2. Gene
  3. HARS2 - histidyl-tRNA synthetase 2, mitochondrial Gene

HARS2 - histidyl-tRNA synthetase 2, mitochondrial Gene

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

中文名称：组氨酰-tRNA 合成酶 2，线粒体

种属: Homo sapiens

同用名: HO3; HARSL; HARSR; HisRS; PRLTS2

基因 ID: 23438 | 基因类型: protein coding

关于 HARS2

Cytogenetic location: 5q31.3 Genomic coordinates (GRCh38): 5:140,691,455-140,699,305 (from NCBI)

This gene has 20 transcripts (splice variants), 225 orthologues, 1 paralogue and is associated with 2 phenotypes. Ubiquitous expression in colon (RPKM 9.6), endometrium (RPKM 9.1) and 25 other tissues.

功能概要

氨酰-tRNA 合成酶是一类用同源氨基酸给 tRNA 充电的酶。由该基因编码的蛋白质是属于氨酰-tRNA 合成酶 II 类家族的一种酶。该酶在组氨酰转移 RNA 的合成中起作用，在蛋白质生物合成的调节中起辅助作用。该基因与 HARS 在 5 号染色体上处于头对头方向，同源基因可能共享一个双向启动子。该基因的突变与 Perrault 综合征的发病机制相关，该综合征涉及卵巢发育不全和感音神经性听力损失。可变剪接导致该基因的多个转录变体。[RefSeq 提供，2013 年 7 月]

Aminoacyl-tRNA synthetases are a class of Enzymes that charge tRNAs with their cognate Amino acids. The protein encoded by this gene is an Enzyme belonging to the class II family of aminoacyl-tRNA synthetases. Functioning in the synthesis of histidyl-transfer RNA, the Enzyme plays an accessory role in the regulation of protein biosynthesis. The gene is located in a head-to-head orientation with HARS on chromosome five, where the homologous genes likely share a bidirectional promoter. Mutations in this gene are associated with the pathogenesis of Perrault syndrome, which involves ovarian dysgenesis and sensorineural hearing loss. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013]

HARS2 基因产物(5)

mRNA Protein Name
NM_001278731.2 NP_001265660.1 histidine--tRNA ligase, mitochondrial isoform 2 precursor
NM_001278732.2 NP_001265661.1 histidine--tRNA ligase, mitochondrial isoform 3
NM_001363535.2 NP_001350464.1 histidine--tRNA ligase, mitochondrial isoform 4 precursor
NM_001363536.2 NP_001350465.1 histidine--tRNA ligase, mitochondrial isoform 5
NM_012208.4 NP_036340.1 histidine--tRNA ligase, mitochondrial isoform 1 precursor
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables histidine-tRNA ligase activity IDA
IDA: 通过直接分析推断
21464306 GOA
enables identical protein binding IPI
IPI: 通过物理相互作用推断
21464306 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
25416956 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in histidyl-tRNA aminoacylation IDA
IDA: 通过直接分析推断
21464306 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in mitochondrion IDA
IDA: 通过直接分析推断
21464306 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

HARS2 蛋白结构

tRNA-synt_His

tRNA-synt_His: Histidyl-tRNA synthetase (62 - 390)

HGTP_anticodon

HGTP_anticodon: Anticodon binding domain (411 - 501)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 506 a.a.
蛋白主名 其他名称

histidine--tRNA ligase, mitochondrial

HARS-related

HARS2 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
HARS2 P49590 AGTRAP Homo sapiens Q6RW13
Validated Y2H
25416956
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
Perrault Syndrome 2

PRLTS2

Perrault Syndrome, Type 2
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
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
Bagassosis

Sugar Cane Worker Pneumonitis

Bagasse Workers' Lung

Bagasse Disease

Bagasse Disease Or Pneumonitis

Bagasse Workers' Disease

Fibrosis Of Lung With Bagassosis

Sugar Cane Workers' Hypersensitivity Pneumonitis

Bagasse Pneumonitis

Hypersensitivity Pneumonitis With Bagassosis
Antisynthetase Syndrome

As Syndrome

Anti-Jo1 Syndrome
Developmental And Epileptic Encephalopathy 75

DEE75

Epileptic Encephalopathy, Early Infantile, 75

Eiee75

Developmental And Epileptic Encephalopathy, 75

Early Infantile Epileptic Encephalopathy 75
Charcot-Marie-Tooth Disease, Axonal, Type 2w

CMT2W

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2w

Charcot-Marie-Tooth Neuropathy, Type 2w

Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2w

Charcot-Marie-Tooth Disease, Axonal Type 2w

Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Type 2w

Charcot-Marie-Tooth Neuropathy Type 2w

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To Hars Mutation

Charcot-Marie-Tooth Disease 2w
46 Xx Gonadal Dysgenesis

Ovarian Dysgenesis

Gonadal Dysgenesis, 46,Xx

Dysgenesis, Ovarian
Charcot-Marie-Tooth Disease, Recessive Intermediate B

Charcot-Marie-Tooth Disease Recessive Intermediate B

CMTRIB

Ri-Cmtb

Charcot-Marie-Tooth Disease, Recessive Intermediate, B

Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease Type B

Charcot-Marie-Tooth Neuropathy Recessive Intermediate B

Charcot-Marie-Tooth Neuropathy, Recessive Intermediate B

Ri-Cmt Type B

Charcot-Marie-Tooth Disease, Recessive, Intermediate Type, B
Charcot-Marie-Tooth Disease, Axonal, Type 2e

