Familial Spastic Paraplegia Hereditary Spastic Paraparesis Strumpell-Lorrain Disease Familial Spastic Paraparesis Hsp Spg Strümpell-Lorrain Disease Spastic Paraplegia, Hereditary French Settlement Disease Strumpell-Lorrain Syndrome Fsp Spastic Paraplegia, Familial Spastic Paraplegia Hereditary Spastic Paraplegia 3, Autosomal Dominant Spastic Paraparesis Hereditary Spastic Paralysis Familial Spastic Paralysis Hereditary Spastic Ataxia

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 (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS08154	MARS2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	MARS2	VGNC	VGNC:31251
Mus musculus	MARS2	MGD	MGI:2444136
Felis catus	MARS2	VGNC	VGNC:63391
Macaca mulatta	MARS2	VGNC	VGNC:74572
Rattus norvegicus	MARS2	RGD	RGD:1311527
Canis familiaris	MARS2	VGNC	VGNC:43028
Others	MARS2	NCBI