2. Gene
  3. PARS2 - prolyl-tRNA synthetase 2, mitochondrial Gene

PARS2 - prolyl-tRNA synthetase 2, mitochondrial Gene

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

中文名称：脯氨酰-tRNA 合成酶 2，线粒体

种属: Homo sapiens

同用名: DEE75; proRS; EIEE75; MT-PRORS

基因 ID: 25973 | 基因类型: protein coding

关于 PARS2

Cytogenetic location: 1p32.3 Genomic coordinates (GRCh38): 1:54,756,898-54,764,523 (from NCBI)

This gene has 1 transcript (splice variant), 179 orthologues, 4 paralogues and is associated with 2 phenotypes. Ubiquitous expression in testis (RPKM 3.4), ovary (RPKM 2.8) and 24 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脯氨酸与 tRNA 分子的连接。在一些 Alpers 综合征患者中发现了该基因的突变。[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 proline to tRNA molecules. Mutations have been found in this gene in some patients with Alpers syndrome. [provided by RefSeq, Mar 2015]

PARS2 基因产物(1)

mRNA Protein Name
NM_152268.4 NP_689481.2 probable proline--tRNA ligase, mitochondrial precursor

PARS2 蛋白结构

tRNA-synt_2b

tRNA-synt_2b: tRNA synthetase class II core domain (G, H, P, S and T) (99 - 264)

HGTP_anticodon

HGTP_anticodon: Anticodon binding domain (371 - 445)

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

probable proline--tRNA ligase, mitochondrial

proline tRNA ligase 2, mitochondrial (putative)

关联疾病

疾病名称 别名
Developmental And Epileptic Encephalopathy 75

DEE75

Epileptic Encephalopathy, Early Infantile, 75

Eiee75

Developmental And Epileptic Encephalopathy, 75

Early Infantile Epileptic Encephalopathy 75
Non-Specific Early-Onset Epileptic Encephalopathy

Undetermined Early-Onset Epileptic Encephalopathy

Non-Specific Eoee

Undetermined Eoee
Spastic Paraplegia 25, Autosomal Recessive

SPG25

Hereditary Spastic Paraplegia 25

Autosomal Recessive Spastic Paraplegia Type 25

Spastic Paraplegia 25

Disc Herniation With Spastic Paraplegia, Autosomal Recessive

Autosomal Recessive Spastic Paraplegia 25

Spinal Disc Herniation With Autosomal Recessive Spastic Paraplegia

Autosomal Recessive Spastic Paraplegia-Disc Herniation Syndrome
Chronic Frontal Sinusitis
Acute Ethmoiditis

Acute Ethmoidal Sinusitis

Acute Ethmoid Sinusitis

Ethmoidal Sinus - Acute
Deafness, Autosomal Recessive 94

DFNB94

Autosomal Recessive Nonsyndromic Deafness 94

Autosomal Recessive Deafness 94

Deafness, Autosomal Recessive, 94
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
Developmental And Epileptic Encephalopathy

Encephalopathy, Developmental And Epileptic
Hypomyelinating Leukodystrophy

Hld

Leukodystrophy, Hypomyelinating
Early Infantile Epileptic Encephalopathy

Early Infantile Epileptic Encephalopathy With Burst-Suppression

Early Infantile Epileptic Encephalopathy With Suppression Bursts

Eiee

Early Infantile Epileptic Encephalopathy With Suppression-Bursts

Ohtahara Syndrome

Encephalopathy, Epileptic, Early Infantile
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 (36)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-129047 Trypsin Activator / 否
HY-P1314 2-Furoyl-LIGRLO-amide Agonist 99.87% 否
HY-112558 AZ3451 Antagonist 99.84% 否
HY-P1308 SLIGRL-NH2 Agonist 99.98% 否
HY-P1309A PAR-4 Agonist Peptide, amide TFA Agonist 99.70% 否
HY-P0283 Protease-Activated Receptor-2, amide Agonist 98.73% 否
HY-P1309 PAR-4 Agonist Peptide, amide Agonist 99.48% 否
HY-123617 AZ8838 Antagonist 98.87% 否
HY-120261 GB-88 Inhibitor 99.05% 否
HY-120528A GB-110 hydrochloride Agonist 99.86% 否
HY-P1260 FSLLRY-NH2 Inhibitor 98.52% 否
HY-117793 I-191 Antagonist 99.14% 否
HY-129047A Trypsin (MS grade) Activator 95.00% 否
HY-124748A ENMD-1068 hydrochloride 98.33% 否
HY-14350 AC-55541 Agonist 99.25% 否
HY-P1260A FSLLRY-NH2 TFA Inhibitor 99.43% 否
HY-P4803 PAR-2 (1-6) (human) Agonist 99.49% 否
HY-138558 PAR-2-IN-1 Inhibitor 99.79% 否
HY-148016 I-287 Inhibitor 99.36% 否
HY-108556A RWJ-56110 dihydrochloride 99.54% 否
HY-14351 AC-264613 Agonist 98.3% 否
HY-124061 GB83 Antagonist 99.80% 否
HY-P1310 VKGILS-NH2 Agonist 99.81% 否
HY-120528 GB-110 Agonist / 否
HY-108556 RWJ-56110 / 否
HY-111214 K-14585 / 否
HY-122049 ENMD-1068 hydrobromide Antagonist / 否
HY-124748 ENMD-1068 / 否
HY-138951 AY77 Agonist / 否
HY-162762 PAR-2 antagonist 1 Antagonist / 否
HY-P1308A SLIGRL-NH2 TFA Agonist / 否
HY-P1310A VKGILS-NH2 TFA Agonist / 否
HY-P1314A 2-Furoyl-LIGRLO-amide TFA Agonist / 否
HY-P3259 AY254 Agonist / 否
HY-P5372 Ala-parafluoroPhe-Arg-Cha-Cit-Tyr-NH2 Agonist / 否
HY-RS10073 PARS2 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 PARS2 RGD RGD:1305345
Felis catus PARS2 VGNC VGNC:64044
Bos taurus PARS2 VGNC VGNC:49561
Macaca mulatta PARS2 VGNC VGNC:75707
Mus musculus PARS2 MGD MGI:2386296
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