VARS2 - valyl-tRNA synthetase 2, mitochondrial Gene

中文名称：缬氨酰-tRNA 合成酶 2，线粒体

种属: Homo sapiens

同用名: VALRS; VARSL; VARS2L; COXPD20

基因 ID: 57176 | 基因类型: protein coding

关于 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.

功能概要

该基因编码线粒体氨酰-tRNA 合成酶，它催化缬氨酸与 tRNA (Val) 的连接以进行线粒体翻译。该基因的突变导致联合氧化磷酸化缺陷 20，并且还与早发性线粒体脑病有关。该基因的可变剪接导致多个转录变体。[RefSeq 提供，2014 年 8 月]

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 基因产物(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

基因本体论

分子功能

分子功能 GO 注释	逻辑证据	参考文献	来源
enables protein binding	IPI IPI: 通过物理相互作用推断	25416956	GOA
enables valine-tRNA ligase activity	IMP IMP: 通过突变表型推断	24827421	GOA

EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

VARS2 蛋白结构

tRNA-synt_1

Anticodon_1

0
200
400
600
800
1000
1063 a.a.

蛋白主名

其他名称

valine--tRNA ligase, mitochondrial

valine tRNA ligase 2, mitochondrial (putative)

VARS2 蛋白互作信息

分类	蛋白名称	蛋白编号	互作蛋白	互作蛋白种属	互作蛋白编号	实验方法	参考文献
种属内	VARS2	Q5ST30	ABI2	Homo sapiens	Q9NYB9-2	Y2H Array	32296183
种属内	VARS2	Q5ST30	ABI2	Homo sapiens	Q9NYB9-2	Y2H Prey Pooling	32296183
种属内	VARS2	Q5ST30	ABI2	Homo sapiens	Q9NYB9-2	Validated Y2H	32296183
种属内	VARS2	Q5ST30	ABI1	Homo sapiens	Q8IZP0-5	Y2H Prey Pooling	32296183
种属内	VARS2	Q5ST30	ABI1	Homo sapiens	Q8IZP0-5	Validated Y2H	32296183
种属内	VARS2	Q5ST30	ABI1	Homo sapiens	Q8IZP0-5	Y2H Array	32296183
种属内	VARS2	Q5ST30	NCK2	Homo sapiens	O43639	Y2H Array	32296183
种属内	VARS2	Q5ST30	NCK2	Homo sapiens	O43639	Y2H Prey Pooling	32296183
种属内	VARS2	Q5ST30	SORBS3	Homo sapiens	O60504	Y2H Array	32296183
种属内	VARS2	Q5ST30	SORBS3	Homo sapiens	O60504	Y2H Prey Pooling	32296183
种属内	VARS2	Q5ST30	ABI3	Homo sapiens	Q9P2A4	Y2H Prey Pooling	32296183
种属内	VARS2	Q5ST30	ABI3	Homo sapiens	Q9P2A4	Validated Y2H	32296183
种属内	VARS2	Q5ST30	ABI3	Homo sapiens	Q9P2A4	Y2H Array	32296183

种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称

别名

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

疾病名称	别名
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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS15605	VARS2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 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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