NARS2 - asparaginyl-tRNA synthetase 2, mitochondrial Gene

Homo sapiens

Also known as SLM5; asnRS; DFNB94

Gene ID: 79731 | Gene type: protein coding

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS09037	NARS2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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