1. Gene
  2. NARS2 - asparaginyl-tRNA synthetase 2, mitochondrial Gene

NARS2 - asparaginyl-tRNA synthetase 2, mitochondrial Gene

中文名称:天冬酰胺-tRNA 合成酶 2,线粒体

种属: Homo sapiens

同用名: SLM5; asnRS; DFNB94

基因 ID: 79731 | 基因类型: protein coding

关于 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.

功能概要

该基因编码氨酰-tRNA 合成酶 II 类家族的一个推定成员。这些酶通过用其同源氨基酸充电 tRNA,在蛋白质生物合成中发挥关键作用。这种蛋白质由核基因组编码,但很可能被输入到线粒体中,在那里它被认为催化天冬酰胺与 tRNA 分子的连接。该基因的突变与联合氧化磷酸化缺陷 24 (COXPD24) 有关。[RefSeq 提供,2015 年 3 月]

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 基因产物(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 蛋白结构

tRNA_anti-codon

tRNA_anti-codon: OB-fold nucleic acid binding domain (45 - 118)

tRNA-synt_2

tRNA-synt_2: tRNA synthetases class II (D, K and N) (137 - 471)

  • 0
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  • 400
  • 477 a.a.
蛋白主名 其他名称

probable asparagine--tRNA ligase, mitochondrial

asparagine tRNA ligase 2, mitochondrial (putative)

关联疾病

疾病名称 别名
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

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

直系同源

种属 基因名 来源 基因 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