VARS2 - valyl-tRNA synthetase 2, mitochondrial Gene

Homo sapiens

Also known as VALRS; VARSL; VARS2L; COXPD20

Gene ID: 57176 | Gene type: protein coding

About VARS2

Cytogenetic location: 6p21.33 Genomic coordinates (GRCh38): 6:30,914,238-30,926,459 (from NCBI)

This gene has 13 transcripts (splice variants), 1 gene allele, 180 orthologues, 7 paralogues and is associated with 1 phenotype. Ubiquitous expression in brain (RPKM 7.4), esophagus (RPKM 6.1) and 25 other tissues.

Summary

This gene encodes a mitochondrial Aminoacyl-tRNA Synthetase, which catalyzes the attachment of valine to tRNA(Val) for mitochondrial translation. Mutations in this gene cause combined Oxidative Phosphorylation deficiency-20, and are also associated with early-onset mitochondrial encephalopathies. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2014]

VARS2 Products(3)

mRNA	Protein	Name
NM_001167733.3	NP_001161205.1	valine--tRNA ligase, mitochondrial isoform 3
NM_001167734.2	NP_001161206.1	valine--tRNA ligase, mitochondrial isoform 1
NM_020442.6	NP_065175.4	valine--tRNA ligase, mitochondrial isoform 2 precursor

VARS2 Protein Structure

tRNA-synt_1

Anticodon_1

0
200
400
600
800
1000
1063 a.a.

Protein Preferred Names

Protein Names

valine--tRNA ligase, mitochondrial

valine tRNA ligase 2, mitochondrial (putative)

Related Diseases

Diseases

Alias

Combined Oxidative Phosphorylation Deficiency 20

COXPD20	Combined Oxidative Phosphorylation Defect Type 20
Oxidative Phosphorylation Deficiency, Combined, Type 20

Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy

NDMSCA

Neurodevelopmental Disorder With Microcephaly, Seizures, Cortical Atrophy

Combined Oxidative Phosphorylation Deficiency

Combined Oxidative Phosphorylation Deficiency 23

COXPD23	Combined Oxidative Phosphorylation Defect Type 23
Oxidative Phosphorylation Deficiency, Combined, Type 23

Combined Oxidative Phosphorylation Deficiency 2

COXPD2	Combined Oxidative Phosphorylation Defect Type 2
Agenesis Of Corpus Callosum With Dysmorphism And Fatal Lactic Acidosis	Corpus Callosum, Agenesis Of, With Dysmorphism And Fatal Lactic Acidosis
Combined Oxidative Phosphorylation Deficiency, Type 2

Combined Oxidative Phosphorylation Deficiency 24

COXPD24	Combined Oxidative Phosphorylation Defect Type 24
Oxidative Phosphorylation Deficiency, Combined, Type 24

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 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

Epilepsy

Epilepsy Syndrome	Epileptic Syndrome
Epilepsies	Symptomatic Epilepsies
Post Traumatic Epilepsy	Traumatic Epilepsy
Traumatic Epileptic	Epilepsy Due To Hippocampal Sclerosis
Epilepsy With Ammon'S Horn Sclerosis	Epilepsy Due To Cortical Dysplasia
Epilepsy Due To Neuronal Migration Disorders

Ptosis

Blepharoptosis	Drooping Eyelid
Droopy Eyelid	Ptosis Of Eyelid
Paralysis Of Levator Palpebrae Superioris

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

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

Spastic Ataxia

Spax	Ataxia, Spastic

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

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

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-RS15605	VARS2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	VARS2	VGNC	VGNC:48232
Bos taurus	VARS2	VGNC	VGNC:36766
Mus musculus	VARS2	MGD	MGI:1916165
Macaca mulatta	VARS2	VGNC	VGNC:83965
Rattus norvegicus	VARS2	RGD	RGD:1303122
Felis catus	VARS2	VGNC	VGNC:66920

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