Charcot-Marie-Tooth Disease Type 2

CMT2E

CMT2S

CMT2Y

Charcot-Marie-Tooth Disease Type 2e

Charcot-Marie-Tooth Disease Type 2y

Charcot-Marie-Tooth Disease Axonal Type 2s

Charcot-Marie-Tooth Disease, Axonal, Type 2s

Charcot-Marie-Tooth Disease, Type 2e

Hereditary Motor And Sensory Neuropathy Type 2

Charcot-Marie-Tooth Neuropathy, Type 2s

Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2s

Charcot-Marie-Tooth Disease, Axonal, Type 2y

Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2y

Charcot-Marie-Tooth Neuropathy, Type 2y

Charcot-Marie-Tooth Disease, Type 2y

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2e

Charcot-Marie-Tooth Neuropathy Type 2e

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To Vcp Mutation

Cmt2 Due To Vcp Mutation

Charcot-Marie-Tooth Disease Type 2s

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2

Autosomal Dominant Axonal Charcot-Marie-Tooth Disease

Cmt2

Charcot-Marie-Tooth Neuropathy, Type 2e

Hereditary Motor And Sensory Neuropathy Guadalajara Neuronal Type

Hereditary Motor And Sensory Neuropathy Okinawa Type

Autosomal Dominant Axonal Charcot-Marie-Tooth Type 2y

Charcot-Marie-Tooth Neuropathy Type 2y

Autosomal Recessive Axonal Charcot-Marie-Tooth Type 2s

Charcot-Marie-Tooth Neuropathy Type 2s

Charcot-Marie-Tooth Type 2

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2y

Charcot-Marie-Tooth Disease 2e

Charcot-Marie-Tooth Disease Axonal Type 2e

Charcot-Marie-Tooth Disease Neuronal Type 2e

Charcot-Marie-Tooth Disease 2s

Charcot-Marie-Tooth Neuropathy Axonal Type 2s

Charcot-Marie-Tooth Disease 2y

Charcot-Marie-Tooth Disease, Type 2

Hereditary Motor And Sensory-Neuropathy Type Ii
Neuronopathy, Distal Hereditary Motor, Type Va

Dsmav

Distal Hereditary Motor Neuropathy Type V

Young Adult-Onset Distal Hereditary Motor Neuropathy

Neuronopathy, Distal Hereditary Motor, Type V

Distal Hereditary Motor Neuronopathy Type 5

Dhmn5

Distal Spinal Muscular Atrophy Type 5

HMN5A

Hmn5

Dhmn5a

Dhmn Va

Dsmava

Spinal Muscular Atrophy, Distal, With Upper Limb Predominance

Distal Hmn V

Autosomal Recessive Distal Spinal Muscular Atrophy Type 5

Dsma5

Young Adult-Onset Dhmn

Dhmn-V

Hmn V

Neuronopathy, Distal Hereditary Motor, Type 5a

Hmn 5a

Neuropathy, Distal Hereditary Motor, Type Va

Spinal Muscular Atrophy, Distal, Type Va

Spinal Muscular Atrophy, Distal, Type V

Distal Spinal Muscular Atrophy Type V

Distal Spinal Muscular Atrophy With Upper Limb Predominance

Distal Hereditary Motor Neuronopathy Type 5a

Distal Hmn Va

Distal Spinal Muscular Atrophy Type Va

Distal Hereditary Motor Neuropathy, Type V

Distal Hereditary Motor Neuronopathy, Type V

Distal Spinal Muscular Atrophy, Type V

Spinal Muscular Atrophy, Distal Type V

Distal Hereditary Motor Neuropathy Type 5

Neuronopathy, Distal Hereditary Motor, 5a

Dhmn V

Distal Hereditary Motor Neuronopathy Type Va

Distal Hereditary Motor Neuropathy Type Va

Dsma-V

Hmn Va

Spinal Muscular Atrophy Distal Type V

Spinal Muscular Atrophy Distal Type Va

Spinal Muscular Atrophy Distal With Upper Limb Predominance

Neuropathy, Distal Hereditary Motor, Type V

Neuropathy, Motor, Distal, Hereditary, Type Va
Usher Syndrome, Type I

USH1

Usher Syndrome Type 1

Us1

Usher Syndrome, Type 1b

Usher Syndrome Type 1e

Retinitis Pigmentosa And Congenital Deafness

Usher Syndrome, Type Ie

USH1E

Usher Syndrome, Type 1e

Usher Syndrome, Type 1a

Usher Syndrome, Type Ib

Usher Syndrome Type 1b

Usher Syndrome Type Ie

Usher Syndrome Type I

Usher 1

Usher Syndrome, Type 1

Ush1a

Usher Syndrome, Type I, French Variety

Usher Syndrome, Type Ia

Usher Syndrome 1b

USH1B

Usher'S Syndrome Type 1b

Usher Syndrome Type Ib

Ushib
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-RS06005 HARS2 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus HARS2 RGD RGD:1308426
Canis familiaris HARS2 VGNC VGNC:41598
Felis catus HARS2 VGNC VGNC:102222
Macaca mulatta HARS2 VGNC VGNC:73346
Mus musculus HARS2 MGD MGI:1918041
Bos taurus HARS2 VGNC VGNC:29754
Others HARS2 NCBI
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