2. Gene
  3. SARS2 - seryl-tRNA synthetase 2, mitochondrial Gene

SARS2 - seryl-tRNA synthetase 2, mitochondrial Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品

中文名称：seryl-tRNA 合成酶 2，线粒体

种属: Homo sapiens

同用名: SYS; SARS; SERS; SARSM; SerRS; SerRSmt; mtSerRS

基因 ID: 54938 | 基因类型: protein coding

关于 SARS2

Cytogenetic location: 19q13.2 Genomic coordinates (GRCh38): 19:38,915,266-38,930,763 (from NCBI)

This gene has 14 transcripts (splice variants), 1 gene allele, 190 orthologues, 1 paralogue and is associated with 3 phenotypes. Ubiquitous expression in thyroid (RPKM 6.7), placenta (RPKM 5.6) and 25 other tissues.

功能概要

该基因编码线粒体 seryl-tRNA 合成酶前体，是 II 类 tRNA 合成酶家族的成员。成熟的酶催化丝氨酸与 tRNA (Ser) 的连接，并参与线粒体中硒代半胱氨酰-tRNA (sec) 的生物合成。该酶包含一个 N 端 tRNA 结合域和一个核心催化域。它以同型二聚体形式发挥作用，通过 tRNA 结合稳定。该基因受双向启动子的调控，该启动子还控制线粒体核糖体蛋白 S12 的表达。这两个基因都在常染色体显性耳聋基因座 DFNA4 的临界区间内，可能与这种疾病有关。已经为该基因鉴定了编码不同亚型的多个转录物变体。[RefSeq 提供，2009 年 3 月]

This gene encodes the mitochondrial seryl-tRNA synthethase precursor, a member of the class II tRNA synthetase family. The mature Enzyme catalyzes the ligation of Serine to tRNA(Ser) and participates in the biosynthesis of selenocysteinyl-tRNA(sec) in mitochondria. The Enzyme contains an N-terminal tRNA binding domain and a core catalytic domain. It functions in a homodimeric form, which is stabilized by tRNA binding. This gene is regulated by a bidirectional promoter that also controls the expression of mitochondrial ribosomal protein S12. Both genes are within the critical interval for the autosomal dominant deafness locus DFNA4 and might be linked to this disease. Multiple transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Mar 2009]

SARS2 基因产物(2)

mRNA Protein Name
NM_001145901.2 NP_001139373.1 serine--tRNA ligase, mitochondrial isoform a precursor
NM_017827.4 NP_060297.1 serine--tRNA ligase, mitochondrial isoform b 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
32296183 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

SARS2 蛋白结构

tRNA-synt_2b

tRNA-synt_2b: tRNA synthetase class II core domain (G, H, P, S and T) (239 - 411)

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

serine--tRNA ligase, mitochondrial

mitochondrial seryl-tRNA synthetase

关联疾病

疾病名称 别名
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome

Hupra Syndrome

Alkalosis

HUPRAS

Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis

Hyperuricemia, Pulmonary Hypertension, Renal Failure, Alkalosis Syndrome

Hyperuricemia-Pulmonary Hypertension-Renal Failure-Alkalosis Syndrome

Alkalosis Nos
Hyperuricemia

Blood Urate Raized

Uricacidemia
Epithelioid Cell Synovial Sarcoma

Synovial Sarcoma, Epithelioid Cell

Epithelioid Synovial Sarcoma
Pulmonary Hypertension

Primary Pulmonary Hypertension

Hypertension Pulmonary

Hypertension, Pulmonary

Hypertension, Pulmonary, Primary

Idiopathic Pulmonary Hypertension

Idiopathic Pulmonary Arterial Hypertension

Pulmonary Htn - [Hypertension]
Septal Myocardial Infarction
Capillariasis

Capillaria Infection

Enoplida Infections

Capillariasis Nos

Capillariosis
Acute Stress Disorder

Traumatic Stress Disorder

Stress Disorders, Traumatic, Acute

Stress Disorders, Traumatic
Venezuelan Hemorrhagic Fever

Guanarito Hemorrhagic Fever

Vehf - [Venezuelan Haemorrhagic Fever]
Joubert Syndrome 7

JBTS7

Cerebello-Oculo-Renal Syndrome 3

Cors3

Joubert Syndrome, Type 7
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
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

Clinical Phase
生物活性分子 (1)
目录号 产品名 作用方式
纯度 Phase
HY-108325 Brequinar Inhibitor 99.75% Phase 2
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-RS12449 SARS2 Human Pre-designed siRNA Set A Pre-designed Sets / 否
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