SARS2 - seryl-tRNA synthetase 2, mitochondrial Gene

Homo sapiens

Also known as SYS; SARS; SERS; SARSM; SerRS; SerRSmt; mtSerRS

Gene ID: 54938 | Gene type: protein coding

About 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.

Summary

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 Products(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

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SARS2 Protein Structure

tRNA-synt_2b

0
100
200
300
400
518 a.a.

Protein Preferred Names

Protein Names

serine--tRNA ligase, mitochondrial

mitochondrial seryl-tRNA synthetase

Related Diseases

Diseases

Alias

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

Diseases	Alias
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

Related Agents

Clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Phase
HY-108325	Brequinar	Inhibitor	99.75%	Phase 2

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS12449	SARS2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

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