2. Gene
  3. VARS2 - valyl-tRNA synthetase 2, mitochondrial Gene

VARS2 - valyl-tRNA synthetase 2, mitochondrial Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

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

VARS2 蛋白结构

tRNA-synt_1

tRNA-synt_1: tRNA synthetases class I (I, L, M and V) (113 - 734)

Anticodon_1

Anticodon_1: Anticodon-binding domain of tRNA (779 - 927)

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  • 1063 a.a.
蛋白主名 其他名称

valine--tRNA ligase, mitochondrial

valine tRNA ligase 2, mitochondrial (putative)

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

相关产品

Pre-clinical Phase
生物活性分子 (1)
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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