NARS2 - asparaginyl-tRNA synthetase 2, mitochondrial Gene

Also Known as SLM5; asnRS; DFNB94

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 79731

About NARS2

Cytogenetic location: 11q14.1 Genomic coordinates (GRCh38): 11:78,435,968-78,574,864 (from NCBI)

This gene has 36 transcripts (splice variants), 193 orthologues, 4 paralogues and is associated with 5 phenotypes. Ubiquitous expression in kidney (RPKM 4.7), thyroid (RPKM 3.7) and 25 other tissues.

Summary

This gene encodes a putative member of the class II family of aminoacyl-tRNA synthetases. These Enzymes play a critical role in protein biosynthesis by charging tRNAs with their cognate Amino acids. This protein is encoded by the nuclear genome but is likely to be imported to the mitochondrion where it is thought to catalyze the ligation of asparagine to tRNA molecules. Mutations in this gene have been associated with combined Oxidative Phosphorylation deficiency 24 (COXPD24). [provided by RefSeq, Mar 2015]

NARS2 Products (2)

mRNA	Protein	Name
NM_001243251.2	NP_001230180.1	probable asparagine--tRNA ligase, mitochondrial isoform 2
NM_024678.6	NP_078954.4	probable asparagine--tRNA ligase, mitochondrial isoform 1 precursor

NARS2 Protein Structure

tRNA_anti-codon

tRNA-synt_2

0
100
200
300
400
477 a.a.

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

Related Diseases

Diseases	Alias
Combined Oxidative Phosphorylation Deficiency 24	COXPD24 Combined Oxidative Phosphorylation Defect Type 24 Oxidative Phosphorylation Deficiency, Combined, Type 24
Deafness, Autosomal Recessive 94	DFNB94 Autosomal Recessive Nonsyndromic Deafness 94 Autosomal Recessive Deafness 94 Deafness, Autosomal Recessive, 94
Combined Oxidative Phosphorylation Deficiency 1	Hepatoencephalopathy Due To Combined Oxidative Phosphorylation Defect Type 1 COXPD1 Early Fatal Progressive Hepatoencephalopathy Hepatoencephalopathy Due To Coxpd1 Combined Oxidative Phosphorylation Deficiency, Type 1 Hepatoencephalopathy, Early Fatal Progressive Hepatoencephalopathy Early Fatal Progressive
Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb	Autosomal Recessive Isolated Neurosensory Deafness Type Dfnb Autosomal Recessive Isolated Neurosensory Hearing Loss Type Dfnb Autosomal Recessive Isolated Sensorineural Deafness Type Dfnb Autosomal Recessive Isolated Sensorineural Hearing Loss Type Dfnb Autosomal Recessive Non-Syndromic Neurosensory Deafness Type Dfnb Autosomal Recessive Non-Syndromic Neurosensory Hearing Loss Type Dfnb Autosomal Recessive Non-Syndromic Sensorineural Hearing Loss Type Dfnb
Combined Oxidative Phosphorylation Deficiency
Combined Oxidative Phosphorylation Deficiency 15	COXPD15 Combined Oxidative Phosphorylation Defect Type 15 Combined Oxidative Phosphorylation Deficiency, Type 15
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
Developmental And Epileptic Encephalopathy 75	DEE75 Epileptic Encephalopathy, Early Infantile, 75 Eiee75 Developmental And Epileptic Encephalopathy, 75 Early Infantile Epileptic Encephalopathy 75
Galloway-Mowat Syndrome 5	GAMOS5
Deafness, Autosomal Recessive 89	DFNB89 Autosomal Recessive Nonsyndromic Deafness 89 Autosomal Recessive Deafness 89 Deafness, Autosomal Recessive, 89 Deafness, Autosomal Recessive, Type 89
Filarial Elephantiasis	Lymphatic Filariasis Elephantiasis Filariasis Bancroftian Elephantiasis Bancroftian Filarial Chyluria Elephantiasis Of Eyelid Bancroftian Filariasis Elephantitis Malayi Tropical Eosinphilia Wuchereria Bancrofti Infection Wuchereriasis Elephantiasis, Filarial Filarial Elephantiases Infection By Wuchereria Bancrofti Filarial Lymphangitis Tropical Elephantiasis Filarial Chylocele
Combined Oxidative Phosphorylation Deficiency 20	COXPD20 Combined Oxidative Phosphorylation Defect Type 20 Oxidative Phosphorylation Deficiency, Combined, Type 20
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
Mitochondrial Dna Depletion Syndrome 4a	Alpers Syndrome Alpers-Huttenlocher Syndrome Alpers Progressive Infantile Poliodystrophy Alpers Diffuse Degeneration Of Cerebral Gray Matter With Hepatic Cirrhosis Alpers Disease Progressive Sclerosing Poliodystrophy Pndc Diffuse Cerebral Sclerosis Of Schilder MTDPS4A Neuronal Degeneration Of Childhood With Liver Disease, Progressive Alper'S Syndrome Alpers' Disease Or Gray-Matter Degeneration Diffuse Cerebral Degeneration In Infancy Infantile Poliodystrophy Poliodystrophia Cerebri Progressiva Progressive Cerebral Poliodystrophy Alpers' Disease Alpers Progressive Sclerosing Poliodystrophy Progressive Neuronal Degeneration Of Childhood With Liver Disease Ahs Mitochondrial Dna Depletion Syndrome 4a Alpers Type Neuronal Degeneration Of Childhood With Liver Disease Progressive
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 Dna Depletion Syndrome	Mtdna Depletion Syndrome
Pontocerebellar Hypoplasia	Pch Congenital Pontocerebellar Hypoplasia Opch Hypoplasia, Pontocerebellar Pontoneocerebellar Hypoplasia Nonsyndromic Pontocerebellar Hypoplasia
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly
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

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-RS09037	NARS2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	NARS2	VGNC	VGNC:49559
Felis catus	NARS2	VGNC	VGNC:63725
Rattus norvegicus	NARS2	RGD	RGD:1305145
Macaca mulatta	NARS2	VGNC	VGNC:75028
Mus musculus	NARS2	MGD	MGI:2142075
Others	NARS2	NCBI